| Title: |
Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis |
| Authors: |
Huijgen, R; Stork, ADM; Defesche, JC; Peter, J; Alonso, R; Cuevas, A; Kastelein, JJP; Duran, M; Stroes, ESG |
| Source: |
Clinical Genetics ; volume 81, issue 1, page 24-28 ; ISSN 0009-9163 1399-0004 |
| Publisher Information: |
Wiley |
| Publication Year: |
2011 |
| Collection: |
Wiley Online Library (Open Access Articles via Crossref) |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1111/j.1399-0004.2011.01793.x |
| Availability: |
https://doi.org/10.1111/j.1399-0004.2011.01793.x; https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.2011.01793.x; https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.2011.01793.x |
| Rights: |
http://onlinelibrary.wiley.com/termsAndConditions#vor |
| Accession Number: |
edsbas.4C979DD3 |
| Database: |
BASE |