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.

We breathe around 20,000 times a day.

Breathing is an automatic and involuntary physiological process that begins at birth and ends at death.

It is key to our survival, which is why we never stop doing it.

During this process, the body’s cells are nourished with oxygen, and we expel it in the form of carbon dioxide.

Conscious breathing

Breathing is an automatic bodily function, but when it becomes a conscious act, it can transform into a powerful tool for physical and mental balance.

Despite being an automatic process, we can modify it; changing the way we breathe can bring benefits to our physical and mental health.

The importance of knowing how to breathe properly

Pursue your well-being

A large portion of the population breathes shallowly and rapidly, making their chest rise and fall. However, it’s important to know that this limits the body’s oxygen intake and activates the sympathetic nervous system, in addition to generating muscle tension.

Most people breathe shallowly, rapidly, and primarily through their chest.

This type of breathing limits the body’s oxygen intake, activates the sympathetic nervous system (associated with stress), and generates muscle tension.

Therefore, some people often experience stress and anxiety, frequently caused by this incorrect breathing pattern.

The importance of knowing how to breathe

Learn to breathe

Learning to breathe efficiently is a simple, accessible tool with proven effects on overall well-being.

In other words, deep, conscious breathing activates the parasympathetic nervous system, which induces relaxation, regulates heart rate, and promotes mental clarity.

Main benefits of conscious breathing

1. Stress and anxiety reduction: Slowing the breathing rate decreases the activity of the sympathetic nervous system.
2. Improved concentration and attention: Focusing the mind on breathing helps reduce mental distraction.
3. Greater emotional control: It facilitates the management of impulsive reactions and promotes a state of inner calm.
4. Reduced muscle tension: Deep breathing naturally relaxes the body.
5. Improved oxygenation: By fully utilizing the lungs, gas exchange and cellular energy are enhanced.
6. Better sleep: Incorporating breathing techniques before bed can help you fall asleep and improve sleep quality.

Conscious breathing in holistic health

Increasingly, healthcare professionals are integrating these practices into complementary treatments to address disorders such as:

• Chronic stress and generalized anxiety.
• High blood pressure.
• Tension headaches.
• Stress-related digestive disorders.
• Persistent fatigue or insomnia.

This demonstrates that breathing is much more than a biological function: it is a therapeutic resource of great value.

3 exercises to breathe well

Deep breathing

This is one of the simplest breathing techniques, designed to induce a calm and relaxed state of mind.

It consists of inhaling through the nose for about 4 seconds.

Hold your breath while mentally counting to 4, very calmly.

Then, exhale calmly for another 4 seconds.

Repeat 5 or 6 times.

Complete breathing

This exercise uses deep abdominal breathing.

First, exhale all the air from your lungs, emptying them completely. Then, inhale gently and deeply, filling your abdomen as much as possible, followed by your lungs and chest.

Hold your breath for about four seconds and exhale slowly, noticing how your chest empties first, then your abdomen.

Breathing exercises for better sleep

This conscious breathing exercise will help us manage stress and, consequently, sleep better.

Place the tip of your tongue on the roof of your mouth, just behind your upper front teeth. Inhale through your nose for about 4 seconds, then hold your breath for 6 to 8 seconds.

After these first two parts, exhale through your mouth, pursing your lips and making a hissing sound, blowing out, noticing how you release all your internal tension, for about 8 seconds. Repeat the entire exercise about four more times.

Sources: psicologiaymente, sanitas

La entrada Breathe well se publicó primero en Centro Andaluz Alfa-1.

The importance of priority healthcare for chronic respiratory patients

The need to promote a national strategy

Last Wednesday, a document prepared by Chiesi Spain entitled “Consensus for Equity in Respiratory Health” was published.

This report includes recommendations for its implementation in Spain: the objective is to show the inequalities in the approach to highly prevalent pathologies.

Similarly, it highlights the need to promote new measures to achieve a consensus in the care of respiratory patients. This would have an effect on reducing social determinants of health.

Needs identified in chronic respiratory patients

The public healthcare system is free and decentralized; each Autonomous Community manages its resources independently.

Currently, scientific societies, professional associations, and patient groups have expressed the need to address the social determinants of health that affect millions of patients with respiratory illnesses.

The primary goal in managing respiratory illnesses is early diagnosis; however, primary care is overwhelmed.

For this reason, strengthening primary care and improving its coordination with specialized medical care is crucial.

If specialists recorded the social determinants of health in patients’ medical records, it would be easier to tailor care to their individual circumstances.

