Condition
Hemochromatosis
Hemochromatosis is a genetic disorder of iron metabolism that causes excessive iron absorption and accumulation in the body's tissues.
Overview
Aetiology
Hemochromatosis is a genetic condition involving 4 main types of gene mutations. All forms will have virtually identical outcomes. The most common is hereditary (type 1) hemochromatosis, caused by mutations in the HFE gene, which leads to increased intestinal iron absorption. The rarer forms include juvenile (type 2) hemochromatosis, which presents earlier and more severely, type 3 caused by transferrin receptor 2 mutations, and type 4 (ferroportin disease). In each form, iron is deposited in organs such as the liver, heart, pancreas, and joints, where it drives oxidative damage over time.
Presentation
Symptoms
Early hemochromatosis is often asymptomatic. As iron accumulates, common symptoms include fatigue, joint pain, abdominal pain, and loss of libido. Advanced disease may produce a bronze or gray skin discoloration, liver enlargement, and features of diabetes and heart failure.
Assessment
Diagnostic Considerations
Iron studies showing a raised transferrin saturation and ferritin support the diagnosis. Genetic testing can be done to identify the gene mutation and confirm this diagnosis.
Assessment
Differential Diagnosis
- Secondary iron overload (repeated transfusions, chronic hemolysis)
- Alcoholic liver disease
- Non-alcoholic fatty liver disease
- Other causes of chronic liver disease
Context
Comorbidities
- Liver damage
- Diabetes
- Arthropathy
- Erectile dysfunction
- Cardiomyopathy
The Compounds
Research Compounds (1)
Individual molecules studied for hemochromatosis. These are research findings, not supplements to take — each page states how far the evidence goes.
Silymarin
Flavonolignan complex
Silymarin — the flavonolignan complex of milk thistle seed, the best-studied of the herb's constituents and the principal driver of its hepatoprotective, antioxidant, antifibrotic, and antiviral activity.