Understanding Hemochromatosis: Signs, Diagnosis, and Management

Hemochromatosis is an iron storage disorder characterized by excessive total body iron and the deposition of iron in tissues, which can lead to a variety of health issues if not managed properly. This condition is primarily caused by mutations in the hemochromatosis protein gene (HFE), located on chromosome 6, although other genes can also contribute to the disorder. The HFE gene mutation is inherited in an autosomal recessive manner and plays a critical role in regulating iron metabolism in the body.

Presentation of Hemochromatosis

Hemochromatosis typically becomes symptomatic after the age of 40, with a later onset in females due to menstruation, which regularly eliminates blood and iron from the body. Symptoms often emerge after menopause and include:

• Chronic tiredness
• Joint pain due to iron deposits in the joints causing arthritis
• Skin pigmentation or bronze discoloration due to iron deposits
• Hair loss
• Sexual dysfunction, including erectile dysfunction or amenorrhea
• Cognitive issues, such as memory problems and mood disturbances

Diagnosing Hemochromatosis

The diagnosis of hemochromatosis involves assessing serum ferritin levels, which can indicate iron overload in the body. However, ferritin is also an acute phase reactant and can be elevated due to other causes, such as inflammation. Therefore, a transferrin saturation test is also performed to distinguish between high ferritin levels caused by iron overload and those caused by other factors. If both serum ferritin and transferrin saturation are high with no other explanation, genetic testing is conducted to confirm the diagnosis of hemochromatosis. Previously, a liver biopsy with a Perl's stain was the gold standard for diagnosis, but it has been largely replaced by genetic testing.

Complications of Hemochromatosis

If left untreated, hemochromatosis can lead to several complications, including:

• Type 1 diabetes due to iron deposits in the pancreas
• Liver damage and cirrhosis, along with the potential for hepatocellular carcinoma
• Endocrine and sexual problems, such as hypogonadism, impotence, amenorrhea, and infertility
• Cardiomyopathy and heart failure from iron deposits in the heart
• Hypothyroidism due to iron deposits in the thyroid gland
• Arthritis from calcium deposits in the joints

Managing Hemochromatosis

The primary treatment for hemochromatosis is venesection, a procedure that involves the weekly removal of blood from the body to reduce excess iron levels. Monitoring serum ferritin levels and addressing any complications are also crucial aspects of managing the condition.

In summary, hemochromatosis is a significant medical condition that requires early diagnosis and effective management to prevent serious health complications. Understanding the symptoms, diagnostic methods, and treatment options is essential for those affected by the disorder and for healthcare professionals involved in their care.

For further information and resources on hemochromatosis and other medical topics, visit Zero to Finals or explore the gastroenterology section of the Zero to Finals Medicine book.

Watch the full video on Hemochromatosis here.