title: Severe hypercholesterolemia and liver disease in a 3-year old.
abstract: Lipoprotein-X, which is composed of phospholipids and non-esterified cholesterol, is an abnormal lipoprotein with a density range similar to LDL-C. The two most common ways which lipoprotein-X accumulates is from reflux of bile salts into plasma or deficiency in lecithin cholesterol acyltransferase. This is a case of severe hypercholesterolemia and liver disease in a 3- year old male that presented with pruritus, pale stool, scleral ictus, and abdominal distention. He was diagnosed with primary sclerosing cholangitis which was confirmed by liver biopsy. Our patient was treated with steroids and immunomodulator therapy which was associated with significant reduction in cholestasis and LDL-C levels. Lipoprotein-X has several properties that make it anti-atherogenic, which raises the question if treatment for hypercholesterolemia should be initiated.
authors.affiliation: UNT Health Science Center, Texas College of Osteopathic Medicine, Fort Worth, TX.
authors.forename: Amol M
authors.initials: AM
authors.lastname: Patel
authors.affiliation: Pediatric Endocrinology and Diabetes, Cook Children's Medical Center, Fort Worth, TX; Department of Genetics, Cook Children's Medical Center, Fort Worth, TX. Electronic address: ariel.brautbar@cookchildrens.org.
authors.forename: Ariel
authors.initials: A
authors.lastname: Brautbar
authors.affiliation: Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Boston Children's Hospital, Boston, MA.
authors.forename: Nirav K
authors.initials: NK
authors.lastname: Desai
authors.affiliation: Pediatric Endocrinology and Diabetes, Cook Children's Medical Center, Fort Worth, TX.
authors.forename: Don P
authors.initials: DP
authors.lastname: Wilson
mesh_terms: D002675:Child, Preschool; D006801:Humans; D006937:Hypercholesterolemia / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology / Q000628:therapy; D008107:Liver Diseases / Q000150:complications*; D008297:Male
keywords: Hypercholesterolemia; Lipoprotein x; Primary sclerosing cholangitis; Type 1 hyperlipoproteinemia; Xanthomas