Unravelling the Mysteries of Sitosterolemia: Insights from a Hematologist

Harshal Mamlekar*, Rajesh Kashyap, Sanjeev, Ruchi Gupta, Khaliqur Rahman, Mona V, Manish Singh, Dinesh Chandra and Poorvi Kapoor

Department of Hematology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India

^*Correspondance to: Harshal Mamlekar 

 PDF  Full Text Case Report | Open Access

Abstract:

Sitosterolemia is a disorder of lipid metabolism. It is extremely rare and is inherited in an autosomal recessive manner and is characterized by increased absorption of plant sterols from the intestinal mucosa resulting in extremely high levels within the blood. Here we present a case series of 2 patients of pediatric age group (<18 years) who presented to the outpatient department with clinical features suggestive of hemolytic anemia. Both patients did not report any stigmata of hypercholesterolemia. A thorough peripheral blood smear examination showed stomatocytes and macrothrombocytopenia in both these patients. Next generation sequencing showed a compound heterozygous mutation in ABCG5 gene (c.490C>T and c.1724G>A) in one case and homozygous mutations in ABCG5 gene (c.386C>A) in the other case. Both patients were initiated on Ezetimibe (10 mg/day) that resulted in complete resolution of symptoms. A low plant sterol diet and regular monitoring of hemoglobin and lipid profile was advised to both. Our cases highlight a rare differential diagnosis of Coombs negative hemolytic anemia that can be suspected from a thorough peripheral blood examination and confirmed by molecular genetic testing like NGS.

Keywords:

Sitosterolemia; Plant sterols; Stomatocytes; Macrothrombocytopenia; Hemolytic anemia

Cite the Article:

Mamlekar H, Kashyap R, Sanjeev, Gupta R, Rahman K, Mona V, et al. Unravelling the Mysteries of Sitosterolemia: Insights from a Hematologist. Clin Case Rep Int. 2025; 9: 1720..