Description
An inherited disorder that involves absorbing and retaining too much iron. The excess iron is stored throughout the body but concentrated in the liver, heart, and pancreas. These abnormal accumulations of iron cause liver failure (cirrhosis), heart disease (congestive heart failure), and diabetes. Treatment involves removing blood from your body to decrease the iron levels.
Symptoms
Abdominal pain, fatigue, darkening of skin color (bronzing), joint pain, lack of energy, loss of body hair, loss of sexual desire, impotence, high glucose levels, low thyroid levels, weight loss, and weakness. Advanced disease causes liver failure, liver cancer, shortness of breath, and fainting.
Tests
Common tests used for diagnosis and treatment
Workup:
A history and physical exam will be performed. Blood tests will be done to determine the iron levels in the body. MRI and/or a liver biopsy is sometimes performed to confirm the diagnosis. Genetic testing can detect a defective gene in hereditary hemachromatosis.
Tests:
Complete blood count (CBC), Comprehensive metabolic panel (CMP), Electrocardiogram (EKG), Urinalysis (UA), X-ray
Other Specific Tests: Serum ferritin, serum iron, serum transferrin saturation, liver biopsy
Specialists:
Gastroenterology, Internal Medicine, Pediatrics, Family Practice, Blood and Cancer Care (hematology and oncology), Pediatric Gastroenterology, Pediatric Hematology and Oncology
Workup:
A history and physical exam will be performed. Blood tests will be done to determine the iron levels in the body. MRI and/or a liver biopsy is sometimes performed to confirm the diagnosis. Genetic testing can detect a defective gene in hereditary hemachromatosis.
Tests:
Complete blood count (CBC), Comprehensive metabolic panel (CMP), Electrocardiogram (EKG), Urinalysis (UA), X-ray
Other Specific Tests: Serum ferritin, serum iron, serum transferrin saturation, liver biopsy
Specialists:
Gastroenterology, Internal Medicine, Pediatrics, Family Practice, Blood and Cancer Care (hematology and oncology), Pediatric Gastroenterology, Pediatric Hematology and Oncology
Treatment
The goal of therapy is to remove excess iron from the body and treat any organ damage. Blood is removed from the body (phlebotomy) until the iron level is reduced. Most patients have a pint removed every 1-2 weeks initially. The process may require months to years and will need to continue to keep the level under control. Dietary restrictions must also be followed to prevent re-accumulation. Testosterone hormone treatment may be recommended for loss of sexual drive or impotence. Secondary disease such as diabetes, arthritis, liver failure, and heart failure will be treated as appropriate.