Alpha-1-Antitrypsin deficiency is a rare and quite unknown disease, since in Europe only 5% of affected people are diagnosed.

On World Rare Disease Day, which is celebrated today, we talk about Alpha-1-Antitrypsin deficiency, a genetic disease that has motivated our foundation's dedication to respiratory diseases. Currently, at Lovexair we continue to be aware of the importance of giving visibility to this and other rare diseases, since it is important for society to have information to better understand what rare diseases are and how they are. In Europe it is estimated that only 5% of affected people are diagnosed. In Spain there could be around 12.000 individuals with the most serious deficit.

What is Alpha-1-Antitrypsin deficiency or Alpha-1?

Alpha-1-Antitrypsin (AAT) is a protein that is produced in the liver. One of its multiple functions is to protect the lung from degradation and inflammation caused by external agents such as tobacco or other irritating substances that could be found due to environmental pollution. This ranges from exposure to fuel emissions, to workplaces where there are fine microparticles in suspension that are harmful to our lungs, as in the case of the metal, chemical, textile or mining industries.

This exposure causes respiratory disease, but in a person who has Alpha-1, the impact can be greater and contributes to a rapid decline in their lung health.

In the person who inherits Alpha-1, the protein is damaged and, consequently, it does not pass from the liver to the blood circulation as usual to protect the body.

People affected by this disease have lower than normal levels of Alpha-1 (AAT) in the blood, which increases the risk of developing certain diseases such as emphysema in the lungs, cirrhosis, cholestasis in the liver, panniculitis in the skin or vasculitis in the blood vessels. Alpha-1 is not a disease, but rather a genetic disorder that is passed from parent to child.

Each person has a phenotype that describes their genetic profile. In Alpha-1 there are degrees from greater to lesser absence of the protein in blood circulation. People with the ZZ profile, for example, are at higher risk of developing diseases, although not all of them necessarily show symptoms.

The symptoms of the disease

Symptoms suggestive of Alpha-1 in children, during the first weeks of life, are: yellowing of the skin (jaundice), whitish stools and enlarged liver.

Among older children, the presence of Alpha-1 is assessed in those with chronic liver disease, portal hypertension, or cirrhosis.

In cases where Alpha-1 deficiency is detected in childhood, it should be noted that children should be especially careful if they are smokers or have contact with irritating substances, as they will develop respiratory problems faster. do not perform the test, but suffer from respiratory problems due to starting smoking at a very young age, it is recommended that they carry out the test to diagnose Alpha-1 deficiency.

In adults, the most common symptoms are shortness of breath, wheezing, cough (productive or not), recurring colds, breathlessness or asthma that does not respond to standard treatment, year-round allergies, and decreased physical activity due to tiredness .

Why is it important for the family to perform the Alpha-1 Test?

Being a hereditary disease, it is recommended that the parents, siblings and children of the affected people undergo tests, since it can be detected in another member of the family. This would improve early diagnosis and, therefore, could prevent the appearance of other related diseases and ensure proper diagnosis and appropriate treatment.

How is it diagnosed?

For the diagnosis of Alpha-1-Antitrypsin deficiency it is necessary to perform a blood test. After this medical test there are two possibilities:

Through this test, the level of Alpha-1-Antritypsin (AAT) in the blood is measured. Normal levels of AAT concentration are between 103 and 200 mg/ml.

If the amount is less than the established normal values, a genetic study should be carried out to determine the Alpha-1 phenotype, a simple and painless test that will later be studied in the laboratory.

Definitive confirmation requires the study of the patient's genotype. In some countries, and to improve underdiagnosis, a person can request genetic tests online from specialized centers, or at their specialized clinical analysis center. Some patient organizations, such as the Alpha-1 Foundation in the United States, send kits to those interested in diagnosing this disease at home. Other platforms such as "23andme" offer this service worldwide.

In Spain, the test is requested within the health system to which you are subscribed. Currently, in our country there is a network of specialists and researchers in Alpha-1. The Alpha-1-Antitrypsin Network (REDAAT) is part of a global community of researchers and clinicians who are experts in the treatment of this hereditary disease.

The standards of care and patient care are drawn up by a team of international experts. In this sense, doctors should perform the Alpha-1 test when patients are diagnosed with any of the following pathologies:

1. COPD (Chronic Obstructive Pulmonary Disease).
2. Emphysema.
3. Asthma (especially in cases where there is poor control of this respiratory disease).
4. Bronchiectasis.
5. Dyspnea and chronic cough in many adults in the same family.
6. Liver disease, panniculitis (a skin disease), or vasculitis with no known cause.
7. Family members or blood relatives of a person diagnosed with Alpha-1.
8. People who have had a proteinogram (test that measures the types of protein in the liquid part of a blood sample) and after this test a decrease in alpha globulins is observed.

Treatment

Currently there is no known cure, but there are treatments that help stabilize the disease. For this reason, once diagnosed, the patient must follow some life guidelines that help him control his disease:

1. Lead a healthy life and stay away from tobacco, avoiding exposure to toxic substances. Properly treat respiratory infections, perform physical exercise and maintain an adequate weight.
2. Administer the flu vaccine.
3. Avoid sudden changes in temperature and spaces where there is the possibility of catching a cold.
4. If there is respiratory pathology to avoid fatigue, inhaled therapy will be applied. In case of respiratory failure, the patient will use oxygen therapy, and in the most severe cases in which the disease damages their lungs, the person will receive a lung transplant.
5. When suffering from liver disease, the controls prescribed by the doctor must be followed: such as avoiding alcohol consumption and taking medications without control.
6. Today there is alpha-1-antitrypsin replacement therapy. This procedure is not available in all countries. Currently, in Spain some patients receive treatment in hospital through an intravenous route. In these cases, the person goes to the hospital every 10-21 days to receive the therapy. Many studies show that this treatment helps prevent the deterioration of lung function and, thus, the affected person has a better quality of life.

If you want to know more about Alfa -1 visit our website and get to know the different patient organizations that are dedicated to patient support, research and the development of awareness projects such as the HappyAir global campaign http://lovexair.net/salud- pulmonary/information-about-respiratory-pathologies/alpha-1-deficiency

If you wish, you can also contact our educators by sending an email to: Cuentanos@lovexair.com

Related websites:

https://www.alpha1.org/
http://alpha-1global.org/es/
https://alfa1.org.es/