These authors contributed equally.
Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis
Article first published online: 16 OCT 2011
© 2011 John Wiley & Sons A/S
Volume 81, Issue 1, pages 24–28, January 2012
How to Cite
Huijgen, R., Stork, A., Defesche, J., Peter, J., Alonso, R., Cuevas, A., Kastelein, J., Duran, M. and Stroes, E. (2012), Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis. Clinical Genetics, 81: 24–28. doi: 10.1111/j.1399-0004.2011.01793.x
- Issue published online: 12 DEC 2011
- Article first published online: 16 OCT 2011
- Accepted manuscript online: 28 SEP 2011 11:56AM EST
- Received 9 August 2011, revised and accepted for publication 26 September 2011
- familial hypercholesterolemia;
- LDL cholesterol;
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.