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Autosomal recessive hypercholesterolaemia: long-term follow up and response to treatment
Autosomal recessive hypercholesterolaemia (ARH) is caused by mutations in ARH on chromosome 1p35–36, encoding a putative adaptor protein. Mutations in the gene prevent normal internalisation of the low density lipoprotein (LDL) receptor by cultured lymphocytes and monocyte-derived macrophages, but n...
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Published in: | Atherosclerosis 2004-05, Vol.174 (1), p.165-172 |
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Main Authors: | , , , , , |
Format: | Article |
Language: | English |
Subjects: | |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
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Summary: | Autosomal recessive hypercholesterolaemia (ARH) is caused by mutations in
ARH on chromosome 1p35–36, encoding a putative adaptor protein. Mutations in the gene prevent normal internalisation of the low density lipoprotein (LDL) receptor by cultured lymphocytes and monocyte-derived macrophages, but not skin fibroblasts. This newly identified disorder is characterised by severe hypercholesterolaemia, large tendon, tuberous and planar xanthomas and premature atherosclerosis.
We describe long-term (9–23 years) follow up and response to treatment of eight subjects with ARH from four families (Turkish/Lebanese, Indian-Asian, English and Italian). The clinical phenotype of ARH is similar to that of classical homozygous familial hypercholesterolaemia (FH) caused by mutations in the LDL-receptor gene but is more variable, less severe and is more responsive to lipid-lowering therapy with bile acid sequestrants and/or HMG–CoA reductase inhibitors. The latter reduced total serum cholesterol by up to 60% and the former by 20–35%. The cardiovascular complications of premature atherosclerosis seem to be delayed in some individuals and the involvement of the aortic root and valve are rarer in comparison with homozygous FH. |
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ISSN: | 0021-9150 1879-1484 |
DOI: | 10.1016/j.atherosclerosis.2004.01.020 |