A simple clinical score to promote and enhance ferroportin disease screening.
Fiche publication
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
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;: