Hemochromatosis type 1

Hemochromatosis Type 1

Hemochromatosis type 1, also known as hereditary hemochromatosis, is a genetic disorder characterized by excessive absorption of dietary iron, resulting in iron overload in the body. This condition is primarily caused by mutations in the HFE gene, which plays a crucial role in regulating iron absorption.

Pathophysiology

Hemochromatosis type 1 is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. The most common mutations associated with this disorder are C282Y and H63D in the HFE gene. These mutations lead to decreased production of hepcidin, a hormone that inhibits iron absorption in the intestine. As a result, individuals with hemochromatosis type 1 absorb more iron than necessary, leading to iron accumulation in various organs, particularly the liver, heart, and pancreas.

Clinical Manifestations

The symptoms of hemochromatosis type 1 often do not appear until adulthood, typically between the ages of 40 and 60. Common symptoms include:

• Fatigue
• Joint pain
• Abdominal pain
• Diabetes mellitus ("bronze diabetes")
• Skin hyperpigmentation ("bronze skin")
• Liver dysfunction, which can progress to cirrhosis
• Cardiomyopathy

Diagnosis

Diagnosis of hemochromatosis type 1 involves a combination of clinical evaluation, laboratory tests, and genetic testing. Key diagnostic tests include:

• Serum ferritin and transferrin saturation levels: Elevated levels suggest iron overload.
• Genetic testing for HFE mutations: Identifying C282Y and H63D mutations confirms the diagnosis.
• Liver biopsy: May be performed to assess the extent of iron deposition and liver damage.

Treatment

The primary treatment for hemochromatosis type 1 is phlebotomy, a procedure that involves the removal of blood to reduce iron levels. Regular phlebotomy sessions can help maintain normal iron levels and prevent organ damage. In some cases, chelation therapy may be used to remove excess iron, especially if phlebotomy is not feasible.

Prognosis

With early diagnosis and appropriate treatment, individuals with hemochromatosis type 1 can lead normal lives. However, if left untreated, iron overload can lead to serious complications, including liver cirrhosis, heart disease, and diabetes.

Also see

• HFE gene
• Iron metabolism
• Cirrhosis
• Diabetes mellitus
• Cardiomyopathy