Optimization of the patient care system

Patients need changes:

• More than seven million people in Spain suffer from asthma, COPD, and other chronic respiratory illnesses that significantly impact their daily lives.
• Respiratory diseases are chronic, progressive, and debilitating conditions that have a major impact on patients and their families.
• These illnesses can affect everything from performing basic daily activities, such as going outside or showering, to mental health issues like anxiety and depression.
• These patients are also more vulnerable to viruses and infections.

On the other hand, access to specialist care is geographically limited, especially for people living far from major cities.

For this reason, it is necessary to educate society about preventative healthcare.

“If we want to reduce the impact of these diseases, we must act earlier, starting in childhood.”

Some diseases cannot be prevented, but early diagnosis and timely treatment can slow their development or progression, improving the patient’s quality of life and survival.

This is alsoMain objectivevisits to primary care centers by people with respiratory illnesses is 1.4 times higher.

Main objective

Patient Care

Comprehensive patient healthcare is the first recommendation of the consensus.

An approach that emphasizes “everyone working together, with coordination between different levels of care,” and strengthening the role of respiratory nursing.

Secondly, facilitating early diagnosis of these diseases, “starting with suspicion in primary care and, if a definitive diagnosis is not possible, referring to a specialist.”

Synergy among medical specialists, nurses, and pharmacists is key to working in the right direction, as is educating the public.

Centralizing data for access to information in electronic health records is the path to achieving better results with less effort.

Furthermore, it is important to launch health promotion and anti-smoking campaigns; smoking, along with increasingly changeable weather patterns with alternating periods of cold and heat, exacerbates respiratory illnesses.

Access to Treatments

The document also highlights the importance of promoting equitable access to treatment, as well as the incorporation of cost-effective therapeutic innovations.

It further emphasizes the importance of promoting therapeutic education programs and recommendations for healthy lifestyle habits.

On the other hand, it recommends launching awareness campaigns in all autonomous communities to strengthen respiratory health prevention and promotion.

Experts agree that early diagnosis of respiratory diseases facilitates timely treatment and better health outcomes, making it possible to alter the natural course of the disease.

Conclusions

For all these reasons, the document concludes by adding recommendations regarding the establishment of quality health outcome indicators.

The objective is to allow the autonomous communities to measure and evaluate, using the same common and agreed-upon criteria, the efficiency of chronic respiratory patient management.

Finally, the analysis recommends assigning the State Public Health Agency the task of defining a unified methodology for continuously analyzing and monitoring the impact of all the social determinants of health on respiratory diseases.

Furthermore, it seeks to identify data on the social determinants of health, all from a multidisciplinary and inter-regional perspective.

Sources: La razón, Inmedico

La entrada Chronic Respiratory Patients se publicó primero en Centro Andaluz Alfa-1.

Children’s cardiovascular health

In Spain, childhood obesity remains a major challenge in 2025, affecting more than a third of schoolchildren (36.1% overweight in 2023), with figures that vary according to age and socioeconomic level.

Sedentary lifestyle

Furthermore, sedentary behavior is a key factor, evidenced by a significant increase in screen time and a reduction in physical activity, according to studies such as PASOS 2022-2025 by the Gasol Foundation.

This data is particularly important given that the World Health Organization considers that 80% of cases could be prevented with healthy habits instilled from an early age.

Nutrition and health prevention

Stages from birth

Infant

From birth, these two factors are key to prevention.

For the first six months, exclusive breastfeeding is essential; and complementary feeding should continue until two years of age, gradually introducing a variety of natural foods starting at six months.

Furthermore, free movement, crawling, and play are fundamental to stimulating their development.

It is well known that obesity in children under two years of age carries a 30% greater chance of persisting into adolescence, and thus into adulthood.

preschool age

Between the ages of three and five, a varied diet of fruits, vegetables, whole grains, and lean protein, along with limited sugar intake, is essential for protecting cardiovascular health.

Furthermore, it is important to combine a healthy diet with 180 minutes of physical activity of any intensity.

Don’t forget that young children need to sleep more than an adult, between 10 and 13 hours of sleep per day.

Preadolescence

During the school years, from ages six to twelve, a balanced breakfast is recommended, while limiting snacks, pastries, and sugary drinks.

It is also very important to encourage physical activity, whether it be walking, cycling, or any other extracurricular activity.

It is worth considering replacing these types of activities with screen time, limiting their use to two hours per day.

Adolescence

Young people between the ages of thirteen and seventeen are at a stage where they consolidate their eating and physical activity habits; they already have autonomy and the capacity to make choices.

If they have acquired healthy habits during childhood, it is considered that they have made optimal progress to continue into adulthood.

