Clinical outcome of familial hypercholesterolemia (FH) at King Abdulaziz Medical City, Riyadh-A 20 year experience

Familial Hypercholesterolemia (FH), is a well recognized risk factor for premature atherosclerosis and increased cardiovascular mortality. Prevalence of FH and FHrelated cardiovascular adverse clinical outcomes in the Saudi population are unknown. The aim of this study is to evaluate; epidemiological aspects, current management practices and clinical outcomes of FH over a 20-year-period, in King Abdulaziz medical city-Riyadh (KAMC-R). This is a retrospective, chart review study that includes patients of both genders and all ages, who have been clinically diagnosed as FH or have had significantly elevated cholesterol level, after excluding secondary causes of hypercholesterolemia. Potential study candidates between January 1990 and December 2010 were identified through hospital information system and laboratory database. Study population was limited to a subgroup of patients who have an LDL-C ⩾10 mmol/l as a potential homozygous phenotype, representing the highest risk population who deserves special medical attention. A set of predetermined demographic, clinical and laboratory variables were meticulously extracted from paper charts and electronic medical records. Out of 1227 discharge diagnosis of FH and 29,196 laboratory database candidates of LDL-C >4 mmol/l, 31 subjects met the study criteria. All patients are Saudi Nationals with mean age of 23 years and 52% being males. Xanthoma was documented in 87% with mean baseline LDL-C of 16.5 mmol/l and latest available mean LDL-C of 14 mmol/l. Statins were used in 94%, while longterm apheresis therapy was performed for 2 individuals (7%) and none of the study population underwent liver transplantation. Ten (32%) patients with mean age of 21 years underwent cardiac surgical interventions in form of CABG, mostly in combination with different valve replacement procedures. Seven patients (23%) were either documented to be dead or lost to follow up. The demographic distribution, clinical features and laboratory parameters are highly suggestive of Homozygous FH in the majority of study population. This large number of potential Homozygous FH in a small Saudi community is highly suggestive of increased prevalence of FH in the Saudi population at large as compared to the western countries. The reported adverse clinical outcomes in conjunction with persistently elevated LDL-C level may reflect the substandard lipid lowering strategies being delivered to this population. National FH registry and comprehensive FH management program are strongly recommended for urgent implementation.