Rare diseases are those that affect a small number of people relative to the general population.

In fact, it is are defined as those that affect fewer than five people per 10,000 inhabitants.

In Spain, more than three million people live with a rare disease, many of them without a diagnosis or treatment.

Furthermore, this condition, although affecting very few people, has a high mortality rate.

They generally involve a very severe chronic course, with multiple motor, sensory, and cognitive impairments, often presenting a high level of clinical complexity that hinders their diagnosis and recognition.

World Rare Diseases Day

Today, on World Rare Disease Day, patients and experts are calling for equity and more research, as well as faster access to the most innovative therapies.

Living with a rare disease

Imagine experiencing the following situation:

It is not surprising that, for millions of people, living with a rare disease means facing uncertainty every day; sometimes for years; other times for decades, until the true diagnosis is known.

And, in the worst-case scenario, that diagnosis never comes.

The impact of rare diseases on public health

Diagnosis and treatment

Although each of these diseases is rare individually, together they have a significant impact on public health and require personalized care strategies.

The genetic, phenotypic, and environmental characteristics that define these conditions are not always well established across different populations, hindering the standardization of diagnoses and therapeutic approaches.

Furthermore, a lack of knowledge and awareness about these diseases contributes to delays in diagnosis, care, and prevention of complications, as well as limitations in the resources available to patients.

Diagnosis of a rare disease

To give you an idea, a patient with a rare disease waits an average of four years for a diagnosis.

This means that in approximately 20% of cases, it takes 10 years or more to receive a proper diagnosis.

National research

Spain is the only country in Europe that has not yet officially recognized the specialty of medical and clinical laboratory genetics within its healthcare system.

This means that, unlike other countries, there are no physicians specializing in genetics who can lead the diagnosis and management of these diseases within the public health system.

In fact, currently, the analysis and interpretation of genetic tests falls to professionals in other fields, which can lead to delays and errors in diagnosis.

It is no coincidence that only 20% of rare diseases are being researched.

Statistics

According to data from the National Institute of Statistics (INE), Spain’s investment in R&D barely reaches 1.5% of its GDP, well below the European average (2.47%) or countries like Sweden, which invest up to 3%.

Therefore, we believe it is necessary to “increase public funding and encourage private investment through incentives, such as declaring research into rare diseases an Event of Exceptional Public Interest (EPI), to promote new studies and the development of treatments.”

Other challenges

Alongside this research deficit, other worrying challenges exist.

Among them is early detection, since a lack of awareness about these conditions hinders diagnosis, even among healthcare professionals.

Many of these diseases are so rare that even doctors are unfamiliar with them, prolonging the uncertainty for patients and their families.

FEDER (Spanish Federation of Rare Diseases) emphasizes that expanding the number of rare diseases included in newborn screening tests would also be beneficial.

This does not diminish the importance of early detection, which allows for treatment to begin before the most serious symptoms appear.

The importance of early diagnosis

There is a certain lack of awareness surrounding rare diseases.

There has been little research and a lack of public support for issues related to rare diseases.

Most of these diseases are incurable, but as the rare disease and orphan drug information portal, Orphanet, explains:

“Appropriate treatment and medical care can improve the quality of life of those affected and extend their life expectancy.”

“Without research there is no cure”

In this regard, the progress made in some diseases has been enormous, hence the importance of continuing research to better understand rare diseases and advances in the field of health.

Faced with these challenges, it is essential to provide accurate and rapid diagnoses for these types of diseases, as well as to facilitate access to treatments to improve patients’ quality of life.

Global Commitment

All the inequalities mentioned in terms of access to healthcare for patients with rare diseases have highlighted the urgent need for an international commitment capable of improving the lives, well-being, and social impact of these conditions.

Sources: el mundo, novartis, Instituto Europeo sobre Enfermedades Raras

La entrada Rare Diseases se publicó primero en Centro Andaluz Alfa-1.

Keynote addresses at the 58th SEPAR Congress

The Decalogue of Alpha-1 Antitrypsin Deficiency (AATD) was presented at the 58th SEPAR Congress held in Bilbao in June.

AATD deficiency is a genetic predisposition that puts those with a severe deficiency at increased risk of developing various pathologies throughout their lives.

Various cases can occur, primarily chronic obstructive pulmonary disease (COPD), pulmonary emphysema, and liver involvement.

AATD-related lung disease is the most common and usually presents in adulthood, representing approximately 2–3% of all COPD patients.

Main Problem

The main problem is its underdiagnosis, despite the fact that various national and international guidelines and the World Health Organization (WHO) recommend, as a high level of evidence, the determination of plasma AAT concentration in all patients with COPD.

Delayed diagnosis leads to delayed initiation of treatment and, therefore, increased mortality.

This decalogue was created with the aim of identifying a series of relevant problems and their solutions, with the ultimate goal of reducing the underdiagnosis rate in AATD.

Drs. José María Hernández Pérez (Nuestra Señora de la Candelaria University Hospital, Santa Cruz de Tenerife) and José Luis López-Campos (Virgen del Rocío University Hospital, Seville), as members of REDAAT, were responsible for presenting it on Friday, June 13, at the Congress (Grifols Symposium).

58th SEPAR Congress Meeting

Professionals José Bernal (Grifols) and Francisco Casas, member of REDAAT and coordinator of the Alfa-1 Andalusian Center in Granada, welcomed all attendees.

Dr. Casas, as coordinator of REDAAT, was one of the driving forces behind the REDAAT-Progenika diagnostic pathway (photo 1).

Dr. Noelia Rapún (Progenika) highlighted the technological innovation that Progenika provides for the diagnosis of AATD and other diseases.

Elisabet Ferrer (Grifols) emphasized the importance of the AlphaID device.

Finally, Quin Fernández (Grifols) presented the early diagnosis of AATD as an improvement to this pathway, and Lourdes Osaba (Progenika) explained the laboratory’s technical aspects.

