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Late diagnosis of sitosterolemia in an adult case with unexplained hemolytic anemia.
Int J Lab Hematol
December 2024
Hematology Laboratory, ICO-IJC-Hospital Germans Trias i Pujol, UAB, Badalona, Spain.
Article Synopsis
- Sitosterolemia is a rare genetic disorder characterized by increased absorption of plant sterols in the intestines and reduced excretion through bile, due to mutations in the ABCG5 and ABCG8 genes.
- Key symptoms include skin lesions called xanthomas, early heart disease (premature atherosclerosis), joint pain (arthralgia), and blood-related issues.
- The text emphasizes the need for a multidisciplinary approach to diagnose and treat this condition early, as hematological changes can be the only noticeable sign of the disease.
Connecting the dots: Xanthoma, haemolytic anaemia, stomatocytosis and macrothrombocytopenia point to phytosterolaemia.
EJHaem
November 2023
Department of Internal Medicine University Hospital of Toulouse, Cancer University Institute of Toulouse Oncopole Toulouse France.
A teenager boy with a novel variant of Sitosterolemia presented with pancytopenia.
Clin Chim Acta
April 2022
Division of Pediatric Hematology and Oncology, Department of Pediatrics, KANKA Pediatric Hematology Oncology & HSCT Hospital, Erciyes University, Faculty of Medicine, Kayseri, Turkey; Department of Molecular Biology and Genetics, Gevher Nesibe Genom and Stem Cell Institution, Genome and Stem Cell Center (GENKOK), Erciyes University, Kayseri, Turkey; Department of Blood Banking and Transfusion Medicine, Health Science Institution, Erciyes University, Kayseri, Turkey. Electronic address:
Article Synopsis
- Sitosterolemia is a condition characterized by high levels of plant sterols due to increased absorption and reduced excretion, causing symptoms like xanthomas, anemia, and thrombocytopenia.
- A 10-year-old boy with pancytopenia and macrothrombocytopenia was studied, revealing a new genetic variant related to the ABCG5 gene, which is linked to Sitosterolemia.
- Treatment with a restricted diet and ezetimibe significantly lowered the patient's plant sterol levels, highlighting the importance of considering Sitosterolemia in children with subtle hematological signs.
Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients.
J Clin Lipidol
March 2022
Department of Food Engineering, Ankara University, Faculty of Engineering, Ankara, Turkey.
Background: Sitosterolemia is a rare lipid disorder caused by mutations in adenosine triphosphate-binding cassette genes (ABCG) 5 and 8.
Objective: To evaluate the phenotypic/genotypic features of sitosterolemia in a group of Turkish patients.
Methods: Seven probands with unexplained hematologic abnormalities and their 13 relatives were enrolled.
Macrothrombocytopenia and stomatocytosis in sitosterolaemia.
Br J Haematol
September 2021
Laboratory of Hematology LHUB-ULB ULB, Université Libre de Bruxelles, Brussels, Belgium.
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