ÎÎEvaluate patients with abnormal iron studies as if they had
hemochromatosis, even in the absence of symptoms. (A)
ÎÎEvaluate all patients with evidence of liver disease for hemochromatosis.
(1B)
ÎÎAverage risk population screening for HH is not recommended. (1B)
ÎÎIn 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)
ÎÎDiagnostic 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)
ÎÎScreen (iron studies and HFE mutation analysis) first-degree relatives
of patients with HFE-related HH to detect early disease and prevent
complications. (1A)
ÎÎPerform 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)
ÎÎPerform liver biopsy for diagnosis and prognosis in patients with
phenotypic markers of iron overload who are not C282Y homozygotes or
compound heterozygotes. (2C)
ÎÎIn 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)
