Unmasking a case of sitosterolaemia: an approach for diagnosis and management
  • Mostafa Elbanna
    Department of Medicine, Unity Hospital, Rochester Regional Health, Rochester, USA
  • Fahad Eid
    Department of Medicine, Unity Hospital, Rochester Regional Health, Rochester, USA
  • Mostafa Zaalouk
    Department of Medicine, Unity Hospital, Rochester Regional Health, Rochester, USA
  • Ahmad Nawid Latifi
    Department of Cardiovascular Diseases, RGH, Rochester Regional Health, Rochester, USA
  • Gaurav Sharma
    Department of Cardiovascular Diseases, RGH, Rochester Regional Health, Rochester, USA

Keywords

Dyslipidaemia, sitosterolaemia, ezetimibe, evolocumab

Abstract

This report presents a 57-year-old female with a history of dyslipidaemia, intolerant to statins and currently managed on evolocumab. Despite a healthy lifestyle, lipid panel abnormalities persisted, leading to an investigation that revealed heterozygous mutations in the ABCG8 gene, confirming a diagnosis of sitosterolaemia. The patient’s unique response to lipid-lowering medications typified this rare disorder, necessitating specialised genetic testing for diagnosis. Management involved dietary modifications and the introduction of ezetimibe, evolocumab and atorvastatin, demonstrating the personalised nature of treatment. The case underscores the importance of considering sitosterolaemia in unexplained lipid abnormalities and highlights the challenges in diagnosis and management. Ongoing research is crucial for refining diagnostic and therapeutic strategies for this clinically significant disorder, emphasising the need for a multidisciplinary approach to patient care.

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    Published: 2024-05-31
    Issue: 2024: Vol 11 No 7 (view)


    How to cite:
    1.
    Elbanna M, Eid F, Zaalouk M, Latifi AN, Sharma G. Unmasking a case of sitosterolaemia: an approach for diagnosis and management. EJCRIM 2024;11 doi:10.12890/2024_004541.