Abstract
Aim: To determine the prevalence, genetic characteristics, current management and outcomes of familial hypercholesterolaemia (FH) in the Gulf region.Methods: Adult (18-70 years) FH patients were recruited from 9 hospitals and centres across 5 Arabian Gulf countries. The study was divided into 4 phases and included patients from 3 different categories. In phase 1, suspected FH patients (category 1) were collected according to the lipid profile and clinical data obtained through hospital record systems. In phase 2, patients from category 2 (patients with a previous clinical diagnosis of FH) and category 1 were stratified into definitive, probable and possible FH according to the Dutch Lipid Clinic Network criteria. In phase 3, 500 patients with definitive and probable FH from categories 1 and 2 will undergo genetic testing for 4 common FH genes. In phase 4, these 500 patients with another 100 patients from category 3 (patients with previous genetic diagnosis of FH) will be followed for 1 year to evaluate clinical management and cardiovascular outcomes. The Gulf FH cohort was screened from a total of 34,366 patients attending out-patient clinics.Results: The final Gulf FH cohort consisted of 3,317 patients (mean age: 47±12 years, 54% females). The number of patients with definitive FH is 203. In this initial phase of the study, the prevalence of (probable and definite) FH is 1/232.Conclusion: The prevalence of FH in the adult population of the Arabian Gulf region is high. The Gulf FH registry, a first-of-a-kind multi-national study in the Middle East region, will help in improving underdiagnosis and undertreatment of FH in the region.
Highlights
Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease (CHD), dueBoth criteria are based on the presence of personal and first-degree family members of high cholesterol levels, premature CHD and tendon xanthomas
The final Gulf Familial Hypercholesterolemia Registry (Gulf FH) cohort consisted of 3,317 patients
58 Current Vascular Pharmacology, 2020, Vol 18, No 1 identify FH is by DNA analysis of the 4 common FH genes: low-density lipoprotein receptor (LDLR), apolipoprotein B (ApoB), proprotein convertase subtilisin/kexin type 9 (PCSK9) and low-density lipoprotein receptor adaptor protein (LDLRAP1) [4]
Summary
Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease (CHD), due Both criteria are based on the presence of personal and first-degree family members of high cholesterol levels, premature CHD and tendon xanthomas. For heterozygous FH (HeFH) the total cholesterol (TC) levels are around 8-15 mmol/L, patients typically develop CHD before 55 years of age and the prevalence in the general population varies between 1/200-500 [2]. This prevalence can be higher in subpopulations with founder effects [2]. The exact prevalence of FH in the Arabian Gulf countries is unknown due to the lack of national FH registries [14]
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