hematology and oncology
Hereditary Hemochromatosis
Symptoms and Signs of Hereditary Hemochromatosis
The clinical consequences of iron overload tend to be similar regardless of the etiology and pathophysiology of the overload. Historically, experts believed that symptoms did not develop until significant organ damage had occurred. However, organ damage is slow and subtle, and fatigue and nonspecific systemic symptoms and signs often occur early. For example, liver dysfunction can manifest insidiously with fatigue, right upper quadrant abdominal pain, and hepatomegaly. Laboratory abnormalities of iron overload and hepatitis usually precede symptoms. ) hemochromatosis, symptoms relate to the organs with the largest iron deposits (see table Common Manifestations of Hereditary Hemochromatosis ). In men, the initial symptoms may be hypogonadism and Liver disease is the most common complication and may progress to Cirrhosis ; 20 to 30% of patients with cirrhosis develop Overview of Cardiomyopathies with heart failure is the 2nd most common fatal complication. Hyperpigmentation (bronze diabetes) and Intype 2disease, symptoms and signs include progressive hepatomegaly and hypogonadotropic hypogonadism. Intype 3disease, symptoms and signs are similar to type 1 hereditary (HFE) hemochromatosis. Type 4disease manifests in the first decade of life as increased serum ferritin levels with low or normal transferrin saturation; progressive saturation of transferrin occurs when patients are in their 20s and 30s. Clinical manifestations are milder than in type 1 disease, with modest liver disease and mild anemia. 