Hemochromatosis causespathophysiologysigns and symptomsdiagnosis and treatment

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Hemochromatosis is the abnormal accumulation of iron in parenchymal organs, leading to organ toxicity. • It is the most common autosomal recessive genetic disorder and the most common cause of severe iron overload. • Signs and symptoms • Patients with hereditary hemochromatosis may be asymptomatic (75%) or may present with general and organ-related signs and symptoms. • Early symptoms include severe fatigue (74%), impotence (45%), and arthralgia (44%) • CLASSIFICATION • Hemochromatosis can be classified as • Hereditary Hemochromatosis • Hemochromatosis, HFE-related (type 1) • C282Y homozygosity • C282Y/H63D compound heterozygosity • Hemochromatosis, non-HFE-related • Juvenile hemochromatosis (type 2A) (hemojuvelin mutations) • Juvenile hemochromatosis (type 2B) (hepcidin mutation) • Mutated transferrin receptor 2, TFR2 (type 3) • Mutated ferroportin 1 gene, SLC11A3 (type 4) • Acquired • Iron Overload,Iron-loading anemias,Thalassemia major Sideroblastic anemia etc • Pathophysiology • Body-iron content is maintained at 3–4 g such that intestinal mucosal absorption of iron is equal to iron loss. This about 1 mg/d in men and 1.5 mg/d in menstruating women. • In hemochromatosis, mucosal absorption is greater than body requirements and amounts to 4 mg/d or more. • The progressive accumulation of iron increases plasma iron and transferrin saturation resulting in a progressive increase of plasma ferritin. • Since symptoms may be delayed until iron accumulation is excessive, hemochromatosis may not be recognized until total body iron is 10 g, or greater. • In women, features are uncommon before menopause because iron loss due to menses ,pregnancy and childbirth tends to offset iron accumulation. • Iron overload occurs due to increased iron absorption from the GI tract, leading to chronic deposition of iron in the tissues. • Hepcidin is a liver derived peptide which controls basolateral iron transport in the intestine and iron release from macrophages and other cells by binding to ferroportin. • Hepcidin, in turn, responds to signals in the liver mediated by HFE, TfR2, and hemojuvelin preventing excessive absorption and storage • Iron deposition in the pituitary causes hypogonadotropic hypogonadism in both men and women. • Tissue injury results from reactive free hydroxyl radicals generated when iron deposition in tissues catalyzes their formation and disruption of iron-laden lysosomes, from lipid peroxidation of subcellular organelles by excess iron.... • Show us your support by SUBSCRIBING,LIKING and SHARING. • Connect with us on our website www.medcrine.com • Follow us on twitter @medcrine • Telegram at https://t.me/medcrine

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