Although it affects 2-3% of patients with COPD, its diagnosis remains a challenge in the Pulmonology clinic.

Early detection is crucial, as early treatment can make a significant difference in a patient’s life. The event will take place on Thursday, June 12, where the awards ceremony for the best projects and the winners of the 7th “Short Story” competition will be held.

DECALOGUE OF THE SPANISH DAAT NETWORK

What is the challenge?

Beyond improving awareness of AATD, easy-to-apply guidelines have been identified, the implementation of which can have a positive impact on several aspects related to the diagnosis and management of this pathology, as well as the management of patients with AATD:

1. Cut-off point for plasma alpha-1 antitrypsin (AAT) levels in clinical analysis laboratories according to guidelines.

Adopting the threshold of 116 mg/dL as a reference value increases diagnostic sensitivity and allows for early detection of all cases presenting a mutation.

A high percentage of heterozygosity cases are found between 90 mg/dL (the common reference value) and 116 mg/dL (the value recommended by the REDAAT to completely rule out AATD).

2. Confirmation of the existence of AATD. Automation of genetic screening.

Incorporate automatic alerts and recommend SERPINA1 gene genotyping when plasma levels drop below 116 mg/dL.

Genotyping can be performed through the hospital laboratory (S and Z alleles), using the Grifols Alpha ID tool (14 major deficiency mutations), or with complete sequencing of the SERPINA1 gene.

This provides a complete diagnosis.

3. Action protocol according to the allelic variants found and the concentration of alpha-1 antitrypsin.

Personalized action protocols: from preventive measures to multidisciplinary follow-up, each patient requires personalized care based on their genotype (ZZ, SZ, SS, etc.) and plasma levels to optimize resources and improve the patient’s clinical condition.

4. Nursing role in the genetic diagnosis of AATD.

Nursing involvement in performing genetic screening or confirmation tests for AATD in pulmonary function laboratories has been shown to improve early diagnosis, contributing to a comprehensive approach to the patient during functional testing consultations.

5. Determination of AAT levels in Primary Care (PC).

All primary care physicians should have access to AAT level ordering, as they are the patient’s first and primary contact. Enabling AAT level ordering in primary care is key to the early diagnosis of patients with COPD, unexplained liver disease, asthma, or bronchiectasis.

6. Criteria and requirements for the referral of obstructive patients from Primary Care.

Including AAT determinations in the PC referral protocol, along with other complementary tests, allows the specialist to act with the necessary information from the outset.

Likewise, patients who have already been identified with levels below 116 mg/dL in PC should be referred to a specialist for evaluation.

7. Establish indicators for improvement in clinical practice.

Underdiagnosis of AATD continues to occur in more than 60% of cases. Establishing healthcare quality indicators, such as the proportion of COPD patients with AAT, is key to detecting deviations, promoting audits like EPOCONSUL, and transforming clinical practices. Objective: exceed 95% coverage.

8. Diagnostic and treatment protocols for AATD.

For diagnosis, use the REDAAT algorithm, which offers two initial approaches:

Serum quantification (along with PCR) or initial genotyping. Once the diagnosis is confirmed, early augmentation treatment with intravenous AAT slows the decline in lung function and density and improves life expectancy.

9. Multidisciplinary and personalized approach to the diagnosed patient.

The approach should be tailored to each patient’s clinical, personal, and social factors, including self-management programs and psychological, nutritional, and physical support.

It is necessary to create a structure among the specialties involved to create synergies that can reduce the impact of the disease.

10. Closer collaboration between specialties with exposure to AATD

Communication between Pulmonology and Pediatrics ensures a smooth transition for young patients into adulthood.

The creation of both pediatric and adult liver-lung teams is necessary, integrating Internal Medicine, Geriatrics, and other relevant disciplines.

A call to action

An early diagnosis, along with appropriate treatment, can make a significant difference in the life of a patient with AATD.

The current healthcare situation in different regions of Spain requires a review of the level of application and implementation of these points at the local level to continue advancing in the management of AATD.

Source: SEPAR

La entrada DECALOGUE OF THE SPANISH DAAT NETWORK se publicó primero en Centro Andaluz Alfa-1.

Relationship between Asthma and AATD

Prevalence of asthma in alpha-1 antitrypsin deficiency

The association between the two was first mentioned in 1978.

In this case, Larsson et al. reported a 4% asthma prevalence in 246 Swedish patients with severe AATD, the PiZ phenotype.

Since then, many studies have suggested an association between the two, albeit with a wide variability in asthma prevalence in patients with AATD (4–45%).

The AATD phenotype may play a role in the prevalence of asthma-AATD overlap.

Patients with the PiMZ phenotype have a three-fold higher prevalence of asthma as the sole diagnosis compared to those with the PiZZ phenotype.

Cases of asthma and AATD

A survey of 166 patients found an 11% prevalence of asthma in patients with AATD with PiZ phenotype whereas the Alpha-1-Antitrypsin Deficiency Registry Study Group, in a study aimed at defining the demographic and clinical characteristics of 1,129 patients with AATD, found a 35% prevalence of asthma diagnoses.

Diagnosis of asthma and alpha-1 antitrypsin deficiency

Asthma is a syndrome that includes diverse clinical phenotypes that share similar clinical manifestations but likely different etiologies.

It is estimated that asthma affects approximately 235 million people worldwide.

What is asthma?

It is defined as a chronic inflammatory disease of the airways, involving various cells and inflammatory mediators.

Besides, it is partly caused by genetic factors and presents with bronchial hyperresponsiveness.

Also, it is caused by variable airflow obstruction, which is totally or partially reversible, either by medication or spontaneously.

The diagnosis is established by the presence of symptoms compatible with asthma along with reversible expiratory airflow limitation.

What is AATD?

