A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe.
- Sahoko Ono,
- Junko Matsuda,
- Aki Saito,
- Takenobu Yamamoto,
- Wataru Fujimoto,
- Hitomi Shimizu,
- Sumito Dateki,
- Kazunobu Ouchi
Clin Pediatr Endocrinol 2017 Jan 31;26(1):17-23. Epub 2017 Jan 31.
Department of Pediatrics, Kawasaki Medical School, Okayama, Japan.
Sitosterolemia is a rare, autosomal recessively inherited disorder of lipid metabolism caused by mutations in the "ATP-binding cassette, subfamily G" member 5 and 8 proteins (encoded by the ABCG5 and ABCG8 genes, respectively), which play critical roles in the intestinal and biliary excretion of plant sterols. We report the clinical features and treatment outcomes of an 18-month-old Japanese girl with sitosterolemia, who presented with multiple linear and intertriginous xanthomas around the joint areas. Serum lipid analyses revealed elevated levels of total cholesterol (T-Chol: 866 mg/dL), low density lipoprotein-cholesterol (LDL-C: 679 mg/dL), and plant sterols (sitosterol: 24. Read More