����Evaluate patients with abnormal iron studies as if they had
hemochromatosis, even in the absence of symptoms. (A)
����Evaluate all patients with evidence of liver disease for hemochromatosis.
(1B)
����Average risk population screening for HH is not recommended. (1B)
����In a patient with suggestive symptoms, physical findings, or family history,
obtain a combination of transferrin saturation (TS) and ferritin rather than
relying on a single test. If either is abnormal (TS ��� 45% or ferritin above
the upper limit of normal), then perform HFE mutation analysis. (1B)
����Diagnostic strategies using serum iron markers should target high-risk
groups such as those with a family history of HH or those with suspected
organ involvement. (1B)
����Screen (iron studies and HFE mutation analysis) first-degree relatives
of patients with HFE-related HH to detect early disease and prevent
complications. (1A)
����Perform 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 mcg/L. (1B)
����Perform liver biopsy for diagnosis and prognosis in patients with
phenotypic markers of iron overload who are not C282Y homozygotes or
compound heterozygotes. (2C)
����In patients with non���HFE-related HH, data on hepatic iron concentration
is useful, along with histopathologic iron staining, to determine the degree
and cellular distribution of iron loading present. (2C)