AATD is a genetic disease inherited in an autosomal codominant manner.

In its severe forms, it predisposes to the development of chronic obstructive pulmonary disease (COPD) and emphysema, as well as liver disease.

Diagnosis is established by determining serum AAT levels, followed by phenotyping and genotyping.

However, currently, given its lower cost and ease of access, genotyping is performed directly rather than phenotyping.

What should be taken into account?

It should be noted that AAT is an acute phase reactant and may increase transiently in inflammatory processes.

For this reason, concomitant measurement of C-reactive protein is recommended.

• AAD is considered severe when the serum AAT concentration is below 57 mg/dL.
• The most common genotype is Pi*MM, which is present in approximately 95% of the population and confers normal AAT levels.
• The risk of developing disease in AAD is limited almost entirely to the ZZ phenotypes (96%).
• The remaining 4% is due to rare deficient variants and the very rare null phenotypes.

Without research there is no cure

Despite this known relationship, COPD due to AATD continues to be a highly underdiagnosed disease due to its low clinical suspicion.

AATD has also been linked to bronchiectasis and asthma, and therefore, it is recommended that it be investigated in patients with partially reversible bronchial asthma.

As described below.

Candidates for determining serum alpha-1 antitrypsin concentration.

1. COPD
2. Blood relatives of patients with known AATD
3. Symptoms of dyspnea and chronic cough in many family members
4. Liver disease of unknown cause
5. Absence of the alpha-1 peak in the proteinogram
6. Adults with bronchiectasis
7. Adult asthma with poorly reversible bronchial obstruction or signs of pulmonary emphysema
8. Neutrophilic panniculitis
9. Granulomatous polyangiitis

Recommendations for its detection

Symptoms in both include cough, excessive sputum production, dyspnea, and wheezing.

These symptoms frequently overlap, making it difficult to distinguish between these two conditions, which may be overlapping in some patients.

• AATD can be misdiagnosed as asthma, as asthma symptoms are frequently the first manifestation of AATD.
• In addition, they may present with bronchial hyperreactivity and obstruction that is poorly reversible after bronchial remodeling.
• Allergy and asthma often coexist with AATD, although the relationship between allergy, asthma, and AATD is unclear.
• Due to the overlap of symptoms, diagnosing a specific clinical entity remains difficult.
• There are no universal screening recommendations.

WHO recommends that all adult and adolescent patients with asthma and all patients with COPD be screened for AATD.

The American Thoracic Society (ATS) and the European Respiratory Society (ERS) issued a joint statement in 2003 outlining standards for diagnosing patients with AATD.

As part of this declaration, recommendations were made regarding the populations for diagnostic testing in adult patients with asthma and non-reversible airflow obstruction (strong recommendation with type A evidence).

The Spanish Society of Pulmonology and Thoracic Surgery (SEPAR) recommends AAT testing in adult patients with bronchial asthma.

This is especially true for those who develop progressive bronchial obstruction or who show signs of pulmonary emphysema.

Key factors

• It is important to understand that patients with AATD may present with characteristic asthma symptoms, such as atopy and bronchial hyperreactivity.
• Furthermore, it is important to understand why the guidelines recommend investigating AATD in patients with COPD or asthma with poorly reversible airway obstruction, given that there is likely a poorly understood overlap syndrome between the two.

For this reason, it is necessary to raise awareness among medical professionals about identifying asthma in patients with known AATD and in patients with known asthma.

Active screening for AATD is also considered in patients, specifically those with severe, uncontrolled asthma, poorly reversible airflow obstruction, or concomitant emphysema.

Conclusions

Alpha-1 antitrypsin deficiency (AATD) has been associated with asthma, with prevalence ranging from 4% to 45% in patients with AATD. Numerous studies have been conducted to determine this relationship, finding varying prevalences of asthma in different AATD phenotypes.

• The prevalence of asthma in patients with AATD varies significantly, from 4% to 45%, depending on the phenotype and the study performed.
• AATD phenotypes and asthma: Patients with the PiMZ phenotype have a three-fold higher prevalence of asthma than those with the PiZZ phenotype.
• One study reported a 35% rate of asthma diagnoses in 1,129 patients with AATD.
• While another study found a 21%–38% rate in patients with severe AATD.
• Overdiagnosis of asthma: There is concern about the overdiagnosis of asthma in patients with AATD, as symptoms may overlap with those of COPD.
• Asthma and atopy: Patients with AATD have a higher prevalence of atopy and allergic manifestations, which can complicate diagnosis.
• AATD in asthmatic patients: The prevalence of AATD in asthmatic patients has been documented to be as high as 30% in some studies.
• Diagnostic recommendations: It is suggested that all adult and adolescent patients with asthma be evaluated for AATD, especially those with poorly reversible bronchial obstruction.

Source: Centro Andaluz Alfa 1

La entrada Asthma and AATD se publicó primero en Centro Andaluz Alfa-1.

International Spanish-speaking Congress

A reference in the Respiratory Scientific Community

The 58th SEPAR National Congress begins today.

The most anticipated event will be held on June 12, 13, and 14, where both professionals and patients will gather to share their experiences with care and treatment.

Furthermore, advances in medical research in the various areas of pulmonology will also be showcased.

Besides, activities, conferences, debates, and sessions have been scheduled to address current topics.

The first SEPAR National Congress was held in Bilbao in 2000 with the inauguration of the Euskalduna Palace, and the second took place in 2014, where the city’s transformation was palpable.

Finally, in 2025, we will see how the city has evolved, and all attendees will be able to enjoy this wonderful experience in the beautiful city of Bilbao.

58th National SEPAR Congress

This annual meeting is the most anticipated, not only because it is a Spanish-language international conference, a benchmark for the respiratory science community.

But it is also the perfect opportunity to learn firsthand about the major scientific and technological advances in respiratory pathology.