A responsible relationship with food is a very important step in people’s lives.

Nutrition and health prevention

Respiratory problems

We don’t usually pay attention to the problems that can result from excessive consumption of ultra-processed foods from childhood.

In this case, a study carried out by the University Clinic of Navarra has shown that if 30% of the diet consists of ultra-processed foods, in minors, the risk of suffering from chronic respiratory diseases increases.

The relationship between diet and respiratory health

Nutrition plays a crucial role in the management and prevention of chronic respiratory diseases such as asthma, COPD (Chronic Obstructive Pulmonary Disease), and pulmonary fibrosis.

A balanced, nutrient-rich diet can significantly improve lung function, reduce inflammation, and strengthen the immune system.

For this reason, we consider good nutrition as a preventative measure.

What foods are most recommended for patients with chronic respiratory diseases?

It’s very simple, it’s about incorporating basic and accessible foods into your daily diet, which, if consumed daily, will have a very positive impact on your health.

• Fresh fruits and vegetables: Rich in antioxidants and vitamins, they help fight inflammation and oxidative stress.
• Fatty fish: Sources of omega-3 fatty acids, such as salmon and mackerel, which help reduce inflammation.
• Nuts and seeds: Good sources of magnesium and healthy fats that support lung function.

What foods should you avoid to improve your respiratory health?

There are some foods that can worsen the symptoms of chronic respiratory illnesses.

These foods are easy to guess:

• Processed foods and foods high in sodium: These can cause fluid retention and raise blood pressure, which can make breathing difficult.
• Dairy products: In some people, dairy can increase mucus production, which can worsen breathing problems.
• Fried and fatty foods: These can cause inflammation and impair lung function.

How does good hydration affect respiratory health?

Proper hydration is essential for respiratory health, for the following reasons:

• It keeps the airways hydrated: This facilitates mucus removal and easier breathing.
• It helps prevent infections: Drinking enough water can help keep your immune system strong and functioning properly.

In conclusion, we invite you to reflect on how food influences your life and how important it is to you personally.

Finally, we ask if you consider your eating habits to be positive for your health and, if not, what steps you would take to make a change and set new goals for next year.

Sources: Efesalud, eleco, neumotec

La entrada Nutrition and health prevention se publicó primero en Centro Andaluz Alfa-1.

During Plasma Awareness Week, we introduce you to an exciting world where plasma plays a fundamental role in the field of health and medical research.

What is plasma?

It is a transparent and slightly yellowish liquid that represents 55% of the total blood volume.

Here, the blood cells are suspended:

• Platelets
• Red blood cells
• White blood cells

And it is made up of three basic principles:

• 90% water
• Mineral salts
• Proteins

Plasma proteins derived from plasma

Plasma contains a large number of proteins that ensure the proper functioning of our body, among which the following stand out:

• Immunoglobulins: defenses that protect us from infections.
• Clotting factors: along with platelets, they are responsible for stopping bleeding when we cut ourselves.
• Growth factors: crucial for cell repair and regeneration.
• Albumin: a protein that transports hormones and medications to the tissues.
• Alpha-1 antitrypsin: used in the treatment of alpha-1 antitrypsin deficiency, which can lead to lung and liver diseases.

The importance of plasma for Alpha 1 Antitrypsin deficiency

Plasma therapy for alpha-1 antitrypsin (AAT) deficiency involves the intravenous infusion of purified AAT from donor human plasma, which is the only known targeted treatment to prevent or slow the progression of emphysema.

This protein replacement helps protect the lungs from tissue destruction caused by other proteases, and its level in the blood can be monitored to ensure its effectiveness.

What is Alpha 1 Antitrypsin Deficiency?

DAAT is a hereditary genetic disease.

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

Diagnosis is established by determining the serum concentration of AAT, followed by phenotyping and genotyping, although the latter is more commonly used due to its lower cost and easier access.

What should be taken into account?

This disease is the most common cause of severe pulmonary emphysema and chronic obstructive pulmonary disease (COPD) in adults, as well as the most common cause of liver disease in children.

It is more common than other rare lung diseases such as cystic fibrosis and pulmonary arterial hypertension.

Symptoms of Alpha 1 Antitrypsin Deficiency

They vary depending on the severity and type of genetic mutation of the disorder, and external factors also play a role.

Alpha 1 dementia affects approximately 3.4 million people worldwide.

It is estimated that up to 90% of people with severe alpha 1 dementia remain undiagnosed, despite the existence of simple screening tests that can quickly detect the disease.

Plasma donation for health

Plasma donation, or plasmapheresis, involves drawing blood, separating the blood cells using a cell separator, retaining the plasma, and returning the remaining blood to the donor through the same line.

