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Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis
Author(s) -
Huijgen R,
Stork ADM,
Defesche JC,
Peter J,
Alonso R,
Cuevas A,
Kastelein JJP,
Duran M,
Stroes ESG
Publication year - 2012
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2011.01793.x
Subject(s) - cerebrotendinous xanthomatosis , familial hypercholesterolemia , medicine , cholestanol , pediatrics , cholesterol , sterol
Huijgen R, Stork ADM, Defesche JC, Peter J, Alonso R, Cuevas A, Kastelein JJP, Duran M, Stroes ESG. Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis. 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.