Patient-reported outcomes and their relation with iron parameters in HFE haemochromatosis during maintenance therapy: A prospective cohort study

Nicolas Belhomme (1, 2, 3, 4) , Jeff Morcet (1) , Alain Lescoat (1, 2, 3) , Francois Robin (1, 5) , Yves Deugnier (1) , Edouard Bardou-Jacquet (1) , Fabrice Lainé (1)

1 Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Ponchaillou]
2 EHESP - École des Hautes Études en Santé Publique [EHESP]
3 Irset - Institut de recherche en santé, environnement et travail
4 CIC - Centre d'Investigation Clinique [Rennes]
5 NuMeCan - Nutrition, Métabolismes et Cancer

Background and Aims The standard of care for haemochromatosis is regular phlebotomy in order to maintain low ferritin levels. Many patients report fatigue or joint pain despite serum ferritin within the therapeutic targets. We evaluated Patient-Reported Outcomes, and their relation with iron parameters, in C282Y homozygous patients undergoing maintenance phlebotomy. Methods Patients were prospectively enrolled in a French referral care centre. At each phlebotomy, patients completed a numeric fatigue scale, a joint pain questionnaire and SF-36 Mental Component Score (MCS) and Physical Component Score (PCS). Haemoglobin, iron, TS and ferritin were collected concomitantly. Results About 701 visits were performed in 259 patients. The median fatigue score was 3/10; 171 (66%) patients reported joint pain. Age and worsening of joint pain were associated with fatigue (p < .0001 for both). Female gender (p < .037), age (p < .003), and a decrease of TS (p = .050) were associated with joint pain. Main features associated with PCS <50 were worsening of joint pain and age (p < .001 for both) and TS <20% (p < .02). Conclusions Fatigue was independent from iron parameters. The main factor impacting quality of life was joint pain, which was more severe in patients with low TS values. Then, a more precise monitoring of TS should be proposed during haemochromatosis maintenance therapy; while less stringent monitoring of serum ferritin levels could be tested.

Mots clés: haemochromatosis; HFE; patient-reported outcomes; quality of life; transferrin saturation

Domaines: Sciences du Vivant [q-bio]

Nicolas Belhomme, Jeff Morcet, Alain Lescoat, Francois Robin, Yves Deugnier, et al.. Patient-reported outcomes and their relation with iron parameters in HFE haemochromatosis during maintenance therapy: A prospective cohort study. Liver International, 2022, 42 (11), pp.2473-2481. ⟨10.1111/liv.15341⟩. ⟨hal-03763292⟩