title: Tangier disease in a Turkish family.
abstract: In this report we describe the upper gastrointestinal tractus involvement in a rare genetic disease of lipid metabolism. A 12-year-old boy presented with sore throat and fever. On physical examination, orange-yellow tonsils and adenoid tissue were noted. Mild hepatosplenomegaly was present. Lipid profile was compatible with Tangier disease (TD). Endoscopy of the upper gastrointestinal tract showed white-yellowish fatty deposits on the gastric mucosa. Microscopically, biopsy specimens contained numerous histiocytes with a foamy cytoplasm packed in the lamina propria of the gastric mucosa and at the crypt basement of the duodenum. His sister, 8 years old, was also diagnosed with TD based on abnormal lipid profile and orange-yellow tonsils. TD is a rare familial disorder of lipid metabolism, characterized by deposition of cholesteryl esters, probably involving the entirety of the gastrointestinal tract from the mouth to the anus.
authors.affiliation: Department of Dermatology, Kırıkkale University Faculty of Medicine, Kirikkale, Turkey.
authors.forename: Neriman
authors.initials: N
authors.lastname: Sahiner
authors.forename: Mukadder
authors.initials: M
authors.lastname: Kocak
authors.forename: Fulya
authors.initials: F
authors.lastname: Demirceken
authors.forename: Ucler
authors.initials: U
authors.lastname: Kisa
authors.forename: Sebnem
authors.initials: S
authors.lastname: Ayva
authors.forename: Mustafa
authors.initials: M
authors.lastname: Kazkayasi
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D013631:Tangier Disease / Q000175:diagnosis / Q000235:genetics*; D014421:Turkey
keywords: Tangier disease; children; gastrointestinal tract; high-density lipoprotein; lipid metabolism