Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report

Area of Science:

• Genetics
• Metabolic Disorders
• Pharmacology

Background:

• Sitosterolemia is a rare autosomal recessive genetic disorder.
• It is characterized by hypercholesterolemia and xanthomas.
• Pathogenic mutations in ABCG5 or ABCG8 genes are the primary cause.

Purpose of the Study:

• To report the clinical features and therapeutic outcomes of a patient with sitosterolemia.
• To expand the understanding of the ABCG5 gene's mutational spectrum.
• To provide insights into the diagnosis and management of sitosterolemia.

Main Methods:

• A 29-year-old Chinese male patient diagnosed with sitosterolemia was studied.
• Genetic sequencing identified compound heterozygous mutations in the ABCG5 gene (c.1256G>A and c.751C>T).
• Treatment involved a low-plant-sterol/cholesterol diet and ezetimibe after statin therapy failure.

Main Results:

• The patient presented with childhood xanthomas and adult hypercholesterolemia.
• Lipoprotein profiling confirmed elevated plant sterols.
• Serum total cholesterol and LDL cholesterol normalized within 2 months of dietary and ezetimibe intervention.

Conclusions:

• This case expands the known mutations associated with sitosterolemia.
• The findings highlight the efficacy of dietary changes and ezetimibe in managing sitosterolemia.
• This case offers valuable clinical management insights for this rare disorder.