A simple clinical score to promote and enhance ferroportin disease screening.

Date publication

novembre 2021

Journal

Journal of hepatology

Auteurs

Membres identifiés du Cancéropôle Est :
Dr DRENOU Bernard

Tous les auteurs :
Landemaine A, Hamdi-Roze H, Cunat S, Loustaud-Ratti V, Causse X, Si Ahmed SN, Drenou B, Bureau C, Pelletier G, De Kerguenec C, Ganne-Carrie N, Durupt S, Laine F, Loréal O, Ropert M, Detivaud L, Morcet J, Aguilar-Martinez P, Deugnier YM, Bardou-Jacquet E

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/34748893

Résumé

Ferroportin disease (FD) is a rare genetic iron overload disorder with usually normal transferrin saturation (TSat). Similarities with secondary iron overload in the setting of metabolic syndrome favors overlooked diagnosis. Recent data suggest higher prevalence than suspected. The lack of definite criteria prompting genetic testing and costs precludes large scale molecular screening. Our aim was to coin a readily available scoring system to promote and enhance FD screening.

Mots clés

Ferroportin, diagnostic score, genetic testing, iron overload

Référence

J Hepatol. 2021 Nov 5;: