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[Hereditary hemochromatosis]
S Durupt1, I Durieu, R Nové-Josserand
1Service de médecine interne, centre hospitalier Lyon-Sud, France.
Insights
Hereditary hemochromatosis diagnosis is now simpler due to the HFE gene discovery. Early screening and phlebotomy treatment are key for managing this common Caucasian disorder.
Area of Science:
- Genetics
- Hepatology
- Internal Medicine
Background:
- Hereditary hemochromatosis is a prevalent genetic disorder in Caucasians.
- Classic symptoms like diabetes and cirrhosis now represent only 10% of new cases.
- The HFE gene discovery revolutionized diagnostic approaches.
Purpose of the Study:
- To outline the current diagnostic and management strategies for hereditary hemochromatosis.
- To highlight the impact of HFE gene discovery on clinical practice.
- To discuss the implications for patient screening and treatment.
Main Methods:
- Genetic testing for C282Y mutation in HFE gene.
- Transferrin-saturation testing.
- Clinical assessment for symptoms and risk factors.
Main Results:
- HFE gene discovery enables easy differentiation from other iron overload conditions.
- Transferrin saturation >45% warrants C282Y mutation investigation.
- Liver biopsy is less critical for diagnosis but useful for cirrhosis assessment.
Conclusions:
- HFE gene discovery simplifies hereditary hemochromatosis diagnosis.
- Phlebotomy remains the primary treatment.
- Family screening is recommended for diagnosed cases.
- Further research is needed on C282Y homozygotes without iron overload and population screening.
Introduction:
Hereditary hemochromatosis is a fairly common disease in the Caucasian population, with a prevalence estimated at between 1.5 to 3/1,000 inhabitants. Over the past few years, its symptomatology has altered; at present, its clinical aspect with diabetes mellitus, cirrhosis, and darker skin pigmentation only constitutes 10% of new cases of this disease.
Current Knowledge And Key Points:
In 1996, the discovery of the C282Y mutation in the HFE gene radically altered the diagnostic approach to hereditary hemochromatosis. At present, any patient admitted with an isolated case of asthenia, or with arthralgia or hypertransaminasemia should be examined via transferrin-saturation testing: if the transferrin saturation coefficient is > 45%, then the presence of the C282Y mutation should be investigated to confirm the diagnosis of hemochromatosis. A liver biopsy is no longer necessary to establish the diagnosis, but this is still useful in cases of possible cirrhosis, which is the main risk factor for hepatocellular carcinoma. Phlebotomy remains the sole recommended treatment, and should be undertaken in a case-specific manner. Family screening should be carried out for all first-degree relatives for every new case that is diagnosed.
Future Prospects And Projects:
The discovery of the HFE gene has permitted hereditary hemochromatosis to be easily differentiated from other forms of hepatic iron overload including a new syndrome, dysmotabolic hepatosiderosis. Casos of homozygotic C282Y without hepatic iron overload have been described, but the clinical outcome of some of these cases requires further study, and adds to the controversy on whether systematic population screening should be made available.