Alpha-1-antitrypsin deficiency

Alpha-1-antitrypsin deficiency is a genetically determined disease caused by a low content of alpha-1-antitrypsin in the blood and manifested in the form of pulmonary emphysema, liver and vascular damage.

The reason is the presence of a mutation in the SERPINA1 gene. Type of inheritance: autosomal recessive or codominant. The incidence among European residents is 1:1500-5000 people.

Liver damage is more often detected in early childhood (up to 4 months). For adults, the pulmonary form is more characteristic, which can be manifested by frequent bronchitis, pneumonia, the development of bronchial obstructive syndrome, emphysema and / or bronchiectasis. Smoking is a significant factor: smoking patients develop emphysema much earlier.

Who is at risk?Patients with a burdened family history of lung and liver diseases

• Patients suffering from bronchial asthma, bronchiectasis
• Patients with detected pulmonary emphysema according to computed tomography, especially with a location in the basal regions
• Patients with a history of spontaneous pneumothorax
• Patients younger than 40 years with diagnosed COPD or smoking index less than 20 packs/years
• Patients with necrotizing panniculitis
• Patients with chronic liver disease of unknown etiology
• Patients suffering from ANCA-associated vasculitis (Wegener's granulomatosis)

It is possible to assume the presence of the disease with the following signs:detected pulmonary emphysema according to computed tomography, especially with a location in the basal regions

• shortness of breath during physical exertion
• wheezing breath
• cough, both dry and with sputum
• the appearance of subcutaneous nodular formations of purplish-cyanotic coloration on the upper and lower extremities

If one or more of these signs are detected, it is recommended to consult a doctor. The specialist will assess the situation and appoint a follow-up examination.

For diagnosis, the following are carried out:

• Laboratory tests: general and biochemical blood tests, determination of the quantitative level of alpha-1-antitrypsin in the blood, genetic examination of SERPINA1 alleles;
• Instrumental studies: examination of the function of external respiration (bodyplethysmography, spirometry, bronchodilation, diffusion tests), multispiral computed tomography, ultrasound examination of the abdominal cavity, according to the indications of liver fibroelastometry

Conservative treatment of alpha-1-antitrypsin deficiencyTo date, the main treatment is intravenous replacement therapy with human alpha-1-antitrypsin.

The treatment is aimed at preventing further damage to the lung tissue and stabilizing the patient's condition.

In severe cases of the disease (severe emphysema and shortness of breath at rest and minimal physical exertion, despite therapy), lung transplantation is possible.

In the Moscow Clinical Scientific and Practical Center named after A.S. Loginov, treatment of alpha-1-antitrypsin deficiency is carried out by joint efforts of pulmonologists, hepatologists, rheumatologists, geneticists.

Do not delay your visit to our specialists. This will help to identify the disease in time and choose the right treatment tactics. Doctors of GBUZ MCSC named after A.S. Loginov DZM are always ready to help you.