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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.
AuthorsR Huijgen, A D M Stork, J C Defesche, J Peter, R Alonso, A Cuevas, J J P Kastelein, M Duran, E S G Stroes
JournalClinical genetics (Clin Genet) Vol. 81 Issue 1 Pg. 24-8 (Jan 2012) ISSN: 1399-0004 [Electronic] Denmark
PMID21955034 (Publication Type: Case Reports, Journal Article)
Copyright© 2011 John Wiley & Sons A/S.
Chemical References
  • Receptors, LDL
  • CYP27A1 protein, human
  • Cholestanetriol 26-Monooxygenase
Topics
  • Achilles Tendon (pathology)
  • Adult
  • Cholestanetriol 26-Monooxygenase (genetics)
  • Genetic Testing
  • Humans
  • Hyperlipoproteinemia Type II (complications, diagnosis, genetics, pathology)
  • Male
  • Mutation
  • Receptors, LDL (genetics)
  • Xanthomatosis, Cerebrotendinous (complications, diagnosis, genetics, pathology)
  • Young Adult

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