patients with homozygous and compound heterozygous familial hypercholesterolaemia from three different populations: Genetic and clinical characteristics

Published: 14-07-2020| Version 1 | DOI: 10.17632/thpt9htws6.1
Tatiana Marusic


Homozygous familial hypercholesterolaemia (HoFH) and compound heterozygous FH (cHeFH) are rare disorders caused by disease-causing variants in both alleles of the LDLR or other FH-related genes. We present a dataset of the genetic and clinical characteristics of HoFH and cHeFH patients from the Slovenian FH registry and/or those who were previously diagnosed or managed at our institution (Slovenian, Pathan and Albanian ethnicity). Our study includes seven patients: two patients were diagnosed through the universal FH screening and five patients were diagnosed due to presence of xanthomas. All the mutations are present in LDLR gene. The HoFH and cHeFH patients are clinically and genetically very diverse, overlapping with heterozygous FH phenotypes.