In other words, it is an ideal meeting place for strengthening multilateral ties.

The Forum will take place on Thursday, June 12, where awards will be presented to the best projects and the winners of the 7th Short Story Competition.

On Friday the 13th, the “Let’s Go to the Movies” activity will take place.

First day, on Thursday, the session will begin with a topic related to the importance of sleep in respiratory diseases, biological treatments, sexuality in patients, and innovations in interventional therapies.

Besides, in the afternoon, the program will offer a series of practical workshops on physiotherapy, oxygen therapy, and psychological support.

Finally, the day will conclude with the presentation of awards to the best posters presented at the event and to the winners of the 6th SEPAR Patients Short Story Competition.

Click here for the full program.

58th National SEPAR Congress

Call for Awards

To make the SEPAR Patients Conference even more interesting, together with the Conference Committee, a new call for awards will be announced for the best paper presented at the SEPAR Bilbao 2025 Conference.

On the other hand, there will be several winners, one from each SEPAR Work Area, according to the following guidelines.

Bases of the call

The Congress Committee will select the five best papers presented in each area, and will evaluate the following parameters that contribute to the quality of patient care, for example:

• Interventions that improve patient care
• Interventions that have a population impact
• Interventions that improve accessibility to quality diagnoses
• Value optimization
• Home care

After this analysis, The SEPAR Patients directors will choose one per Area from all those selected.

To conclude, the award will consist of a certificate of recognition and will take place during the SEPAR Patients session during the Bilbao 2025 Congress.

Keynote addresses at the 58th SEPAR National Congress

As every year, the program includes the Manuel Tapia Keynote Lecture, which this year is entitled: “What microorganisms don’t want us to know… and how science exposes them.”

This lecture will be held on Saturday, June 14, from 1:00 to 2:00 PM, in the Auditorium (Floor 2).

During the event, a tribute will be paid to Dr. Rosario Menéndez Villanueva.

It is due to her outstanding career in the field of respiratory infections in pulmonology, with the award of Honorary Membership of SEPAR.

We also highlight the Keynote Lecture in Thoracic Surgery, which will be held on Saturday, June 14, from 10:00 to 11:00 AM, in Room 0C (Floor 0).

The presentation will be given by the renowned Dr. Jorge Lorenzo Freixinet Gilart.

This will be entitled: “The teaching career in the context of medical specialties.”

This conference will have a cross-cutting focus, aimed at all members of society, and within its framework, Dr. Freixinet Gilart will receive the SEPAR Gold Insignia.

We hope that both conferences will be of great interest to all attendees.

Source: SEPAR

La entrada 58th National SEPAR Congress se publicó primero en Centro Andaluz Alfa-1.

On European AATD Day, we seek to raise awareness about this rare disease, recognized as a respiratory illness.

In line with one of the fundamental objectives of physicians specializing in pulmonology, as well as other complementary specialties, it seeks to disseminate scientific knowledge to support clinical practice.

What is Alpha 1 protein?

The protein alpha-1 antitrypsin (AAT) is produced in the liver to help protect the lungs.

Also, AATD is a hereditary genetic condition that, depending on genetic and external factors, predisposes adults to develop emphysema and various liver diseases in both children and adults.

Currently, it is estimated that approximately 14,500 people suffer from the most severe form of the deficiency, with a low percentage of those diagnosed.

Although there is no cure for AAT deficiency, there are several treatment options available to delay the damage the disease causes to the lungs. Treatment adherence is one of the most important interventions nursing professionals can perform and most helpful in controlling the disease.

Relationship between AAT patients and professionals

The nursing team is essential in the care and monitoring of patients with respiratory pathologies, serving as a point of reference for the patient, family members, and caregivers.

The goal is to ensure proper use and management of the various therapeutic devices available, which improve the quality of life of people with these types of pathologies.

First contact with AAT patients

Primary prevention, carried out by this team, is vitally important in preventing smoking, whose consumption, even minimal, is harmful and is linked to a wide variety of respiratory diseases.

That is why, both smoking prevention and cessation are essential measures for people with AATD, since not smoking is the only way to avoid complications such as chronic obstructive pulmonary disease (COPD).

On the other hand, secondary prevention is essential for early diagnosis, which, together with appropriate treatment, can help avoid complications.

European AAT Day, for quality care

How is it treated?

Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder characterized by low serum levels of alpha-1 antitrypsin (AAT) and may predispose to the development of

However, other diseases, the most common being liver disease in children and adults and chronic obstructive pulmonary disease (COPD) in early adulthood, although it can also affect other organs, causing disorders such as vasculitis, panniculitis, etc.

Therefore, AATD is not a disease in itself; it is a chromosomal abnormality that will accompany the person throughout their life.

Severe AATD, along with other external factors, can precipitate the development of other pathologies, hence the importance of early diagnosis.

Diagnosis

Early diagnosis of AATD allows for close monitoring of health status, lifestyle changes, and minimization of other triggering factors for associated diseases, thereby preventing or delaying their development.

However, it is currently underdiagnosed, and diagnosis is usually made based on complementary studies for already established respiratory or liver pathologies.

Due to its low prevalence, AATD is considered a rare disease.

The lack of awareness of this pathology in the healthcare setting, coupled with the variability of symptoms it can manifest with depending on the organ affected.

It means that often leads to delayed diagnosis, which has serious consequences, limits appropriate treatment, and leads to clinical worsening, irreversible sequelae, and psychosocial impact on both the patient and their family.

Once confirmed, an accurate diagnosis of the associated diseases must be made. A therapeutic approach based on a multidisciplinary healthcare team is essential for providing comprehensive and personalized care in order to provide quality healthcare.

Treatment

Actually, there is no curative treatment for this deficiency; the treatment for AATD will always be the treatment specific to the pathology it triggers.

Currently, for certain individuals with AAT-related lung disease, a specific treatment is available, consisting of intravenous AAT replacement.

