What is it?

Alpha-1 Antitrypsin Deficiency (AAT deficiency) is a genetic disease that affects the lung and liver . Alpha-1 Antitrypsin is a protein that is produced by the liver. When there is not enough AAT, the lungs are more easily damaged by fumes, dust or cigarette smoking. This leads to diseases like COPD, bronchiectasis, cirrhosis, emphysema, respiratory failure and vasculitis. In people who suffer from AAT deficiency, the liver makes a large amount of abnormal AAT and if the liver cannot break down the abnormal protein, it gradually gets damaged and scarred. People who inherit only one mutated gene are carriers, and they will probably not have a deficiency but low levels of the protein and may develop some of the complications if they are exposed to smoke, dust or fumes. The most common mutations are called PiZ and PiS. Symptoms usually begin between 20-50 years of age.

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Additional names

This group contains additional names:
- Alpha-1-Antitrypsin Deficiency

Signs & symptoms

Symptoms include shortness of breath, wheezing, chronic cough, fatigue, recurring lung infections. Liver damage symptoms include jaundice, ascites, intestinal bleeding, weakness and fatigue.

Diagnosis

Alpha-1 Antitrypsin Deficiency is diagnosed through genetic tests that detect mutations in the AAT gene. Blood tests can measure the level of the AAT protein in the blood. Lung function test and a chest CT scan may also be performed to detect damage to the lungs.

Treatment

Although the disease has no cure, there are some treatments that help such as augmentation therapy with AAT protein intravenously, inhaled bronchodilators and inhaled steroids, oxygen, pulmonary rehabilitation and a lung transplant in the case of severe breathing problems.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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