Alpha-1 Antitrypsin (A1AT) Deficiency is a rare genetic disorder that affects the lungs and liver.
Causes
1. Genetic mutation: A1AT deficiency is caused by mutations in the SERPINA1 gene, which codes for the A1AT protein.
2. Inherited: The disorder is inherited in an autosomal codominant pattern, meaning that a person can inherit one or two copies of the mutated gene.
Symptoms
1. Chronic obstructive pulmonary disease (COPD): A1AT deficiency can cause lung damage and COPD symptoms, such as shortness of breath, wheezing, and coughing.
2. Liver disease: A1AT deficiency can also cause liver damage and disease, including cirrhosis and liver cancer.
3. Skin problems: Some people with A1AT deficiency may experience skin problems, such as panniculitis (inflammation of the fat layer under the skin).
Diagnosis
1. Blood tests: Blood tests can measure the level of A1AT in the blood and detect genetic mutations.
2. Pulmonary function tests: These tests can assess lung function and detect COPD.
3. Liver function tests: These tests can assess liver function and detect liver damage.
Treatment
1. Augmentation therapy: This involves injecting A1AT protein into the bloodstream to increase levels and protect the lungs.
2. Lung transplantation: In severe cases of COPD, lung transplantation may be necessary.
3. Liver transplantation: In severe cases of liver disease, liver transplantation may be necessary.
4. Smoking cessation: Quitting smoking can help slow the progression of COPD.
5. Avoiding lung irritants: Avoiding exposure to lung irritants, such as dust and chemicals, can help slow the progression of COPD.
This article is for information purpose only. Please consult your doctor for the treatment.