The Gulf Familial Hypercholesterolemia Registry (Gulf FH): Design, Rationale and Preliminary Results

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.

Prevalence of cardiovascular disease risk factors and long-term outcomes in the Saudi population: Results from the Prospective Urban Rural Epidemiology study (PURE-Saudi)

“…We have reported recently a high prevalence of familial hypercholesterolemia in Saudi Arabia and the rest of the Arabian Gulf countries. [73] In conclusion, the PURE-Saudi is the first population cohort study in Saudi Arabia. It demonstrated the continued high prevalence of CVD risk factors in the adult Saudi population despite over a decade of several population surveys, and some of these factors were even more prevalent in the rural than the urban population.…”

Prevalence of cardiovascular disease risk factors and long-term outcomes in the Saudi population: Results from the Prospective Urban Rural Epidemiology study (PURE-Saudi)

“…Lastly, we cannot exclude the role of genetic predisposition to such high prevalence of CVD risk factors, which could be related to the high consanguinity in the Saudi population. We have reported recently a high prevalence of familial hypercholesterolemia in Saudi Arabia and the rest of the Arabian Gulf countries [73].…”

A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia

“…Studies in other global regions not covered in this review are underway or beginning to examine the clinical and actionable outcomes discussed herein, to ascertain the clinical and public health utility of FH genetic testing. For example, the gulf familial hypercholesterolemia registry study is occurring among an adult population within the Arabian Gulf region where the prevalence of probable and definite FH (per DLCN criteria) is 1/232 [54]. Such studies will contribute to the rich and growing body of evidence showing how FH genetic testing might lead to overall favorable public health outcomes that could help address the current and growing global epidemic of cardiovascular disease.…”