Management of HFE hereditary hemochromatosis (HH)

Management of HFE hereditary hemochromatosis (HH)

TSAT is nearly always increased in individuals with the HFE C282Y/C282Y genotype, but this does not necessarily indicate tissue iron overload. Analysis of tissue iron by MRI or biopsy is generally reserved for individuals with ferritin >1000 ng/mL, elevated transaminases, hepatomegaly, heart failure, arrythmias, or other findings suggesting hepatic or cardiac involvement. Hematology consultation is appropriate for patients requiring phlebotomy or for those with laboratory results that require further interpretation. Refer to UpToDate for details of HFE and non-HFE hemochromatosis and management of patients for whom genetic testing is not available.

HH: hereditary hemochromatosis; TSAT: transferrin saturation; HCC: hepatocellular cancer.

* Reasons to suspect HFE HH:

Positive family history of HFE HH or C282Y/C282Y genotype.
Ferritin above laboratory reference range (females: >200 ng/mL; males: >300 ng/mL) and TSAT >45%, without another explanation, with or without symptoms of iron overload. Refer to UpToDate for a discussion of HH diagnosis.

¶ Typically done monthly or with each phlebotomy; refer to UpToDate for details and other testing.

Δ Urgency and frequency of phlebotomy depend on the severity of iron overload, hemoglobin, and tolerability of the procedure. The target ferritin is individualized. Once the target ferritin is reached, maintenance phlebotomies are performed less frequently. Refer to UpToDate for details.

◊ Iron chelation or erythrocytapheresis may be used in selected individuals. Consultation with an expert in iron overload is advised.

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Management of HFE hereditary hemochromatosis (HH)