The main objective of which is to maintain serum levels of this protein.

For this reason, the evolution of medicine toward patient-centered models, where patients actively participate in their journey.

It means that healthcare professionals at all levels of care assume the responsibility of empowering patients to understand and manage their health/illness.

The aim, is to make appropriate decisions in line with their personal beliefs and circumstances.

Also, offering them all the tools and options available at the time.

In this regard, the primary goal of medical professionals and the nursing team in caring for patients with AATD is to train them in disease management and complication prevention.

As well as, foster lifestyle changes and promote healthy habits, and make them a key player in both pharmacological and non-pharmacological treatment, with or without associated pathology.

The development of a personalized plan appropriate to the disease process or stage is essential.

Conclusions

We cannot ignore the fact that AATD is a rare and unknown disease.

This is often the main obstacle faced by both healthcare professionals and patients in addressing it on a daily basis.

Source: Alfa 1 España, SEPAR

La entrada European AATD Day se publicó primero en Centro Andaluz Alfa-1.

Alpha-1 antitrypsin deficiency (AATD) is estimated to affect 1 in 2,500 people.

In Spain, an estimated 14,500 people suffer from the most severe form of the deficiency, but only a small percentage are diagnosed.

Generally speaking, people with AATD may not develop associated pathologies; however, early diagnosis, in addition to avoiding high-risk factors, such as smoking, could make the difference between developing lung disease and not developing lung disease.

What is AATD?

Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder characterized by low serum levels of alpha-1 antitrypsin (AAT).

In general, this condition can lead to the development of other diseases, the most common being liver disease in children and adults and chronic obstructive pulmonary disease (COPD) in early adulthood.

Alternatively, it can also affect other organs, causing disorders such as vasculitis, panniculitis, etc.

AATD is not a disease in itself; it is a chromosomal abnormality that will accompany a person throughout their life.

In its most severe form, when combined with other external factors, it can precipitate the development of other pathologies, hence the importance of early diagnosis.

Why is your diagnosis so important?

Determination of serum AAT levels should be performed in all individuals suspected of having AATD.

Specifically, young non-smokers and asthmatics who experience dyspnea and altered lung function tests, as well as smokers with impaired lung function.

In short, AATD is one of the most underdiagnosed diseases, and can lead to other respiratory diseases such as COPD, cirrhosis, and even worsening of symptoms.

Furthermore, this condition alone is usually not sufficient to develop the disease; other genetic and environmental factors must be present, hence the importance of early diagnosis.

Relationship between AATD patients and professionals

After being diagnosed with alpha-1 antitrypsin deficiency (AATD), affected individuals and their families face a disease unknown to the general public and healthcare professionals: a genetic disorder with no cure, which could lead to other health problems, and which other family members may also suffer from.

In conclusion, all of this generates fear and emotional stress for the individual and their loved ones.

For this reason, it is important to establish a bond between patient and healthcare provider, reinforced by empathy, understanding, and emotional support.

First AATD Patient Observatory

Last month, the Alfa-1 Spain Association launched a very interesting initiative to conduct continuous and systematic monitoring of people with this rare genetic condition.

It will also serve to collect data on the disease, perceptions of it, the physical and mental well-being of those who suffer from it, and their level of satisfaction with the medical care they receive.

These are patient-targeted surveys conducted by the Observatory of Patients with Alpha-1 Antitrypsin Deficiency (AATD), in collaboration with the Share4Rare platform of the Sant Joan de Déu Foundation.

This survey is structured into three thematic sections.

• The first block includes questions related to demographic and general information about AATD.
• The second block contains questions about perceptions of well-being and the care received.
• Finally, the third block asks about diagnosed pathologies, the disease, and perceptions of the disease.

It is important to know that to access this first survey, you must be previously registered on the Share4rare platform. Registration must be completed through THIS LINK.

Registered patients can access the questionnaires in the “My Studies/AATD Patient Observatory” section of the Share4rare website once registered.

The Association will address any questions about the process by emailing info@alfa1.org.es or by WhatsApp at 624 16 97 20 (10 a.m. to 2 p.m.).

Responding to the first part of the survey takes just twenty minutes.

The information provided is completely confidential.

Information of interest

Completing this survey is extremely important for medical professionals seeking to improve patient care, improve communication with other professionals, and expedite diagnosis.

This is because there is a significant lack of information about the real impact of Alpha-1 Antitrypsin Deficiency on the daily lives of those who suffer from it, which hinders the improvement of medical care and the development of strategies tailored to their needs. To address this data gap, Alpha-1, in collaboration with Share4Rare, is opening the Observatory to patient contributions.

AATD patients

How can you help us?

Participation in the study involves completing three periodic questionnaires (the next will be sent to those registered within six months). This process will be repeated over a period of three years.

The information collected will be analyzed to better understand patients’ specific needs and raise awareness of the disease in the scientific and medical community.

Furthermore, it will contribute to greater public awareness of AATD and foster greater awareness among healthcare professionals about the challenges patients face.

A scientific committee composed of pulmonologists and researchers with expertise in AATD supports the initiative.

This group includes experts such as:

• Francisco Dasí (Incliva-Universitat de València)
• María Torres Durán (Alvaro Cunqueiro Hospital in Vigo)
• José María Hernández Pérez (Our Lady of Candelaria University Hospital, Santa Cruz de Tenerife).

58th National Congress of SEPAR

SEPAR is constantly organizing events for respiratory patients and medical professionals specializing in pulmonology.

In this case, it will be a participatory and dynamic forum, where patients, patient associations, and respiratory health professionals will be present to debate and reflect on topics of interest to all.

Bilbao will host the 58th National Congress of the Spanish Society of Pulmonology and Thoracic Surgery (SEPAR) from June 12 to 14, 2025, the leading event for respiratory professionals and patients. In this context, the 8th Forum for Patients with Respiratory Diseases “Breathing Together” will be held on Thursday, June 12, organized by the SEPAR Patients Committee.

