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Clinical Question: Does my patient have hemochromatosis?

Item Value
ID 12
Question Does my patient have hemochromatosis?
AlgorithmLink Click here for algorithm
AlgorithmDescription This algorithm is appropriate for adult patients with a family history of hemochromatosis, compatible clinical symptoms, unexplained liver disease, or type 2 diabetes with hepatomegaly
ICD10 E83.1, D46.1, M14.5
PubMedID 21452290, 11343262, 21452290


Tests associated with this clinical question:

Click on the test name for more information about the use of this test to answer this clinical question

ID Test Code Test Name Comment
61 IRON Ferritin Serum iron by itself has poor specificity in screening for hemochromatosis, and should be used in combination with serum ferritin and serum transferrin saturation. The serum iron has positive and negative predictive values for HH of 61% and 87%.
62 FERR Hemochromatosis, Hereditary In confirmed hereditary hemochromatosis, studies show that a serum ferritin level of >1000 lg/L had 100% sensitivity and 70% specificity for identification of cirrhosis. Thus ferritin may be an accurate predictor of the degree of hepatic fibrosis (cirrhosis).
63 FE Iron, Plasma / Serum The serum transferrin saturation has a sensitivity (94%), specificity (94%), and positive predictive value (6%) for the detection of the homozygous C282Y mutation.
64 HHEM Iron, Transferrin and % Transferrin Saturation Panel, Plasma / Serum In C282Y homozygous patients, AST levels above the upper limit of normal, together with a ferritin level of >1000 and a platelet count >200 x10^9 /L have been shown to lead to a correct diagnosis of cirrhosis in 77%-90% of patients. The 2011 Practice Guideline by the American Association for the Study of Liver Diseases recommends liver biopsy to stage the degree of liver disease in C282Y homozygotes or compound heterozygotes if liver enzymes (ALT, AST) are elevated or if ferritin is >1000 lg/L.


Clinical Algorithm:

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