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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.
Two Cases of Sitosterolemia Falsely Diagnosed as Familial Hypercholesterolemia: Could Digging Deeper Have Avoided Harm?
JCEM Case Rep
May 2024
Genetic Dyslipidemias Clinic of the Montreal Clinical Research Institute, Montréal, Québec H2W 1R7, Canada.
Sitosterolemia is a rare monogenic lipid disease characterized by the excessive uptake of phytosterols and their accumulation in blood and tissues. Clinically, it can present with hypercholesterolemia and xanthomas, often causing it to be misdiagnosed as familial hypercholesterolemia (FH). The diagnosis of sitosterolemia can easily be confirmed and distinguished from FH with a sterol profile and genetic investigations.
View Article and Find Full Text PDFConnecting 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.
Genetic analysis and functional study of a novel ABCG5 mutation in sitosterolemia with hematologic disease.
Gene
August 2023
Department of Endocrinology and Metabolism, The First Affiliated Hospital of Nanjing Medical University and Jiangsu Province Hospital, Nanjing, China. Electronic address:
Sitosterolemia is a rare autosomal recessive hereditary disease caused by loss-of-function genetic mutations in either ATP-binding cassette subfamily G member 5 or member 8 (ABCG5 or ABCG8). Here, we investigate novel variants in ABCG5 and ABCG8 that are associated with the sitosterolemia phenotype. We describe a 32-year-old woman with hypercholesterolemia, tendon and hip xanthomas, autoimmune hemolytic anemia and macrothrombocytopenia from early life, which make us highly suspicious of the possibility of sitosterolemia.
View Article and Find Full Text PDFA 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.
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