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.

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.

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.

For plasma donation awareness week, we have compiled some information that we think you might find interesting.

History

In 1994, a team of surgeons applied autologous plasma to the spongy tissue of a mandibular bone.
Autologous platelet-rich plasma (PRP) is a possible treatment for wound healing because it has components such as fibrin and high concentrations of growth factors (PRGF) that help in healing and bone regeneration.

Two years later, scientists Mark and Cols concluded that PRP increased the concentration of platelets (cells responsible for healing wounds) in the tissues, and regenerated the cells due to its enormous reserves of bioactive proteins.

As a result, the bone was able to consolidate much more quickly than with other treatments.

What is?

It is a liquid component of the blood that contains valuable information about the entire organism.

We could say that it is a biological treasure that transports essential elements, including blood cells, nutrients and, especially, proteins, which it distributes to all organs.

This unique vital liquid can potentially be the basis for the treatment of many diseases and, therefore, be key to improving people’s quality of life.

There are five types of cells in the blood:

1. Red blood cells
2. White blood cells
3. Platelets
4. Organic compounds
5. Electrolytes

What is plasma made of?

Plasma is a yellowish, almost transparent component of blood.

• Represents 55% of the total volume of blood.
• Water makes up 90% of the volume of plasma.
• Proteins represent 9% of the total plasma and are responsible for ensuring the proper functioning of our body.
• 1% are nutrients and gases.

Plasma proteins

The proteins found in plasma perform an important function in our system, and we mainly find:

1. Albumin: transports hormones and drugs and takes them to the tissues.
2. Coagulation factors: responsible, together with platelets, for stopping bleeding when we get a wound.
3. Immunoglobulins: serve to defend us from infections.

What is plasma used for?

In most cases, it is used to treat people who have suffered severe burns, or those who need a transfusion due to a serious accident or illness.

In general, it is a great discovery that saves the lives of thousands of people every day, and it is especially used for people with alpha-1 antitrypsin deficiency (AATD), immunoglobulin deficiency, autoimmune diseases and other rare diseases.

To treat these people, plasma is basically transfused from healthy people to patients to improve the immune response or the blood clotting capacity. To treat a patient with AATD for one year, between 130 and 1,200 donations are required.

DONATE PLASMA, SAVE LIVES

How much plasma does a person have?

Normally, a person weighing 70 kilos has about 3 liters of plasma.

Donation

Donation consists of extracting blood, separating the blood cells using a cell separator, retaining the plasma and returning the rest to the donor by the same means.

It is frozen at -40º until it is transfused to patients or manufactured as drugs.

How long does it take? About 45 minutes.

How often can you donate?

As it is mostly water, the donor’s recovery is very fast and donations can be more frequent.

You can donate every 15 days.

Although if you have given blood before, you must always wait a month for your next donation.

To donate plasma, the same requirements must be met as to be a blood donor:

1. Be between 18 and 70 years old
2. Weigh more than 50 kilos
3. Be in good health.
4. If you are a woman, you must not be pregnant.

What type of blood is most suitable?

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

We need everyone’s collaboration, it doesn’t cost anything, but you will get a huge reward for helping so many people improve their quality of life.

Source: Centro Andaluz Alfa 1

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

Advances in the treatment of alpha-1 antitrypsin deficiency and future therapies

In June 2024, the meeting of the Spanish Network for Research on Alpha-1 Antitrypsin Deficiency (REDAAT) took place, during the 57th SEPAR Congress that took place in Valencia from June 6 to 8.

THE CURE IS THE FUTURE

Review of new strategies for future AATD therapies

On this occasion, Francisco Casas presented during the REDAAT meeting the “Advances in the treatment of DAAT and future therapies”.

During his presentation he reviewed the new strategies for the treatment of AATD, such as:

1. Neutrophil elastase inhibitors
2. Increasing exogenous AAT (existing IV replacement therapy with human AAT, advances in replacement therapy with human AAT and recombinant AAT (rAAT) by IV or inhaled route)
3. Increasing endogenous AAT (liver transplant and increasing AAT release by the hepatocyte)
4. Gene therapy
5. Treatment of liver disease.
6. Other strategies such as reducing lung inflammation with antioxidants or hyaluronic acid, and promoting alveolar regeneration with all-trans retinoic acid have failed.

Neutrophil elastase inhibitors (NE)

They offer an alternative to AAT augmentation therapy that does not rely on intravenous or nebulized routes.

One such drug is alvelestat (Mereo), which has recently completed a phase 2/3 trial, known as ASTRAEUS, of reducing the biomarkers desmosine and Aα-val360, in urine.