This forum is a unique opportunity to share knowledge, discuss advances in the treatment of respiratory diseases, and foster support between patients, their families, and healthcare professionals.

The 8th SEPAR Patient Forum begins on Thursday with sessions on:

The importance of sleep in respiratory diseases:

• Biological Treatments
• Sexuality in Patients
• Innovations in Interventional Therapies
• In the afternoon, the program will offer a series of practical workshops on physiotherapy, oxygen therapy, and psychological support.
• The day will conclude with the presentation of awards to the best posters presented at the event and to the winners of the 6th SEPAR Patients Short Story Competition.

Registration and participation

We encourage Alfa-1 Spain members to register and participate in this forum. This is an exceptional opportunity to learn, share experiences, and strengthen the community of patients with respiratory diseases. For more information and to register, please visit the official event website.

Sources: Alfa 1 España, SEPAR

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February 28, 2025

The last day of February is celebrated as World Rare Disease Day.
The day on which it is celebrated was chosen because it is a month different from the others, due to its exceptional nature.

It was proclaimed by EURORDIS (European Organisation for Rare Diseases) in 2008, with the aim of improving access to treatment, as well as medical research.
Since then, this day is celebrated every year, on the last day of February, with a new and original motto.

This year the motto is “people”, which tries to put people at the centre of the message and highlight the impact that living with a rare disease has, which is unknown to most.
Therefore, it is intended to emphasise that behind every campaign, every need, every disease, every symptom… behind all of this there are people and families.

History of Rare Diseases

Its history dates back to the 1980s, when rare diseases have gradually become a priority in health programs and in public opinion.
They are defined as those with a prevalence of less than 1:2,000 individuals.

In general, they are chronic, debilitating diseases with more than 80% of genetic origin.

Rare diseases in numbers

It is estimated that around 80% of rare diseases are of genetic origin and less frequently are the result of infectious, immunological, degenerative or proliferative diseases.
Furthermore, a very small number of them, no more than 400, have treatment available.

Why are they rare diseases?

Not only is there less medical knowledge because of their low individual prevalence, but from a medical management perspective, rare diseases are characterized by the large number and diversity of conditions and symptoms.
Not only do they vary from condition to condition, but they can also vary within the same condition.

Diagnosis

Diagnoses are usually late, in general terms, rare diseases are underdiagnosed due to their low prevalence, so there is less knowledge and little specificity.
This is associated with an increase in cost, and we know that it further harms the quality of life of patients and their families, since they must consult several specialist opinions before reaching an accurate diagnosis.
Because many of them are genetic, tests are carried out on a preventive basis, since many rare diseases appear at early ages.
Genetic analysis in patients who may apparently suffer from a rare disease requires precision.

In general, the vast majority of times it is based on a molecular study, either of the specific gene associated with the disease in question, or of panels that include the different genes that may eventually be responsible for a certain phenotype and that allow the underlying molecular alteration to be accurately identified.

As mentioned, the symptoms or pathologies can be very heterogeneous.
As a result, the intervention of several medical specialists and subspecialties is required.
If it is suspected that they may be related to multiple genes and mutations responsible for the condition, as well as polymorphisms that regulate their expression, this great complexity can be explained.

Genetic counseling

Genetic counselling is the provision of information from specialists to patients and family members who have a genetic disease or are at risk of having one.
In this way, people can decide on their reproductive alternatives.

Networking

The importance of networking in research

There are numerous research centres around the world, and most of us are interconnected, as we have a common goal: finding solutions adapted to specific problems.
Otherwise, people with a rare disease would be harmed in two ways:
Presenting a severe and possibly chronic disease.
On the other hand, being underdiagnosed and having difficulty accessing treatments.

We are in contact with all the Alfa 1 Centres of Excellence located in Spain, such as:

• Sevilla Alpha 1 Centre
• Galego Alpha 1 Centre
• Catalunya Alpha 1 Centre
• Spain Alpha Centre

In addition, we are part of some scientific-medical groups that are aligned with international research centers dedicated to the study specific diseases, including Alpha 1 Antitrypsin Deficiency.
In this case, we collaborate with some such as:

• SEPAR
• Grifols
• REDAAT
• Orphanet
• EARCO

Patient Associations

Last but not least, patient associations are the way for patients and their family members or caregivers to find the answer to many of their problems.
The low prevalence forces them to join forces and empower themselves to face the different challenges associated with living with one of these conditions.
In addition, patient associations are necessary, since in order to meet objectives, a coordinated effort is imperative to achieve significant changes and be considered by researchers and the medical community.
On the other hand, it is also key to be heard by those in charge of managing health policies.
Patient organizations intervene in different aspects:
From the financing of research to the regulatory aspects of the marketing of medicines, including the production of reliable educational and informational material; as well as the design of public policies and the implementation of projects.

Conclusions

In general terms, it is understood that regardless of the number of rare diseases that exist, patients and their families are governed by a common denominator:
The difficulties they face every day to lead a life in normal conditions.
So below we show the major challenges that arise in their daily lives:

1. Lack of accurate information about the disease, as well as places to find support and assistance.
2. Less rigorous scientific knowledge, and therefore, less investment in strategies to provide greater accessibility to therapies, treatments and specialists.
3. Underdiagnosis, due to lack of knowledge of the disease and the late appearance of symptoms.
4. Lack of health care, since these require multidisciplinary assistance, that is, psychologists, therapists, nutritionists… many of whom are excluded from the public health system.
5. Treatments and medications that are difficult to access, added to the additional expense for specific needs that arise when suffering from one of these diseases.
6. Social consequences due to stigmatization, whether at work, schooling, insurance, recreational or sentimental life.

