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Alpha-1 Antitrypsin Deficiency — Systemic Manifestations

Hereditary serpinopathy that causes early-onset emphysema, liver disease and panniculitis.

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 — Systemic Manifestations?

Alpha-1 antitrypsin (AAT) deficiency is an autosomal codominant disorder caused by mutations in the SERPINA1 gene. Pathogenic Z (Glu342Lys) and S alleles cause low circulating AAT and accumulation of misfolded protein in hepatocytes.

Lung disease results from unopposed neutrophil elastase activity, leading to early-onset basal panacinar emphysema. Liver involvement reflects intrahepatic Z-protein polymer accumulation and ranges from neonatal cholestasis to adult cirrhosis and hepatocellular carcinoma.

Skin and vascular manifestations include necrotizing panniculitis and ANCA-associated vasculitis. Diagnosis combines low AAT serum levels, phenotyping (Pi typing) and SERPINA1 genotyping.

Symptoms

Early-onset dyspnea and chronic cough
Wheezing and recurrent respiratory infections
Chronic liver disease, jaundice, ascites
Painful subcutaneous nodules (panniculitis)
Skin ulcers with necrosis
Hemoptysis or sinusitis (vasculitis)
Family history of premature COPD or liver disease

Risk Factors

Pi*ZZ or Pi*SZ genotype
Family member with AAT deficiency
Smoking (markedly accelerates lung disease)
Occupational dust or fume exposure
Northern European ancestry
Recurrent neonatal cholestasis

When to See a Doctor?

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

  • COPD or emphysema before age 45
  • Persistent unexplained transaminase elevation
  • Neonatal cholestatic jaundice
  • Necrotizing panniculitis without obvious cause
  • Family history of AAT deficiency
  • Bronchiectasis with low AAT level

Treatment Methods

01
Strict smoking cessation
02
Augmentation therapy with intravenous AAT in selected emphysema patients
03
Standard COPD therapy: bronchodilators, vaccines, pulmonary rehabilitation
04
Hepatology follow-up with imaging and HCC surveillance
05
Lung or liver transplantation in advanced 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.