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Haemochromatosis, also spelled hemochromatosis (see spelling differences), also called hereditary haemochromatosis, siderophilia and bronze diabetes[1]:854 , is a hereditary disease characterized by excessive absorption of dietary iron resulting in a pathological increase in total body iron stores. Humans, like virtually all animals, have no means to excrete excess iron.[2] Excess iron accumulates in tissues and organs disrupting their normal function. The most susceptible organs include the liver, adrenal glands, the heart and the pancreas; patients can present with cirrhosis, adrenal insufficiency, heart failure or diabetes. [3] The hereditary form of the disease is most common among those of Northern European ancestry, in particular those of British or Irish descent.[4]
Haemochromatosis less often refers to the condition of iron overload as a consequence of multiple transfusions. More preferred terms in the United States include for transfusional iron overload or hemosiderosis used synonymously. Those with hereditary anemias such as beta-thalassemia major, sickle cell anemia, and Diamond-Blackfan anemia who require regular transfusions of red blood cells are all at risk for developing life-threatening iron overload. Older patients with various forms of bone marrow failure such as with myelodysplastic syndrome who become transfusion-dependent are also at risk for iron overload.
The disease was first described in 1865 by Armand Trousseau in a report on diabetes in patients presenting with a bronze pigmentation of their skin.[5] Trousseau did not associate diabetes with iron accumulation; the recognition that infiltration of the pancreas with iron might disrupt endocrine function resulting in diabetes was made by Friedrich Daniel von Recklinghausen in 1890.[6][7]
Haemochromatosis is protean in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems. Many of the signs and symptoms below are uncommon and for most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they suffer premature morbidity.[8] The more common clinical manifestations include:[3][9][10]
Less common findings including:
Males are usually diagnosed after their forties and fifties, and women several decades later, owing to regular iron loss through menstruation (which ceases in menopause). The severity of clinical disease in the hereditary form varies considerably. There is evidence suggesting that hereditary haemochromatosis patients affected with other liver ailments such as hepatitis or alcoholic liver disease suffer worse liver disease than those with either condition alone. There are also juvenile forms of hereditary haemochromatosis that present in childhood with the same consequences of iron overload.
The diagnosis of haemochromatosis is often made following the incidental finding on routine blood screening of elevated serum liver enzymes or excessive iron binding saturation of transferrin exceeding the normal value of 50%. Arthropathy with stiff joints, diabetes, or fatigue, may be the presenting complaint. The evaluation of abnormal transferrin saturation commonly involves determining the level of ferritin, a protein found in serum made by liver that binds iron. Serum ferritin in excess of 1000 nanograms per millilitre of blood is almost always attributable to haemochromatosis.[14]
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