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Identification of a homozygous variant in ABCG5 by panel sequencing in a Pakistani family with sitosterolemia: Genotype-phenotype correlation and management considerations.
J Clin Lipidol
October 2024
Department of Biological Sciences, National University of Medical Sciences, Rawalpindi 46000, Pakistan. Electronic address:
Sitosterolemia is a rare autosomal recessive disorder characterized by impaired excretion of plant sterols, leading to their accumulation in tissues and organs. We identified a hitherto unreported homozygous variant, in ATP-binding cassette sub-family G member 5 (ABCG5) (NM_022436.3) c.
View Article and Find Full Text PDFSitosterolemia Presenting as Thrombocytopenia and Anemia with Abdominal Pain.
Indian J Pediatr
January 2025
Department of Clinical Laboratory, South China Hospital, Medical School, Shenzhen University, Shenzhen, China.
Evaluation of plasma phytosterols in sitosterolemia, their kindreds and hyperlipidemia subjects.
J Clin Lipidol
September 2024
Division of Cardiology, Department of Internal Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China; Hubei Key Laboratory of Genetics and Molecular Mechanisms of Cardiological Disorders, Wuhan, 430000, China. Electronic address:
Background: Patients suffering from sitosterolemia with ABCG5/8 mutation typically present with early-onset or rapidly progressive atherosclerosis. Their kindreds with partial genetic deficiencies of ABCG5/8 are often considered healthy. However, discerning sitosterolemia from its familial kindreds and hyperlipidemia subjects has remained challenging.
View Article and Find Full Text PDFSitosterolemia is a rare autosomal recessively inherited lipid disorder characterized by an accumulation and deposition of phytosterols in various tissues with decreased biliary excretion leading to various complications. We report a case of a three-year-old Saudi girl who exhibited xanthomas and elevated cholesterol levels. Initially, she was misdiagnosed with familial hypercholesterolemia, but subsequent testing of the low-density lipoprotein receptor gene by next-generation sequencing ruled out this condition.
View Article and Find Full Text PDFCerebral involvement in sitosterolemia.
Lipids Health Dis
July 2024
Department of Neurology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Yong Wai Zheng Street 17#, Nanchang, 330006, Jiangxi, P.R. China.
Article Synopsis
- Sitosterolemia is a rare genetic condition leading to abnormal metabolism of plant sterols, resulting in symptoms like skin xanthomas and early heart disease, but brain damage related to the condition hasn't been well-studied.
- * Researchers examined a family with severe cases of sitosterolemia, where a 66-year-old female patient showed neurological issues including weakness and incontinence, along with brain imaging revealing abnormalities and cholesterol crystal deposits.
- * Findings suggest that cholesterol deposits in the brain's connective tissues are linked to increased plant sterol levels and two specific gene variants in the family, highlighting the need for more research into the neurological effects of sitosterolemia.*
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