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Uptodate Reference Title
Algorithm for diagnosing hereditary hemochromatosis (HH)
Algorithm for diagnosing hereditary hemochromatosis (HH)
The diagnosis of HH is confirmed in an individual with iron overload and biallelic HFE mutations. The need for phlebotomy depends on the presence of tissue iron deposition and the ferritin level (typically appropriate for ferritin >500 ng/mL [>1124 pmol/L]). Other testing may be indicated in certain cases (eg, screening for hepatocellular cancer in people with cirrhosis). Refer to UpToDate for details.
The diagnosis is excluded in an individual who lacks iron overload and does not have HFE mutations.
For individuals with iron overload who lack HFE mutations or individuals with HFE mutations who lack iron overload, additional evaluations (testing for other causes, serial monitoring) may be indicated.
Hematology consultation is appropriate for patients requiring phlebotomy or for those with laboratory results that require further interpretation.
HH: hereditary hemochromatosis; TSAT: transferrin saturation; BMI: body mass index. * An individual may be suspected of having HH based on signs or symptoms of iron overload and/or a positive family history of HH. Signs and symptoms of HH include the following:
Unexplained liver disease
Unexplained fatigue
Unexplained heart failure or arrhythmia
Unexplained arthropathy
High serum ferritin or TSAT
Porphyria cutanea tarda (PCT)
Unexplained hypogonadism or low libido
Type 2 diabetes mellitus with atypical presentation (eg, younger age than average or low BMI)
¶ Some results may not be available.
Iron studies are appropriate in individuals with the signs and symptoms listed above, and in those with any mutation in HFE or other HH-associated gene. Iron studies may be repeated in those with initial results that are borderline or discordant (eg, high ferritin with low TSAT).
HFE mutation testing is appropriate in individuals with a positive family history of HH or those with iron studies that indicate iron overload.
Δ Refer to UpToDate for further evaluation to distinguish among the possible diagnoses.
