DISEASE SCANNER
Global Incurable Diseases Tracker
Back to Globe
Hepatologic Disease
Hereditary Hemochromatosis (Liver Manifestations)
HIGH SEVERITY
The most common genetic disorder in populations of Northern European descent, causing iron overload due to increased intestinal absorption. Leads to cirrhosis, hepatocellular carcinoma, and liver failure if untreated. HFE C282Y homozygosity most common.
Global Affected
3.0M
Countries
19
Symptoms
Fatigue
Arthralgias
Hepatomegaly
Hyperpigmentation
Diabetes (bronze diabetes)
Hypogonadism
Cirrhosis
Hepatocellular carcinoma
Treatment Options
Therapeutic phlebotomy
Iron chelation (deferasirox)
Dietary modifications
Treatment of complications
Surveillance for HCC
Liver transplantation
Genetic counseling
Risk Factors
1HFE gene mutations (C282Y, H63D)
2Male gender
3Alcohol consumption
4Northern European ancestry
5Family history
6Hepatitis C
Diagnostic Methods
- 1Transferrin saturation
- 2Serum ferritin
- 3HFE genetic testing
- 4Liver biopsy
- 5MRI (liver iron quantification)
- 6Liver function tests
Prognosis
Excellent with early diagnosis and treatment; normal lifespan. Cirrhosis and diabetes irreversible. HCC risk persists after iron depletion.
Prevention
- Family screening
- Genetic testing
- Early phlebotomy
- Avoidance of alcohol
- Avoidance of raw shellfish
- Hepatitis A/B vaccination
Research Status
Therapeutic phlebotomy and Iron chelation (deferasirox) are primary treatments. Research focuses on improved therapies and outcomes.
Affected Countries
Sources
- https://www.niddk.nih.gov/health-information/liver-disease/hemochromatosis
- https://www.liverfoundation.org/for-patients/about-the-liver/diseases-of-the-liver/hemochromatosis
- https://www.ncbi.nlm.nih.gov/books/NBK1440
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.