Hereditary haemochromatosis: A review

Area of Science:

• Genetics
• Gastroenterology
• Hematology

Background:

• Hereditary haemochromatosis (HH) is the most prevalent genetic disorder in Northern European populations.
• Mutations in the HFE gene cause excessive intestinal iron absorption and deposition in organs like the liver, heart, and pancreas.
• Variable clinical penetrance means not all individuals with HFE mutations develop symptomatic HH, complicating diagnosis.

Purpose of the Study:

• To highlight the importance of early diagnosis for Hereditary haemochromatosis (HH).
• To outline diagnostic approaches for both HFE-related and rarer non-HFE genetic causes of iron overload.
• To emphasize the effectiveness of venesection in managing HH.

Main Methods:

• Clinical assessment of symptoms and organ damage, including transient elastography for hepatic fibrosis.
• Magnetic resonance imaging (MRI) for assessing liver iron loading in patients negative for HFE mutations.
• Genetic testing for HFE and rarer non-HFE mutations.

Main Results:

• Early diagnosis of HH is challenging due to asymptomatic presentation.
• Transient elastography and MRI are key tools for evaluating disease severity and organ involvement.
• Venesection therapy demonstrates efficacy in improving HH symptoms, liver fibrosis, and patient survival.

Conclusions:

• Prompt identification and management of HH are crucial for preventing severe complications.
• A comprehensive diagnostic strategy, including genetic testing and imaging, is necessary.
• Venesection remains the primary and effective treatment for hereditary haemochromatosis.