Source: Elsevier

La entrada Rare Disease Day se publicó primero en Centro Andaluz Alfa-1.

The second edition of the master’s degree in Alpha-1 Antitrypsin Deficiency will begin next February. It consists of 60 credits and will last until July 2025.

Coordination of AATD Master

This training is promoted by SEPAR (Spanish Society of Pulmonology and Thoracic Surgery) and will have the collaboration of Grifols.

In addition, this master’s degree is directed by the pulmonology specialist María Durán, from the Hospital de Vigo, Álvaro Cunqueiro, and will be taught by some of the most renowned specialists in DAAT research and treatment.

Program Bases

This program will be taught to 50 people online and aims to train professionals in the management of this hereditary condition.

These specialists include pulmonologists, internists, hepatologists, allergists, geriatricians and family doctors.

Fundamentally, the training is based on understanding this disease in order to make an early and accurate diagnosis that can stop its progression and, consequently, improve the quality of life of patients.

Objectives of the DAAT Master

The master’s degree has been organized in blocks, so that the most general concepts are explained, right through to the most specific ones.

The main objective of this specialized training is to train and update the knowledge of the specialists involved in the management of DAAT.

• In the exhaustive knowledge of the pathology.
• As well as the peculiarities according to its classification, diagnosis and best approach, based on the latest diagnostic and therapeutic innovation.
• Update knowledge on the epidemiological importance of DAAT, its determinants and its social impact.
• Know the pathogenetic bases of DAAT.
• Establish the current bases for the diagnosis of the disease in various clinical contexts.
• Know the tools for a correct diagnosis, as well as the consequences of an erroneous diagnosis.
• Learn to categorize patients correctly according to their clinical presentation.
• Know and implement non-pharmacological therapeutic measures with clinical and prognostic impact in COPD.
• Update pharmacological therapeutic options and the best way to combine them.
• Know the indication for augmentative treatment and its various guidelines and modalities.

Purpose of the AATD Master

What is AATD?

Alpha-1 antitrypsin deficiency (AATD) is the most common rare inherited disease in adults that, in its severe forms, predisposes to the development of chronic obstructive pulmonary disease, emphysema and various types of liver disease.

Why is it important for specialists to know about this condition?

Although severe AATD is responsible for 2% of all cases of pulmonary emphysema, there is currently a high level of underdiagnosis due to the low index of clinical suspicion. From a clinical point of view, AATD has two peaks of involvement.

• On the one hand, in the pediatric age group, when liver involvement is more frequent.
• On the other hand, in adulthood, severe forms can produce a particularly serious type of emphysema, of the panlobular type, with significant repercussions on respiratory physiology with known clinical manifestations.

Early diagnosis

The role of the clinician who cares for patients with related symptoms is key to being able to identify cases early, allowing therapeutic interventions that can change the progression of the disease and avoid its consequences.

With these premises, the need arises to develop this training program for the Master of Continuing Education in DAAT, which aims to cover the need to update the knowledge of professionals involved in the health care of patients with this disease.

Coordinators

Finally, we would like to mention the experts who will collaborate in this training.

Leading pulmonology specialists in Spain:

• I. Blanco Blanco (Langreo)
• J. M. Hernández Pérez (Tenerife)
• L. Diab Cáceres (Madrid)
• M. Romero Gómez (Sevilla)
• M. Calle Rubio (Madrid)
• F. Dasí Fernández (Valencia)
• F. Casas Maldonado (Granada)
• J. Signes-Costa Miñana (Valencia)
• J. L. López-Campos Bodineau (Sevilla)
• D. Gómez de Antonio (Madrid)
• Z. Mariño Méndez (Barcelona)
• M. Torres Durán (Vigo)
• F. J. Michel de la Rosa (Donosti)
• M. C. Montero Martínez (Coruña)

Source: SEPAR

La entrada Master AATD se publicó primero en Centro Andaluz Alfa-1.

Health and other forms of smoking

The fight against smoking continues. The industry is reinventing itself and creating new products that, despite their harmless appearance, are as harmful or even more so than conventional cigarettes.

Other forms of smoking

Francisco Casas, a pulmonologist at the San Cecilio Clinic, warns of this new epidemic of young faces and is very concerned about the general lack of knowledge surrounding vapers, hookahs and electronic cigarettes.

The number of young people who smoke has dropped by a third since the beginning of this century, and yet we cannot be happy. Why?

Because, although the prevalence of conventional tobacco consumption has been reduced, the consumption of other emerging forms of smoking has been increasing and now exceeds that of conventional tobacco among adolescents.

19.2% of young people between 14 and 18 years old smoke or consume some tobacco derivative. But vapers are the preferred choice for one in five.

Followed by hookahs, which are used by 14.3%, while 13.1% opt for conventional cigarettes.

It was thought that electronic cigarettes or vapers could be a less harmful substitute than tobacco, but this is not the case.

E-cigarettes are not harmless for active or passive smokers.

E-cigarette and vape smoke contain the same harmful constituents as conventional cigarettes: volatile organic compounds, hydrocarbons, heavy metals and may contain nicotine.

And they don’t help you quit smoking either?

They do not help you quit smoking or consume less cigarettes. In addition, these devices are the gateway to nicotine addiction.

What happens to our lungs when we vape?

In adolescents, lung development is slowed down, which usually forms in girls until the age of 18 and in boys until the age of 22.

In addition, it causes irritation and inflammation of the respiratory mucosa: chronic bronchitis, asthma, bronchiolitis and interstitial lung diseases.

Moreover, it destroys the alveoli and produces cellular mutations with the development of lung cancer.

Is it necessary to have a very strong habit to cause damage to the body?

As with conventional tobacco consumption, the number of cigarettes smoked daily and the number of years of consumption are factors involved in greater damage to the body.

However, there are factors linked to each individual that can make them more susceptible, such as genetic factors for lung cancer or asthma or chronic obstructive pulmonary disease.

