title: Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis.
abstract: Two unrelated individuals were referred to Lipid Clinics in The Netherlands and Chile with extreme xanthomatosis and hypercholesterolemia. Both were diagnosed with heterozygous familial hypercholesterolemia (heFH) after molecular genetic analysis of the low-density lipoprotein (LDL) receptor gene. Since heFH by itself could not account for the massive xanthomas, the presence of an additional hereditary lipid or lipoprotein disorder was suspected. Further genetic analysis revealed homozygozity for mutations in the sterol 27-hydroxylase gene, confirming the diagnosis of cerebrotendinous xanthomatosis (CTX). Markedly, the typical neurological manifestations of CTX were absent, suggestive of a protective role of LDL-receptor deficiency against the severe neurological consequences of CTX.
authors.affiliation: Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: R
authors.initials: R
authors.lastname: Huijgen
authors.forename: A D M
authors.initials: AD
authors.lastname: Stork
authors.forename: J C
authors.initials: JC
authors.lastname: Defesche
authors.forename: J
authors.initials: J
authors.lastname: Peter
authors.forename: R
authors.initials: R
authors.lastname: Alonso
authors.forename: A
authors.initials: A
authors.lastname: Cuevas
authors.forename: J J P
authors.initials: JJ
authors.lastname: Kastelein
authors.forename: M
authors.initials: M
authors.lastname: Duran
authors.forename: E S G
authors.initials: ES
authors.lastname: Stroes
mesh_terms: D000125:Achilles Tendon / Q000473:pathology; D000328:Adult; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D011973:Receptors, LDL / Q000235:genetics; D019294:Xanthomatosis, Cerebrotendinous / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D055815:Young Adult
chemical_list: D011973:Receptors, LDL; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase