Unmasking a Case of Sitosterolaemia: An Approach for Diagnosis and Management.

Unlabelled: 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 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.