The donation process takes about 45 minutes, and because plasma is primarily water, the donor recovers very quickly and can donate more frequently. Plasma can be donated every 15 days.

Of the 5 liters of blood that an average 70-kilogram person has, about 3 liters are plasma.

Who can donate plasma?

To donate plasma, you must meet the same requirements as for blood donation.

You must be between 18 and 70 years old, weigh more than 50 kilos (110 pounds), be in good health, and, in the case of women, not be pregnant.

Also, if you have donated blood, you must wait one month before your next donation.

All blood types are valid, although blood type AB is the universal plasma donor, compatible with all recipients.

The importance of plasma in health and medicine

The importance of plasma in health and medicine

In the medical field, it is essential for transfusions in major surgeries, trauma, and conditions involving blood loss.

In addition, it is used in the treatment of autoimmune diseases, providing antibodies and immune proteins.

To address coagulation disorders, such as hemophilia, plasma provides necessary clotting factors, and in the context of infections, such as COVID-19, convalescent plasma therapy is used, taking advantage of the antibodies present in the plasma of recovered individuals.

What is blood plasma used for?

Functions of plasma in the blood

Medical properties of blood plasma

• Clotting capacity: Crucial in the prevention and treatment of bleeding.
• Nutrient and waste transport: Acts as a transport medium for essential nutrients, gases, and waste products, facilitating exchange between tissues and organs.
• Immunoglobulins and antibodies: Their role is vital in the immune response, useful in the treatment of autoimmune diseases and convalescent plasma therapy.
• Regulation of blood volume and pressure: Albumin in plasma helps maintain osmotic pressure and blood volume, crucial for homeostasis and cardiovascular function.
• Compatibility for transfusions: Allows for compatible blood transfusions, as cellular components (red blood cells, white blood cells, and platelets) can be separated from the plasma, facilitating the administration of specific components according to the patient’s needs.
• Supports immune function: Plasma is rich in antibodies (immunoglobulins), crucial for the immune system to fight infections and neutralize pathogens. That is why plasma-derived proteins are valuable in patients with immune deficiencies.

Spread the message

We are calling on blood donors, regarding the need to donate plasma, as both are urgently needed in our country to continue saving lives.

Source: Centro Andaluz Alfa 1, Grifols, Centromedicoabc

La entrada Plasma for health se publicó primero en Centro Andaluz Alfa-1.

Human beings spend a third of their lives sleeping

It has been proven that quality sleep is key to good health, especially respiratory health.

For this reason, it has been a subject of study for decades, and important scientific advances have been made in this area of ​​study.

Relationship between Sleep and Respiratory Health

While we sleep, our body recovers, our respiratory muscles relax, and our breathing becomes slower and more regular.

This allows for greater exchange of oxygen and carbon dioxide in the lungs, facilitating efficient respiratory function.

This relationship is a compelling reason to explain the direct relationship between sleep quality and respiratory health and, consequently, the risk of developing lung diseases.

Importance of Sleep in Preventing Lung Disease

Here are some reasons why sleep directly affects respiratory health:

Regulation of the immune system

During sleep, our immune system strengthens and regenerates. This is especially important for preventing respiratory infections, such as colds and flu.

Reduction of inflammation

Insufficient sleep can contribute to chronic inflammation in the body, including the lungs.

How does sleep quality affect daily life?

How we feel while we are awake depends, in part, on what happens while we sleep.

On the other hand, in children and adolescents, sleep promotes growth and development.

In fact, not getting enough sleep can increase the risk of chronic, long-term health problems.

It can also affect the ability to reason, react, work, learn, and interact with others.

Hormones and sleep

El cuerpo produce diferentes hormonas en diferentes momentos del día.

Por la mañana, el cuerpo libera hormonas que promueven el estado de vigilia, como el cortisol, lo cual nos ayuda a permanecer despiertos.

El metabolismo y el sueño

How the body uses fat varies according to various circadian clocks, including those of the liver, fat, and muscle.

For example, circadian clocks ensure that the liver is primed to help digest fats at the right times.

The body may use fat differently if we eat at unusual times.

Relationship between sleep quality and obesity

We summarize the effects of poor sleep quality in five key factors, according to various clinical studies:

1. Higher levels of hormones that control hunger, including leptin and ghrelin, within the body
2. Decreased ability to respond to insulin
3. Increased food consumption, especially fatty, sweet, and salty foods
4. Decreased physical activity
5. Metabolic syndrome: A group of risk factors that increase the likelihood of developing heart disease, type 2 diabetes, and other conditions.

Respiratory and immune systems

During sleep, we breathe less frequently and less deeply, and inhale less oxygen.

These changes can cause problems for people with health conditions such as asthma or chronic obstructive pulmonary disease (COPD).

• Asthma symptoms often worsen during sleep in the early morning hours.
• Likewise, breathing problems in people with conditions like COPD may worsen during sleep.
• Sleep also affects different parts of the immune system, which are more active at different times of the day.
• For example, while we sleep, a specific type of immune cells work harder. This is why people who don’t get enough sleep may be more prone to colds and other infections.

Reasoning and memory problems

Sleep contributes to learning and the formation of long-term memories.

Not getting enough sleep or enough quality sleep can lead to difficulty concentrating on tasks and impaired reasoning.

Tips to improve sleep quality

Improving sleep quality can make a difference in respiratory health. Here are some tips to help you achieve restful sleep and prevent lung diseases:

1. Keep a regular sleep schedule

• Try to go to bed and wake up at the same time every day, even on weekends.
• This helps regulate your circadian rhythm and improves sleep quality.

2. Create a sleep-friendly environment

• Make sure your room is dark, quiet, and at a comfortable temperature.
• Also, use comfortable mattresses and pillows.

3. Avoid stimulants before bedtime

• Limit your use of technology before bed.
• Also, avoid caffeine, alcohol, and tobacco before bed, as they can interfere with sleep quality and affect respiratory health.

4. Practice a relaxation routine before bed

• Do relaxing activities before bed, such as reading a book, taking a warm bath, or practicing deep breathing techniques.

5. Healthy habits

• Eat a balanced diet, exercise regularly, and avoid excessive stress.
• A healthy lifestyle contributes to better sleep and optimal respiratory health.

Source: Europeanlung, nhlbi, neumotec

La entrada Sleep and respiratory health se publicó primero en Centro Andaluz Alfa-1.

Wave of fires in Spain

In recent weeks, many areas of Spain have seen their skies covered in a thick, toxic layer of smoke, the result of fires that have spread, engulfing thousands of hectares of green spaces and surrounding urban areas.

Forest fires

A double danger for your health and the environment

The recipe for disaster: a mixture of smoke and haze

Spain is experiencing the worst wave of wildfires in its history in the midst of a heat wave.

This situation not only makes extinguishing the fire difficult, but also releases harmful particles that remain suspended and can be respirated hundreds of kilometers from the fire.

Furthermore, it has been shown that these particles can persist for quite some time after the fire is extinguished.

The most dangerous are PM2.5, with a diameter less than 2.5 microns, capable of penetrating deep into the lungs and reaching the bloodstream.

These particles irritate the respiratory system, cause inflammation, and aggravate pre-existing conditions.

Although the human body has defense mechanisms, its filtering capacity is limited in the face of prolonged or intense exposure.

However, health effects can appear later, weakening the respiratory system’s defenses, facilitating the entry of viruses and bacteria.

On the other hand, in the medium term, air quality remains poor even when smoke is no longer visible, making it necessary to maintain preventive measures beyond the immediate emergency.

Fires can seriously affect respiratory health.

The first harmful effect falls on the lungs

The air becomes unbreathable for many people, especially those who already suffer from respiratory conditions.

Smoke, composed of gases and particles, can irritate the eyes, throat, and lungs, causing coughing and wheezing.

In addition, patients with asthma or diseases like COPD experience exacerbations that may require urgent medical attention or even hospitalization.

Side effects on health

Combustion of different materials

In addition to plant material, synthetic materials present in homes, infrastructure, or street furniture can burn in a fire.

This adds toxic compounds such as dioxins, furans, and heavy metals to the air, which are highly harmful to health.

The mixture of these pollutants turns the smoke into an unstable and harmful chemical cloud.

Breathing that air not only produces immediate symptoms like coughing or shortness of breath, but can have long-term consequences, even years later.

Psychological consequences

Fires can affect not only physical health but also mental health, with consequences such as post-traumatic stress.

Medical recommendations

As long as these episodes continue, pulmonology specialists recommend:

1. Avoid outdoor sports early in the morning and late in the evening, as the concentration of particles is higher.
2. In addition, it is advisable to ventilate your home early in the morning or at night, as well as to use air purifiers.
3. Furthermore, the use of FFP2 masks is recommended to avoid inhaling polluting particles, especially in exposed areas.
4. Finally, if you experience difficulty breathing, a persistent cough, or unusual throat irritation, see your doctor as soon as possible.

Sources: La razón, Demócrata, RTVe

La entrada The effects of fires on health 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.