· Journal of hepatology 2022 · clinical practice guideline · n=?

EASL Clinical Practice Guidelines on haemochromatosis.

Cited 201 times in the scientific literature.

Level 5 - mechanism / opinion, no new human data

Clinical practice guideline and expert consensus without reported primary trial data or systematic meta-analysis in the abstract

PubMed 35662478 · doi:10.1016/j.jhep.2022.03.033 · record verified 2026-08-29

What was done

The European Association for the Study of the Liver (EASL) established clinical practice guidelines defining diagnostic criteria, staging approaches, and phlebotomy treatment targets for haemochromatosis.

What was found

The abstract details recommended diagnostic cutoffs and therapeutic targets rather than primary numerical trial data: - In HFE p.Cys282Tyr homozygotes: Transferrin saturation (TSAT) >45% and ferritin >200 μg/L for females; TSAT >50% and ferritin >300 μg/L for males and postmenopausal females define provisional iron overload sufficient for diagnosis. - In non-p.Cys282Tyr genotypes: Diagnosis requires demonstration of hepatic iron overload by MRI or liver biopsy alongside elevated TSAT and ferritin. - Treatment targets: Serum ferritin <50 μg/L during the induction phase of phlebotomy and <100 μg/L during the maintenance phase. - Advanced liver fibrosis requires inclusion in a surveillance programme for hepatocellular carcinoma.

Why it matters

This guideline standardizes diagnostic laboratory thresholds based on sex and genotype and clarifies phlebotomy endpoints to prevent progression to cirrhosis and hepatocellular carcinoma.

Limits

The abstract does not provide the literature search strategy, systematic review methodology, grading metrics for specific recommendations, or primary outcome statistics supporting the selected cutoff values.

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