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Medical Author:

Siamak T. Nabili, MD, MPH

Siamak T. Nabili, MD, MPH

Dr. Nabili received his undergraduate degree from the University of California, San Diego (UCSD), majoring in chemistry and biochemistry. He then completed his graduate degree at the University of California, Los Angeles (UCLA). His graduate training included a specialized fellowship in public health where his research focused on environmental health and health-care delivery and management.

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Medical Editor:

Melissa Conrad Stöppler, MD, Chief Medical Editor

Melissa Conrad Stöppler, MD, Chief Medical Editor

Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

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Iron accumulation from hereditary hemochromatosis can affect many organs in the body, leading to a variety of possible symptoms. Many individuals with hemochromatosis may not have any symptoms or disease manifestations at all, especially early in the course of the disease or in those with heterozygous genes. Some heterozygotes (one C282Y with either H63D or S65C) may have mild iron overload without overt hemochromatosis.

Because the iron overload may occur over years, most men present with symptoms of hemochromatosis in the 5th or 6th decade of life. This may lag even longer in women by 10 to 20 years because of excess iron loss from menstruation during the premenopausal years.

Initial symptoms of hemochromatosis may be non-specific including:

• weakness,
  
  
• lassitude,
  
  
• weight loss,
  
  
• change in skin color (discoloration),
  
  
• abdominal pain, and
  
  
• loss of libido.

The most commonly involved organs in hemochromatosis are the liver, pancreas, joints, skin, heart, testicles, and the thyroid gland. Some of the most common manifestations and symptoms of hemochromatosis are listed as follows:

• Hemochromatosis can cause liver disease of varying degrees, including cirrhosis and liver cancer. The liver is typically the first organ to be affected. Up to 95% of symptomatic (having symptoms) patients have liver involvement.
  
  
• Skin discoloration (from iron deposits in the skin) may be seen in hemochromatosis. The skin may have a bronze appearance. The skin is also involved very commonly in close to 90% of symptomatic patients.
  
  
• Diabetes mellitus may result because of hemochromatosis affecting the pancreas. This may be seen in more than half of the patients with hemochromatosis.
  
  
• Joint pain (arthralgia) and arthritis are also common (25%-50% of patients) in hemochromatosis.
  
  
• Hemochromatosis can sometimes involve the heart, causing heart failure or heart rhythm disturbances.
  
  
• Impotence (erectile dysfunction) can be seen in hemochromatosis due to testicular or pituitary involvement.
  
  
• Hypothyroidism may result because of hemochromatosis affecting the thyroid gland.

One of the possible late manifestations of hereditary hemochromatosis is referred to as "bronze diabetes". This condition occurs when the disease involves the skin (bronze appearance) and the pancreas (diabetes).

Many of these conditions are commonly seen in the general population and are not related to hereditary hemochromatosis. In addition, they may be present in varying degrees in individuals with hemochromatosis. Because of these factors, delay in making the diagnosis of hereditary hemochromatosis is not uncommon.

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