Autosomal recessive hypercholesterolemia in a kindred of Syrian ancestry

Autosomal recessive hypercholesterolemia is a rare genetic disorder due to homozygosity or compound heterozygosity for mutations in the low-density lipoprotein receptor adapter protein 1 gene (LDLRAP1), resulting in elevated low-density lipoprotein cholesterol (LDL-C) levels, large xanthomas, and increased cardiovascular risk. Here, we describe a Danish family of Syrian ancestry carrying a frameshift mutation in LDLRAP1, previously only described in Sardinia and Sicily in Italy and in Spain. In 2 children homozygous for this mutation, we evaluate the effect of long-term lipid-lowering treatment with atorvastatin as monotherapy or in combination with ezetimibe.

Source: Journal of Clinical Lipidology - June 7, 2020 Category: Lipidology Authors: Morten Hostrup Martinsen, Ib Christian Klausen, Anne Tybjaerg-Hansen, Berit Storgaard Hedegaard Source Type: research