Clinical practice guidelines on hemochromatosis were published August 1, 2022 by the European Association for the Study of the Liver (EASL) in the Journal of Hepatology.[1]
Those patients that should receive genetic testing for hemochromatosis include individuals with elevated serum ferritin and transferrin saturation, clinical and biochemical symptoms of hemochromatosis, or idiopathic persistently elevated transferrin saturation.
Patients who have increased hepatic iron on MRI or biopsy should receive biochemical testing and clinical assessment for hemochromatosis.
Adults with first-degree relatives diagnosed with hemochromatosis should receive genetic testing.
Evaluation of serum iron results should be the primary assessment for hemochromatosis. These results should include transferrin saturation and serum ferritin levels, although measuring hepcidin is not recommended.
Patients of European descent who exhibit evidence of iron overload (transferrin saturation >45% and serum ferritin >200 μg/L in females and transferrin saturation >50% and ferritin >300 μg/L in males, or transferrin saturation that is persistently elevated) should be genotyped for the p.C282Y variant in HFE, even if clinical signs of hemochromatosis are absent. Additionally, any adult first-degree relatives of individuals with evidence of p.C282Y homozygous hemochromatosis should receive testing for p.C282Y.
Genotype should not be the sole guiding factor in the management of patients with p.C282Y/p.H63D compound heterozygosity or p.H63D homozygosity. Rather, management should depend on phenotypic presentation and any additional risk factors. Additionally, individuals with confirmed iron overload who are compound heterozygous for p.C282Y/p.H63D or homozygous for p.H63D should be worked up for alternative causes of iron overload.
Assessment for liver fibrosis should be non-invasively performed at the time of diagnosis for all patients with hemochromatosis.
Iron deficiency should be avoided in all patients with hemochromatosis who are planning to become pregnant.
Phlebotomy management for hemochromatosis consists of an induction and maintenance phase. During the induction phase, phlebotomy should be undertaken weekly or every 2 weeks until depletion of iron stores. A serum ferritin of 50 μg/L is the target goal but no lower to avoid iron deficiency.
Dietary modifications and control should not take the place of iron removal therapy. Foods fortified with iron or high in iron should be avoided when possible, and iron supplementation should not be undertaken.
For more information, please see Hemochromatosis.
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Cite this: Hemochromatosis Clinical Practice Guidelines (EASL, 2022) - Medscape - Sep 06, 2022.
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