Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin (A1AT) deficiency is an inherited SERPINA1 defect causing low circulating A1AT, unopposed neutrophil-elastase lung damage and polymer-aggregation liver injury. Clinical: early-onset panacinar emphysema (lower-lobe predominant), chronic bronchitis, and liver cirrhosis/ hepatoma in adults; also neonatal hepatitis. Treatment: smoking cessation, pulmonary rehab, IV A1AT augmentation therapy, and lung/liver transplant in end-stage disease.

Common Symptoms

Early dyspnea/emphysema; chronic bronchitis; cirrhosis/hepatoma; neonatal hepatitis; family history

Causes and Pathogenesis

SerpinaZ mutant A1AT polymerizes in hepatocytes (liver disease) and low circulating levels fail to inhibit neutrophil elastase (emphysema).

Treatment

Smoking cessation; bronchodilators; IV A1AT augmentation; lung/liver transplant; pulmonary rehab

Preventive Measures

Smoking cessation; family screening; early diagnosis in COPD.

Department to Visit

It is recommended to visit the Respiratory department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.