Familial Hypercholesterolemia Combined With Sitosterolemia.

BACKGROUND

Hyperlipidemia is a heterogeneous disorder with genetic and acquired causes, and severe forms may cause vascular calcification and stenosis. Familial hypercholesterolemia (FH) and sitosterolemia are distinct inherited lipid diseases, yet their co-occurrence has not been previously reported.

CASE SUMMARY: A patient with combined FH and sitosterolemia was identified via genetic testing. Single hypolipidemic therapies failed, whereas combined treatment targeting both disorders achieved significant lipid reduction.

DISCUSSION: This is to our knowledge the first reported case of concurrent FH and sitosterolemia, expanding the spectrum of inherited hyperlipidemia and highlighting the value of targeted therapy for dual lipid metabolic disorders.

TAKE-HOME MESSAGE: Genetic testing is indispensable for patients with refractory hyperlipidemia to guide precise combined hypolipidemic treatment.