Another NE inhibitor, PHP-303 (pH Pharma) has completed phase 1 trials, with a promising safety profile.

AAT Increase

It is based on the derivation of human plasma donations.

It is an effective and safe treatment, but it depends on human donors, it is expensive and its administration is intravenous in a day hospital, and requires about 2 hours for its infusion.

The synthetic production of AAT or NE inhibitors could reduce this limitation; in addition, the treatment until now has been intravenous, but only a minority of the infused AAT reaches the lung.

On the other hand, an inhaled route can improve efficiency, while its administration is less invasive to administer. In addition, dosing escalation strategies vary in the literature, with equivocal evidence between regimens [5,14,17].

Finally, this therapy only addresses lung disease, that is, approaches aimed at treating liver disease are required if we want to treat all patients adequately.

The current status of drug development for AATD is summarized in the following table.

SPARTA Trial

The SPARTA trial of 60 mg/kg versus 120 mg/kg human AAT is awaiting results, which are anticipated to be available in 2026.

Another novel strategy is the administration of human AAT subcutaneously (ClinicalTrials.gov Identifier: NCT04722887), which will allow for home administration via infusion pump.

Given the limited availability of human AAT, research is underway to synthesize functional AAT, called recombinant AAT (rAAT).

This also increases the potential to create a maximally efficient AAT protein.

INBRX-101 (Inhibrx) is a rAAT Fc fusion protein that has completed Phase I trials showing normal serum levels of AAT in 24 patients with AATD, with an acceptable safety profile.

Inhaled AAT

Eliminates the need for intravenous access and allows for administration directly to the site of interest, which is the lung.

Less drug is needed to achieve the same lung tissue concentration.

An inhaled human AAT product (KAMADA-AAT, Kamada), has completed Phase 2 trials.

Results included significantly higher functional AAT levels in epithelial lining fluid (ELF) at doses of 80 mg and 160 mg.

Corrective drugs

AAT-correcting drugs aim to change the shape of the misfolded dysfunctional AAT protein, thereby improving its function.

In addition, they also prevent the polymerization of AAT in the liver, which is the main cause of AATD liver disease.

Trials of these drugs are in the early stages [33–35]. VX-864 (Vertex) showed a significant improvement in functional AAT levels versus placebo.

(Mean difference +2.2 to +2.3 μmol/L across 3 doses, p < 0.0001 in all 3 cases) in a phase 2 trial of 44 participants.

ADVANCE Research

Gene therapy has the potential to act by altering DNA or RNA to produce functional AAT instead of misfolded proteins.

The ADVANCE study is a phase 1/2 trial of ADVM-043 (Adverum), which uses a viral gene transfer vector to deliver a functional gene to the liver of 6 patients.

Functional human AAT is thus expressed, but serious adverse events have been reported.

Nucleotide editing therapies

The development of nucleotide editing therapies is a very active area: BEAM-302 (Beam) is described as a “liver-targeted lipid nanoparticle formulation of base editing reagents.

It has reportedly been able to correct alterations in the SERPINA1 gene in mouse models, with increases in serum AAT and a reduction in liver polymers.

Similarly, Intellia has developed NTLA-3001, a CRISPR-mediated targeted gene editing therapy.

Wave Life Sciences and GSK have collaborated to develop WVE-006, an RNA editing oligonucleotide that offers to correct single nucleotide mutation at the mRNA stage.

Fazirsiran (Takeda)

It is described as an RNA interference therapy, which causes degradation of AAT RNA, thus reducing AAT production from hepatocytes, polymerization and subsequent liver disease.

In this case, in the phase 2 trials, liver biopsies were taken from 15 patients with PiZZ AATD and liver disease at baseline and at 12 weeks, with a median reduction of -83.3% in AAT.

Serum liver enzymes were also reduced in all patients, and fibrosis regression was observed in the majority. The safety profile is good.

Ongoing trials

Phase 3 trials in larger samples are ongoing.

Another RNA interference therapy, belcisiran (Dicerna), is also in phase 2 trials.

Future therapeutic therapies AATD

En la siguiente figura se resumen las diferentes dianas terapéuticas en la DAAT.

