Haemochromatosis
BioMG follows French guidelines. Adapt it to the guidelines and the tests available where you practise.
Stage 0 (no hyperferritinaemia and no raised transferrin saturation)
Laboratory tests (morning sample; fasting not necessary)
- Serum ferritin
- Transferrin saturation
Stage 1 (isolated raised transferrin saturation)
Laboratory tests (morning sample; fasting not necessary)
- Serum ferritin
- Transferrin saturation
Stage 2 (with hyperferritinaemia), 3 and 4 (clinical signs)
Fasting laboratory tests
- Serum ferritin
- Transferrin saturation
- Fasting plasma glucose
- Serum testosteroneif neededMen: look for gonadal involvement [1,2].
- AST
- ALT
- Hepatitis B serologyif needednon-French guidelineAn American family medicine review (2021) asks for associated liver diseases, including viral hepatitis, to be sought and for non-immune patients to be vaccinated [7]. The HAS cites hepatitis B and C among aggravating factors and mentions HBV vaccination, without including serology in its work-up or in the list of procedures for ALD 17 (long-term condition, France) [1,9].
- Hepatitis C serologyif needednon-French guidelineAn American family medicine review (2021) asks for associated liver diseases, including viral hepatitis, to be sought and for non-immune patients to be vaccinated [7]. The HAS cites hepatitis B and C among aggravating factors and mentions HBV vaccination, without including serology in its work-up or in the list of procedures for ALD 17 (long-term condition, France) [1,9].
- Alpha-fetoprotein (AFP) (if advanced fibrosis or cirrhosis, with ultrasound every 6 months)if neededScreening for hepatocellular carcinoma in advanced fibrosis or cirrhosis: alpha-fetoprotein accompanies six-monthly ultrasound in Australia [3]; it is optional for the EASL (weak recommendation) and the American review [6,7]. The 2005 HAS recommendation does not cite it and refers to the general recommendations on this screening [1]; the HAS ALD 17 guide (2024) lists it among the non-routine tests [9].
Do not order
- HbA1c to monitor diabetes in a patient who is regularly bled: unreliable, it underestimates true glycaemic control [1].
Tests during venesection (stage 2 to 4)
Laboratory tests
- FBC (within the 8 days before venesection)
- Serum ferritin (every 2 venesections)
Sources (10)
- Haute Autorité de santé. Prise en charge de l’hémochromatose liée au gène HFE (hémochromatose de type 1). Recommandations (consensus formalisé), juillet 2005.
- Haute Autorité de santé. Prise en charge de l’hémochromatose liée au gène HFE (hémochromatose de type 1). Synthèse des recommandations (consensus formalisé d’experts), juillet 2005.
- Gastroenterological Society of Australia (GESA). Clinical update for general practitioners and physicians: Haemochromatosis. Updated 2021.
- Goot K, Hazeldine S, Bentley P, Olynyk J, Crawford D. Elevated serum ferritin: what should GPs know? Aust Fam Physician. 2012;41(12):945-9.
- Royal Australian College of General Practitioners. Guidelines for preventive activities in general practice (Red Book), 10e édition : Genetics, genetic screening, recommandations du 28/06/2024.
- European Association for the Study of the Liver. EASL Clinical Practice Guidelines on haemochromatosis. J Hepatol. 2022;77(2):479-502.
- Kane SF, Roberts C, Paulus R. Hereditary Hemochromatosis: Rapid Evidence Review. Am Fam Physician. 2021;104(3):263-270.
- NHS Lothian. RefHelp : High ferritin (haematology referral guideline), version du 27 mars 2024.
- Haute Autorité de santé. ALD 17 : Hémochromatose liée au gène HFE (type 1). Actes et prestations affection de longue durée. Validé par le Collège le 17 octobre 2024.
- NHS Lothian. RefHelp : Haemochromatosis (gastrointestinal, liver and biliary referral guideline), version du 30 août 2023.