DISEASE SCANNER
Global Incurable Diseases Tracker
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Hepatologic Disease
Alpha-1 Antitrypsin Deficiency (Liver Disease)
HIGH SEVERITY
Liver disease caused by accumulation of misfolded alpha-1 antitrypsin protein in hepatocytes. Can present as neonatal cholestasis, childhood cirrhosis, or adult chronic liver disease. Same genetic defect causing pulmonary disease.
Global Affected
200.0K
Countries
17
Symptoms
Neonatal cholestasis
Poor growth
Hepatomegaly
Jaundice
Ascites
Cirrhosis
Hepatocellular carcinoma
Pruritus
Treatment Options
Supportive care
Ursodeoxycholic acid
Management of complications
Liver transplantation (definitive)
Gene therapy (emerging)
Surveillance for HCC
Vaccinations
Risk Factors
1SERPINA1 ZZ genotype
2SERPINA1 SZ genotype (milder)
3Autosomal codominant inheritance
4Family history
5Northern European ancestry
Diagnostic Methods
- 1Serum alpha-1 antitrypsin level
- 2Phenotyping/genotyping
- 3Liver function tests
- 4Liver biopsy
- 5PAS-positive diastase-resistant inclusions
- 6Pulmonary function tests
Prognosis
Variable; 10% of ZZ adults develop cirrhosis. Liver transplant curative. HCC risk in cirrhotic patients.
Prevention
- Genetic counseling
- Family screening
- Avoidance of alcohol
- Hepatitis vaccination
- Smoking cessation (for lungs)
- Early diagnosis
Research Status
Supportive care and Ursodeoxycholic acid are primary treatments. Research focuses on improved therapies and outcomes.
Affected Countries
Sources
- https://www.niddk.nih.gov/health-information/liver-disease/alpha-1-antitrypsin-deficiency
- https://www.liverfoundation.org/for-patients/about-the-liver/diseases-of-the-liver/alpha-1-antitrypsin-deficiency
- https://www.ncbi.nlm.nih.gov/books/NBK1519
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.