A patient presents with Ahritis, hyperpigmentation of skin and hypogonadism, likely diagnosis is?
Correct Answer: Hemochromatosis
Description: Answer is A (Hemochromatosis): The association of Ahritis, hyperpigmentation of skin and hypogonadism suggests the diagnosis of hematochromatosis. Hematochromatosis (Disorder of iron storage) Inappropriate increase in intestinal absorption results in deposition of excessive amounts of iron in parenchymal cells with eventual tissue damage and impaired fitnction of organs Serum iron led % Transferrin saturation Ted Serum ferritin iced Elevation in percent Transferrin saturation is the earliest phenotypic marker of. herditaty hemochmmatosisdeg Treatment of Haematochromatosis Therapy of Haematochromatosis involves removal of excessive body iron and suppoive treatment of damaged organs Removal of Excessive Body iron Phlebotomy is the treatment of choice - Iron removal is best accomplished by once or twice weekly phlebotomy of 500m1, - These should be continued until the serum ferritin level is < 50p.g/L (May be required for 1-2 years) - Thereafter phlebotomies are performed at appropriate intervals to maintain ferritin levels between 50-10011e/1. (usually one phlebotomy every 3 months) Chelating agents (such as Desferoxamine) are alternative agents and indicated when anemia and hypoproteinernia are severe enough to preclude phlebotomy Alcohol consumption should be eleminatedt as it increases the risk of cirrhosis in hematochromatosis nearly ten fold. The charachteristic clinical features of Haemochromatosis in order of frequency area : Hepatomegaly (95%) Skin pigmentation (90%) Diabetes mellitus (65%) Ahropathy (25-50%) Cardiac disease (15%) Hypogonadism
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