Familial Hemochromatosis: Characteristics Of The Pre-cirrhotic Stage In A Large Kindred

摘要: Ffty asymptomatic members of a kindred with familial hemochromatosis were studied in an effort to clarify some the physiologic abnormalities present pre-cirrhotic or latent stage disease. Using excess hepatic iron as marker for inheritance hemochromatosis, results liver biopsies on 31 family suggest auto-somal dominant mode incomplete expressivity. In addition relationship between alcohol intake and iron, there was strong association level presence fibrosis those subjects stores. Both serum transferrin saturation significantly higher overload than who not affected. Only correlated severity deposition. Studies glucose tolerance (OGTT, IVITT, clamp studies) demonstrated defect carbohydrate metabolism associated deficient insulin secretion resistance, both which related degree depostion. this we have found no evidence contribution intolerance hemochromatosis. Iron activity collagen proline hydroxylase urinary excretion peptide-bound hydroxyproline. Serum ferritin, previously thought be reliable reticuloendothelial stores, normal 19 20 overload.