They also have a very strong social component. A clear example is hookahs, which have become widespread in nightlife… Are they safe?

Not at all, they are even more harmful than conventional tobacco.

Is it true that a hookah session is equivalent to inhaling 200 times the smoke of a cigarette?

A single puff is almost equal to the volume of smoke inhaled by an entire cigarette.

The volume of smoke inhaled during a typical hookah session is approximately 90 liters, which is equivalent to 200 puffs, compared to the 0.5 liters inhaled when smoking a cigarette.

And yet there is more social permissiveness. Why?

Much of the blame for this permissiveness lies with society’s ignorance, and in particular, that of parents and educators. Sometimes we are carried away by the tobacco industry’s messages about its safety and supposedly lower addictive capacity.

After 30 years of prevention campaigns or restrictive laws, tobacco consumption has been reduced.

How many years do you think it will take now to minimize the impact of these new harmful habits?

I couldn’t tell you how many, certainly many, more than ten years and everything will depend on the messages that are transmitted to the general population and to young people in particular through the media and social networks.

It will also depend on the measures taken by public administrations to equate the consumption of these products with conventional tobacco, establishing the same prohibitions on their consumption by minors and for smoke-free spaces.

The active fight against the tobacco industry and its false messages is another of the battles.

Finally, tell a young person reading this what benefits they might notice when they quit smoking.

The first and most immediate thing you will notice is the decrease or disappearance of your cough; you will have a greater ability to practice sports and your oral health will improve.

In addition, tobacco accelerates cellular aging, specifically of the skin, and promotes hair loss, which will improve. Getting rid of nicotine addiction is another great advantage of quitting.

Source: Centro Andaluz Alfa 1, Ideal Granada

La entrada Other forms of smoking se publicó primero en Centro Andaluz Alfa-1.

On the occasion of the celebration of liver cancer day and to give it greater visibility, as well as raise awareness among the population about the knowledge of this disease in relation to others, we bring you this news.

Relationship between the liver and AATD

AATD is the most common hereditary disease in Spain and in its most severe forms, it can cause damage to the lungs and liver.

Not all people with AAT deficiency suffer from liver problems, since in many cases it is mild and the patient does not even know they have it.

Alpha-1 Antitrypsin is a protein produced in the liver and its main function is to protect the lung from degradation and inflammation caused by infections or external agents.

When DAAT exists, this protein remains stagnant in the liver, which produces two consequences: it damages this organ and, by not passing into the bloodstream, it does not reach the lungs and leaves them unprotected.

The most common disease is cirrhosis, where severe scarring occurs in the liver; this can appear even in children and newborns due to ATT deficiency.

Diseases related to DAAT and life cycle

The development of hepatocellular carcinoma has been described in 2-3% of elderly ZZ individuals, or Wegener’s disease in 2-3%, and neutrophilic panniculitis.

This corresponds to 1 in 100 Pi*ZZ in the UK registry and 1 in 1,000 in the American registry.

Probability of incidence

Severe alpha 1-antitrypsin (AAT) deficiency is a complex monogenic disorder, with great variability in its clinical presentation, percentage of affected individuals and age of onset of diseases such as COPD.

Consequences of alpha 1 antitrypsin deficiency in the liver

Hepatic disease in ZZ homozygous individuals is of variable severity and is due to the formation of protein polymers, which cannot be excreted by the hepatocyte and accumulate inside it (90% in the Z mutation).

Up to 70% of ZZ newborns may present abnormal liver function tests, but only 10% develop prolonged neonatal colostasis and 2.5% of them develop childhood liver cirrhosis.

Consequences of alpha 1 antitrypsin deficiency in the liver

In adults, the risk of liver cirrhosis depends on sex and age, being more pronounced in ZZ men over 50 years of age (20-40%) who, in addition, have a higher risk of hepatocellular carcinoma, both in cirrhotic and non-cirrhotic livers. cirrhotics, and is independent of their history of hepatitis B (HBV) or C (HCV) virus infection.

Liver cirrhosis

Liver diseases linked to Alpha-11 Antitrypsin Deficiency are:

1. Chronic hepatitis
2. Cirrhosis
3. Liver carcinoma.

It is not yet known why some individuals with Alpha-1 Antitrypsin Deficiency develop liver damage and others do not.

Liver lesions are related to the retention and polymerization of AAT in the liver in those affected with the PiZ allele; Furthermore, it usually occurs in childhood.

It is diagnosed when there is liver dysfunction that cannot be attributed to any other cause.

INCIDENCE IN CHILDREN AND ADOLESCENTS

Frequency

The good news is that in most cases these alterations are stable during childhood and adolescence, without becoming serious. 

Only in certain cases can progressive liver damage occur that requires transplantation in children.

It is estimated that between 10-15% of children with the two defective ZZ genes develop clinical liver disease before the age of 20 years. 

Liver disease can also occur in adults and become severe in middle age.

Symptoms of Alpha 1 Antitrypsin Deficiency

Adult subjects with severe AATD usually present respiratory symptoms, but with early onset, starting at age 35 in smokers and after age 45 in non-smokers.

1. The most common symptom is dyspnea on exertion, which appears in 70-90% of patients.
2. Other common symptoms are cough (42%) and chronic expectoration (46%), related to the presence of bronchiectasis (23% of ZZ individuals).
3. Wheezing can be persistent or appear during exacerbations in up to 70-80% of cases.
4. Regarding the physical examination, there is no data that is specific to DAAT.

Recomendaciones

To finish, we only advise you on some simple guidelines such as quitting smoking, exercising daily, following a balanced diet, avoiding processed foods; and finally carry out periodic monitoring by medical experts.

Sources: Centro Andaluz Alfa 1, Alfa 1 España

La entrada Liver and AATD se publicó primero en Centro Andaluz Alfa-1.