Heterozygous familial hypercholesterolaemia in a pair of identical twins: a case report and updated review.

ABSTRACT:

Background

Familial hypercholesterolaemia (FH) is the most common inherited metabolic disease with an autosomal dominant mode of inheritance. It is characterised by raised serum levels of total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-c), leading to premature coronary artery disease. Children with FH are subjected to early and enhanced atherosclerosis, leading to greater risk of coronary events, including premature coronary artery disease. To the best of our knowledge, this is the first report of a pair of monochorionic diamniotic identical twins with a diagnosis of heterozygous FH, resulting from mutations in both LDLR and ABCG8 genes.

Case presentation

This is a rare case of a pair of 8-year-old monochorionic diamniotic identical twin, who on family ca

SUBMITTER: Mohd Nor NS 

PROVIDER: S-EPMC6458607 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature