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Alpha-1 Antitrypsin Deficiency (Liver Involvement)

Protein folding disorder and hepatic damage due to SERPINA1 gene mutations.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Dahiliye (İç Hastalıkları) department. Book Appointment →

What is Alpha-1 Antitrypsin Deficiency (Liver Involvement)?

Alpha-1 antitrypsin (A1AT) deficiency is an autosomal codominant inherited disease characterized by accumulation of abnormally folded A1AT protein in hepatocytes due to mutations in the SERPINA1 gene, with reduced circulating levels. The most severe phenotype is ZZ homozygosity.

The deficiency can cause both pulmonary involvement (early-onset emphysema) and hepatic involvement (neonatal hepatitis in children, cirrhosis and hepatocellular carcinoma in adults). In the lungs, insufficient elastase inhibition is the mechanism, while in the liver, accumulation of toxic substance prevails.

Diagnosis is made by serum A1AT level, phenotyping, and genotyping. Early detection is critical, particularly for protective lung behaviors (smoking cessation).

Symptoms

Neonatal jaundice and prolonged neonatal hepatitis
Unexplained transaminase elevation in adults
Fatigue and right upper quadrant discomfort
Findings of cirrhosis (ascites, encephalopathy, varices)
Early-onset emphysema and dyspnea
Failure to thrive in children
Panniculitis and vasculitis (rare)

Risk Factors

Family history of A1AT deficiency
Northern European ancestry
ZZ phenotype (highest risk)
Smoking (accelerates lung disease)
Alcohol consumption (accelerates liver disease)
Coexistence of chronic viral hepatitis
Obesity and metabolic syndrome

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Prolonged jaundice during the neonatal period
  • When COPD/emphysema is diagnosed at a young age
  • Unexplained elevation of liver enzymes
  • When A1AT deficiency has been reported in the family
  • If signs of cirrhosis emerge

Treatment Methods

01
A1AT replacement therapy (IV infusion) for pulmonary involvement
02
No specific medical treatment for hepatic involvement — supportive approach
03
Strict smoking cessation and avoidance of alcohol
04
Hepatitis A and B vaccinations for protection
05
Transplantation in advanced liver disease
06
Family screening and genetic counseling

Which Department to Visit?

You can visit our Dahiliye (İç Hastalıkları) department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.