Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people.
Idiopathic hemochromatosis (iH) is typically a disease of older males. The case presented here describes a 26-yr-old woman with problems presenting heart failure, insulin-dependent diabetes, hepatomegaly, and secondary amenorrhea. The diagnosis was established by serum iron and transferrin saturation measurements, liver biopsy, and bone marrow examination for iron. Twenty grams of iron were removed by phlebotomy over 30 mo, and the patient's symptoms improved. A review of the literature pertinent to people with symptomatic onset of IH before age 30 yr revealed 52 young people in addition to this case. In contrast to IH patients older than 30, there was an almost equal ratio between the sexes, a greater frequency of cardiomyopathy and hypogonadism, and a lower frequency of diabetes mellitus and hepatic involvement. An autosomal recessive mode of inheritance appears to be most likely in this young group.
D000328:Adult; D000367:Age Factors; D001168:Arthritis / Q000209:etiology; D009202:Cardiomyopathies / Q000209:etiology; D048909:Diabetes Complications; D004702:Endocrine Glands / Q000503:physiopathology; D005260:Female; D005808:Genes, Recessive; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007006:Hypogonadism / Q000150:complications; D008099:Liver / Q000503:physiopathology; D008107:Liver Diseases / Q000209:etiology / Q000503:physiopathology; D008111:Liver Function Tests; D012877:Skin Manifestations