[Diagnosis and treatment of primary hemochromatosis].
Chronic fatigue, arthralgia, infertility, impotence, cardiac disease, diabetes and abnormality of liver enzymes could point to the presence of haemochromatosis. A patient with one of these symptoms, a normal haemoglobin content, but an increased transferrin saturation and serum ferritin level most probably has a primary haemochromatosis. Most primary haemochromatoses have a genetic background. The diagnosis 'HFE-related haemochromatosis' is made when a homozygous Cys282Tyr mutation is found in the HFE-gene. However, in approximately 10% of the patients with the clinical features of primary haemochromatosis this mutation is absent. The treatment of primary haemochromatosis consists of regular phlebotomy. Liver biopsy is indicated if fibrosis, cirrhosis or another hepatic disease is suspected. Family screening of first-grade relatives is indicated for all patients with primary haemochromatosis.
Swinkels
D W
DW
Academisch Ziekenhuis, Centraal Klinisch Chemisch Laboratorium, Nijmegen.
Marx
J J
JJ
D003545:Cysteine / Q000235:genetics; D005260:Female; D005293:Ferritins / Q000097:blood*; D005820:Genetic Testing; D006432:Hemochromatosis / Q000097:blood / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006720:Homozygote; D006801:Humans; D008107:Liver Diseases / Q000175:diagnosis; D008111:Liver Function Tests; D008297:Male; D009154:Mutation; D018962:Phlebotomy; D014168:Transferrin / Q000378:metabolism*; D014443:Tyrosine / Q000235:genetics
D014168:Transferrin; D014443:Tyrosine; D005293:Ferritins; D003545:Cysteine
Diagnostiek en behandeling van primaire hemochromatose.