A teenager boy with a novel variant of Sitosterolemia presented with pancytopenia.

Gok, VEYSEL; Tada, Hayato; Ensar Dogan, Muhammet; ALAKUŞ SARI, ÜMMÜ; ASLAN, KÜBRA; ÖZCAN, ALPER; YILMAZ, EBRU; KARDAŞ, FATİH; KARAKÜKCÜ, MUSA; CANATAN, HALİT; Karakukcu, ÇİĞDEM; Dundar, MUNİS; Inazu, Akihiro; Unal, EKREM

doi:10.1016/j.cca.2022.02.001

A teenager boy with a novel variant of Sitosterolemia presented with pancytopenia.

Copy For Citation

Gok V., Tada H., Ensar Dogan M., ALAKUŞ SARI Ü., ASLAN K., ÖZCAN A., ...More

Clinica chimica acta; international journal of clinical chemistry, vol.529, pp.61-66, 2022 (SCI-Expanded)

Publication Type: Article / Article
Volume: 529
Publication Date: 2022
Doi Number: 10.1016/j.cca.2022.02.001
Journal Name: Clinica chimica acta; international journal of clinical chemistry
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, Chemical Abstracts Core, Chimica, EMBASE, MEDLINE, Veterinary Science Database
Page Numbers: pp.61-66
Keywords: Plant sterol, Sitosterolemia, Macrothrombocytopenia, Stomatocytosis, Ezetimibe
Erciyes University Affiliated: Yes

Abstract

Background: Sitostemlemia, also known as phytosterolemia, results from increased intestinal absorption of plant sterols and decreased intestinal and biliary excretion of sterols, resulting in increased levels of plant sterols in the plasma. The most common symptoms include xanthomas, premature atherosclerosis, hemolytic anemia and macrothrombocytopenia, however delayed diagnosis or misdiagnosis also occur.