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Concept
Iron overload
Summary
Iron overload or haemochromatosis (also spelled hemochromatosis in American English) indicates increased total accumulation of iron in the body from any cause and resulting organ damage. The most important causes are hereditary haemochromatosis (HH or HHC), a genetic disorder, and transfusional iron overload, which can result from repeated blood transfusions.
Organs most commonly affected by hemochromatosis include the liver, heart, and endocrine glands.
Hemochromatosis may present with the following clinical syndromes:
liver: chronic liver disease and cirrhosis of the liver.
heart: heart failure, cardiac arrhythmia.
hormones: diabetes (see below) and hypogonadism (insufficiency of the sex hormone producing glands) which leads to low sex drive and/or loss of fertility in men and loss of fertility and menstrual cycle in women.
metabolism: diabetes in people with iron overload occurs as a result of selective iron deposition in islet beta cells in the pancreas leading to functional failure and cell death.
skeletal: arthritis, from iron deposition in joints leading to joint pains. The most commonly affected joints are those of the hands, particularly the knuckles or metacarpophalangeal joints, wrists or radiocarpal joints, elbow, hip, knee and ankle joints. Risk factors for the development of arthritis in those with hemochromatosis include elevated iron levels (ferritin greater than 1000 or transferrin saturation greater than 50%) for an extended period of time, increasing age and concurrent advanced liver fibrosis.
skin: melanoderma (darkening or 'bronzing' of the skin).
Hemochromatosis leading to secondary diabetes (through iron deposition in the insulin secreting beta cells of the pancreas), when combined with a bronzing or darkening of the skin, is sometimes known as "bronze diabetes".
The term hemochromatosis was initially used to refer to what is now more specifically called hemochromatosis type 1 (or HFE-related hereditary hemochromatosis).
Official source
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