A novel case of homozygous LDLRAP1 gene mutation causing autosomal recessive familial hypercholesterolemia in Kuwait

Abstract

Background and Aims: Homozygous Familial Hypercholesterolemia (HoFH) is a rare genetic, autosomal disease characterized by high serum low density lipoprotein cholesterol (LDL-C), associated with characteristic clinical manifestations such as tendinous xanthomas and corneal arcus. Although the HoFH and the autosomal recessive familial hypercholesterolemia (ARH) share biochemical and phenotypical characteristics, the clinical diagnosis and management of ARH is challenging and requires confirmatory molecular diagnosis. Case description: a 15-year-old Kuwaiti boy presented to the polyclinic with symptoms of polyuria and polydipsia. Initial blood work up showed Total Cholesterol of 15 mmol/L with normal blood glucose. He was referred to the lipid outpatient clinic with clinical signs of hypercholesterolemia (eruptive xanthomas, bilateral tendon xanthomas, and corneal arcus) and abnormal lipid parameters (LDL-C 8.73 mmol/L, TC 10.55 mmol/L.) He was diagnosed with Familial Hypercholesterolemia (FH) based on the Dutch Lipid Clinic diagnostic criteria.