Navneet Mishra: Sitosterolemia as an Under-Recognised Cause of Cytopenias
Navneet Mishra, Clinical Assistant, Department of Clinical Hematology and BMT at Sir Gangaram Hospital, shared a post on LinkedIn about a recent article he and his colleagues co-authored, published in Blood Research, adding:
“Sitosterolemia: An Under-recognised Cause of Cytopenias
Pleased to share our recently published work in Blood Research (2026) from Sir Ganga Ram Hospital, New Delhi.
We studied six patients presenting directly to the Hematology OPD between January 2024 and June 2026, all with unexplained cytopenias.
After exclusion of common causes, clinical exome sequencing revealed ABCG5/ABCG8 variants, leading to the diagnosis of sitosterolemia.
These patients had often been wandering from hospital to hospital and doctor to doctor, receiving treatment for conditions such as ITP, nutritional anemia and Evans syndrome.
The diagnostic delay ranged from 2-9 years, with some patients requiring multiple blood transfusions.
Sitosterolemia results from accumulation of plant sterols and is classically associated with xanthomas and premature coronary artery disease.
Stomatocytes and giant platelets on peripheral smear can provide an important clue.
The encouraging part: treatment is simple – phytosterol restriction and ezetimibe can improve hematological abnormalities.
Recognise the smear.
Think beyond common diagnoses.”
Title: Sitosterolemia presenting as unexplained cytopenias: hematologic manifestations and genetic spectrum
Authors: Navneet Mishra, Nitin Gupta, Naman Bansal, Meena Verma, Jyoti Kotwal
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