title: Interleukin 6 blockade for hyperimmunoglobulin D and periodic fever syndrome.
abstract: Hyperimmunoglobulin D and periodic fever syndrome (HIDS) is a rare, autoinflammatory condition caused by mutations in the mevalonate kinase gene. There is no standard treatment for HIDS, and randomized controlled trials are lacking. Corticosteroids, colchicine, nonsteroidal anti-inflammatory drugs, statins, and cyclosporine are of limited efficacy in controlling this condition. Recent case reports suggest that most patients respond to etanercept or anakinra. Interleukin 6 blockade in HIDS has not been described. We report the case of a 13-year-old girl with HIDS, who failed to respond to colchicine, corticosteroids, etanercept, and anakinra but was successfully treated with the anti-IL-6 monoclonal antibody, tocilizumab.
authors.affiliation: From the Royal Victoria Hospital, Belfast, United Kingdom.
authors.forename: Hiba M
authors.initials: HM
authors.lastname: Shendi
authors.forename: Lisa A
authors.initials: LA
authors.lastname: Devlin
authors.forename: John David
authors.initials: JD
authors.lastname: Edgar
mesh_terms: D000293:Adolescent; D061067:Antibodies, Monoclonal, Humanized / Q000276:immunology / Q000627:therapeutic use*; D003078:Colchicine / Q000627:therapeutic use; D000068800:Etanercept; D005260:Female; D006801:Humans; D007074:Immunoglobulin G / Q000627:therapeutic use; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use; D015850:Interleukin-6 / Q000276:immunology; D054078:Mevalonate Kinase Deficiency / Q000188:drug therapy*; D018124:Receptors, Tumor Necrosis Factor / Q000627:therapeutic use; D017211:Treatment Failure; D016896:Treatment Outcome; D000093242:Interleukin-6 Inhibitors
chemical_list: D061067:Antibodies, Monoclonal, Humanized; D003078:Colchicine; D000068800:Etanercept; D007074:Immunoglobulin G; D053590:Interleukin 1 Receptor Antagonist Protein; D015850:Interleukin-6; D018124:Receptors, Tumor Necrosis Factor; D000093242:Interleukin-6 Inhibitors; C502936:tocilizumab