Key points

1. Currently, IV AAT therapy remains the only disease-modifying and well-tolerated pharmacological intervention available for AATD.
2. In the short term, the use of chaperones could be a promising treatment, as well as new molecules that interfere with RNA, inhibitors of AAT or neutrophil elastase, and inhaled AAT that may improve efficiency while being easier to administer.
3. In the long term, there is great potential for gene therapy:
   • The use of dual-function vectors that inhibit Z-AAT gene expression and promote M-AAT biological activity is a viable approach for the correction of pulmonary and hepatic manifestations related to AATD.
   • Co-administration of AAT viral vectors and capsid-specific Treg cells is a way to avoid immune responses, improving their efficiency and reducing adverse events resulting from their administration.
   • Gene editing strategies, including the use of RNA silencers and CRISPR-Cas9, are very promising for the correction of specific mutations in the SERPINA1 gene.
4. Strategies to recreate whole organs for transplantation, or repopulation with hepatocytes expressing corrected AAT would be very useful, as they would allow simultaneous treatment of lung and liver disease associated with AATD.
5. Homogeneous and robust evaluation criteria for all these therapies are needed, which assess the relationship between the biological activity of AAT:
   • Rate of progression of lung parenchymal and extracellular matrix degradation.
   • Inflammatory state of the lung.
   • Clinical, functional and imaging efficacy.
6. It is necessary to identify new biomarkers that evaluate the levels of disease progression and response to AATD treatments.

Reference sources

1. McElvaney NG, Burdon J, Holmes M, et al. Long-term efficacy and safety of alpha1 proteinase inhibitor treatment for emphysema caused by severe alpha1 antitrypsin deficiency: an open-label extension trial (RAPID-OLE). Lancet Respir Med. 2017 Jan;5 (1):51–60. doi: 10.1016/S2213-2600(16)30430-1
2. De Soyza J, Pye A, Turner AM. Are clinical trials into emerging drugs for the treatment of alpha-1 antitrypsin deficiency providing promising results? Expert Opin Emerg Drugs. 2023 Dec;28(4):227-231. doi: 10.1080/14728214.2023.2296088.
3. Campos MA, Kueppers F, Stocks JM, et al. Safety and pharmacokinetics of 120 mg/kg versus 60 mg/kg weekly intravenous infusions of alpha-1 proteinase inhibitor in alpha-1 antitrypsin deficiency: a multicenter, randomized, double-blind, crossover study (SPARK). COPD: J Chronic Obstructive Pulmonary Dis. 2013 Dec;10 (6):687–695.
4. LLC GT. A study to evaluate safety, tolerability and pharmacokinetics of two different doses of Alpha1-proteinase inhibitor subcutaneous (human) 15% in participants with Alpha1-antitrypsin deficiency. 2021. Available from: https://classic.clinicaltrials.gov/ show/NCT04722887
5. Miravitlles M, Dirksen A, Ferrarotti I, et al. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α 1 -antitrypsin deficiency. Eur Respir J. 2017 Nov;50(5):1700610.
6. Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis. 2016 Jun 6;3(3):668–682. doi: 10.15326/jcopdf.3.3.2015.0182

Source: Centro Andaluz Alfa 1

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¿What is?

It is a serious, rare disease.

It affects a small number of people: less than 5 out of 10,000 and about 80% are of genetic origin.

Diagnosis of rare diseases

Minority diseases are those with a low prevalence (< 5/10,000 inhabitants).

This may affect a late diagnosis due to the difficulty in conducting research.

This complexity is justified by the very low number of diagnoses, as well as the scarce financing of research projects.

It is worth mentioning the inaccessibility to specific treatments.

Also, most are genetic and hereditary, and the lack of treatment can affect the quality of life of patients and families.

Rare diseases: Accreditation of Excellence

The Spanish Society of Internal Medicine has awarded the Minority Diseases Unit of the San Cecilio Clinic in Granada

A team made up of 29 people from 18 specialties is recognized for its great professional work in patient care, training and research.

This team of professionals received the highest level of recognition, meeting all the requirements of excellence rigorously, according to the levels of demand of the SEMI certification.

Synergies between professionals

Phd. Pilar Giner, head of the Internal Medicine service, mentions that these results have been achieved thanks to the collaboration and effort of this multidisciplinary team.

For his part, Manuel Reyes, director of the San Cecilio Clinic, congratulated the entire team and shows the pride he feels for having achieved the accreditation that certifies good patient care.

The San Cecilio Clinic already has four additional certifications in the following specialties: Vascular Risk Unit (Care level)

Systemic Autoimmune Diseases Unit (Advanced level)
Clinical Ultrasound (Teaching level)

More than 600 consultations and more than 100 patients attended

The Minority Diseases Unit was created in 2018 to respond to patients affected by these pathologies considered rare
Since then, the volume of services has grown progressively.

It cares for patients with diagnosed minority diseases or with a high index of suspicion due to genetic or metabolic causes and each case is analyzed comprehensively.

The objective of the unit is, according to Pilar Giner, head of the Internal Medicine service at the San Cecilio Clinic, “to offer specific dedication, care adjusted to the complexity of these diseases and a multidisciplinary approach to the patient”

To do this, the specialists who make up the unit address the specific problems of each patient in order to subsequently make decisions by consensus.

These patients mostly belong to the referral area of the hospital, although the number of referrals to the unit from other health areas is growing.

Its operation of the unit is possible thanks to the coordination of the Internal Medicine service and the involvement of the 29 professionals

These belong to 18 medical specialties and other professional categories such as nursing, psychology, or pharmacy.

This joint work allows us to attend to a very varied profile of patients, since the minority diseases taken as a whole are numerous, with more than 7,000 different ones described.

Source: Hospital Clínico San Cecilio

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

History of nursing in Spain

In 1977, the specialties law separating Pulmonology from Cardiology was approved in Spain.

Since then, both specialties have been established separately, making great advances in medical research.
Nursing, in Spain, has been practiced as such since 1857 when the practitioner’s career could be studied as a regulated free education.

In 1924, the National Health School was founded, and its purpose was to train doctors and create a health nursing body that would act as auxiliary personnel, Health Technical Assistants, known as ATS.

Already in 1952 the laws were reformed and the titles of Practitioners, Midwives and Nurses were unified.

In this way, it gave rise to the recent title of Diploma in Nursing, with the recognition of a DUE university degree and the profession of Nursing, with its own body of knowledge.

Respiratory Nursing

• In respiratory diseases, the nursing role is key in the appropriate approach to the patient.
• Respiratory nursing focuses its care on promoting the highest degree of respiratory health in the population.
• Respiratory nurses are advisors in managing the care of patients with respiratory problems.

That is, they evaluate and implement new ways of caring for respiratory patients and are experts in their field with extensive knowledge of respiratory complications both in the hospital environment and in the community.

For some authors, respiratory assessment is an essential element in the basic training of nursing students.

However, the reality is that general nurses express doubts regarding basic aspects of this, such as measuring respiratory rate or the technique for performing blood gases.

Currently, there is no recognized specialty as respiratory nursing in our country, despite it being a need expressed on numerous occasions by the group of nurses who provide care in the pulmonology environment.

Respiratory system

The respiratory system is a complex anatomical system that includes the lungs, airways, various parts of the central nervous system related to the control of ventilation, respiratory muscles and the rib cage.

The assessment is a systematic process that includes clinical history and physical examination that consists of:

• Recognize changes in lung status.
• Determine interference in daily activities.

Therefore, nursing staff must assess whether there are significant changes in these aspects; In addition, if there are factors that affect the respiratory control mechanisms

Among the characteristics to be evaluated we can mention the frequency, volume, rhythm, ease and efforts, respiratory sounds and chest movements in addition to the presence of cough and expectoration in the patient.

Importance of Respiratory Nursing

Respiratory nursing plays a fundamental role in many areas of patient care, such as the following:

1. The hospitalization floor
2. Functional testing laboratories
3. Specialized consultations
4. Patient care in the face of smoking
5. lung transplant
6. Bronchoscopy
7. sleep unit
8. Ventilation
9. Home care.

In general, there are a variety of roles and responsibilities, depending on the environment and patient needs.

For example, they assess respiratory status and needs with tools such as pulse oximetry and chest x-rays.

They also develop and implement care plans in collaboration with other health professionals.

On the other hand, they administer medications and treatments such as oxygen therapy and bronchodilators.

Another very important aspect is to educate patients about their condition and how to prevent complications.

They also monitor progress and adjust care plans accordingly.

As well as providing emotional support to patients and their families.

Chronic respiratory diseases

On the other hand, it faces the care of chronic patients, which requires, in many cases, complex treatments such as:

1. Non-invasive mechanical ventilation (NIMV)
2. Treatment with continuous airway pressure (CPAP)
3. Home respiratory therapies.

It is known that this type of treatment affects the patient and their families, as it involves a change in lifestyle and requires monitoring by specialized personnel.

Specific treatments

Likewise, currently, the route chosen for the treatment of obstructive respiratory diseases is inhaled.

Given the growing appearance of new devices and the importance of correct technique for their administration, constant updating by nursing staff is essential, where it plays a fundamental role in patient education.

Conclusions on respiratory nursing

For all these reasons, the existence of groups, as well as training and discussion forums, are essential.

The objective is to promote the growth of respiratory nursing and give value to the role of the specialized nurse.

Nurses are essential in the care and monitoring of patients with respiratory pathologies, being a reference for family members and caregivers.

Source: Centro Andaluz Alfa 1, Consejo General de enfermería, dialnet, sogapar

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