Hemochromatosis is a defect in metabolism of –
Correct Answer: Iron
Description: Ans. is 'a' i.e., Iron o Hemochromatosis is characterized by the excessive accumulation of body iron, most of which is deposited in parenchymal organs such as the liver and pancreas.Hemochromatosiso Hemochromatosis is characterized by the excessive accumulation of body iron, most of which is deposited in parenchymal organs such as liver and pancreas.o The total body content of the iron is tightly regulated, as the daily losses are matched by gastrointestinal absorption. In hereditary hemochromatosis, regulation of intestinal absorption of dietary iron is lost, leading to net iron accumulation of 0.5 to 1.0 gm year.o It may be recalled that the total body iron pool ranges from 2-6 gm in normal adults; about 0.5 gm is stored in the liver 98% of which is hepatocytes. In hemochromatosis the iron accumulation may exceed 50 gm, over one third of which accumulates in the liver.o The iron accumulation is life long, the rate of net iron accumulation is 0.5 to 1.0 gm/year. The disease manifests itself typically after 20 gm of storage iron have accumulated. The disease first mainfests itself in the fifth to sixth decades of life.o Excessive iron is directly toxic to host tissueso The clinical features of hemochromatosis are characterized principally by deposition of excess iron in the following organs in decreasing order of severity.Liver (95%)o Usually the first organ to be affected,o Hepatomegaly seen in most of the cases,o Micronodular cirrhosis is characteristico Hepatocellular carcinoma develops in 30% patientsSkin (90%)o Excessive skin pigmentation (Bronzing of the skin)o Skin pigmentation results partially due to hemosiderin deposition and mainly due to melanin depositiono Usually diffuse or generalized, but more pronounced on the face, neck and extensor aspects of lower forearmsPancreas (65%)o Leads to diabetes mellitusJoints (25-50%)o Arthropathyo PolyarthritisCardiaco Congestive heart failureo Anyhthmiao Cardiomyopathy (Restrictive)Hypogonadismo These changes are primarily the result of decreased production of gonadotropins due to impairment of hypothalamic-pituitary' function by iron deposition however, primary' testicular dysfunction may be seen in some cases
Category:
Pathology
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