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The first manifestation of hereditary hemochromatosis usually appears as an elevated serum transferrin saturation percentage, long before clinical signs or symptoms develop. Men typically present with symptoms of hereditary hemochromatosis (e.g., fatigue, or skin bronzing) between the ages of 40 and 60, though the iron overload may have been detectable with a serum ferritin blood test by the age of 30. Women usually present with symptoms of hereditary hemochromatosis after menopause. The differences in age between men and women regarding the onset of signs and symptoms of hereditary hemochromatosis may be related to the fact that, in women, monthly blood loss during the normal menstrual cycle leads to a natural depletion of stored iron. Other factors that may influence the timing of clinical onset or increase the severity of hereditary hemochromatosis include alcohol consumption and the presence of other medical conditions such as infection.

A major factor contributing to the delayed diagnosis of hereditary hemochromatosis in many patients is that early signs and symptoms of the disease may be very subtle and nonspecific. These early signs and symptoms include:

• Generalized fatigue
• Joint pain
• Abdominal pain
• Weight loss
• Decreased sexual drive

As hereditary hemochromatosis progresses, additional symptoms may include shortness of breath, severe fatigue, chronic abdominal pain, and depression.

If not diagnosed and treated early, hereditary hemochromatosis can lead to complications involving vital organs including:

• Liver disease
• Heart disease
• Endocrine disorders
• Joint disease
• Skin disorders

Liver Disease

The liver is usually the first vital organ that is affected by hereditary hemochromatosis and can cause a variety of disorders, including:

• Hepatomegaly (enlargement of the liver) - This is the most frequent liver abnormality in patients with hereditary hemochromatosis
• Cirrhosis of the liver - This is the second most common liver complication observed in patients with hereditary hemochromatosis
• Hepatocellular carcinoma (primary liver cancer) - Patients with hereditary hemochromatosis who develop cirrhosis of the liver have a 5% annual risk for developing hepatocellular carcinoma.
• Abnormal liver function tests

Heart Disease

The heart is usually the second most common organ affected in patients with hereditary hemochromatosis. Cardiac complications of hereditary hemochromatosis may include:

• Arrhythmias - irregular heart beats
• Cardiac hypertrophy - increase in size of the heart muscle
• Congestive heart failure - failure of the heart to pump sufficient amount of blood to the rest of the body

Cardiac conditions occur in approximately 15% of patients with hereditary hemochromatosis with arrhythmias being the most common manifestation. Cardiomyopathies (conditions that affect the structure and function of the heart) and arrhythmias are the most common causes of sudden death in individuals with hereditary hemochromatosis. Cardiac abnormalities are not necessarily permanent and are typically treated independently of other symptoms of hereditary hemochromatosis.

Endocrine Disorders

• Diabetes mellitus - This is the most common endocrine disorder in patients with hereditary hemochromatosis. Diabetes may be caused either by decreased production of insulin due to the accumulation of iron in the pancreatic cells which regulate insulin production (beta cells) or by abnormal insulin sensitivity caused by excess iron. According to the U.S. Centers for Disease Control and Prevention, diabetes occurs in 25-75% of patients with hereditary hemochromatosis and is more likely to develop if the patient has a family history of diabetes.