Sahiner, NerimanKocak, MukadderDemirceken, FulyaKisa, UclerAyva, SebnemKazkayasi, Mustafa2020-06-252020-06-252014closedAccess1328-80671442-200Xhttps://doi.org/10.1111/ped.12306https://hdl.handle.net/20.500.12587/5727KISA, Ucler/0000-0002-8131-6810In 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.eninfo:eu-repo/semantics/closedAccesschildrengastrointestinal tracthigh-density lipoproteinlipid metabolismTangier diseaseArticle56577777910.1111/ped.123062-s2.0-8493923189925335997Q3WOS:000344243200030Q4