title: The management of gastrointestinal disease in Hermansky-Pudlak syndrome.
abstract: Hermansky-Pudlak syndrome (HPS) was first described in 1959 by Hermansky and Pudlak. Clinically, HPS is characterized by oculocutaneous albinism, platelet storage pool deficiency, and ceroid tissue accumulation. It is a rare disorder that has been described globally but has the highest frequency in a cluster population in Puerto Rico. HPS patients also have major organ involvement that typically includes pulmonary fibrosis and granulomatous colitis. Rarely have cardiomyopathy and renal dysfunction been described. We report a case of the oldest historical patient with HPS type 6 and the associated gastrointestinal management.
authors.affiliation: †Yale-New Haven Hospital *Yale University School of Medicine, New Haven, CT 06510, USA.
authors.forename: Adrian J
authors.initials: AJ
authors.lastname: Mora
authors.forename: David M
authors.initials: DM
authors.lastname: Wolfsohn
mesh_terms: D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000627:therapeutic use; D001803:Blood Transfusion; D004760:Enterocolitis / Q000209:etiology / Q000628:therapy; D005765:Gastrointestinal Agents / Q000627:therapeutic use; D005767:Gastrointestinal Diseases / Q000175:diagnosis / Q000209:etiology / Q000628:therapy*; D006471:Gastrointestinal Hemorrhage / Q000209:etiology / Q000628:therapy; D022861:Hermanski-Pudlak Syndrome / Q000150:complications*; D006801:Humans; D008297:Male; D008875:Middle Aged; D019936:Probiotics / Q000627:therapeutic use; D013256:Steroids / Q000627:therapeutic use; D016896:Treatment Outcome
chemical_list: D000900:Anti-Bacterial Agents; D000894:Anti-Inflammatory Agents, Non-Steroidal; D005765:Gastrointestinal Agents; D013256:Steroids