Prevalence of familial hypercholesterolemia in premature coronary artery disease patients admitted to a tertiary care hospital in North India

Abstract

Aims The prevalence of premature coronary artery disease (CAD) in India is two to three times more than other ethnic groups. Untreated heterozygous familial hypercholesterolemia (FH) is one of the important causes for premature CAD. As the age advances, these patients without treatment have 100 times increased risk of cardiovascular (CV) mortality resulting from myocardial infarction (MI). Recent evidence suggests that one in 250 individuals may be affected by FH (nearly 40 million people globally). It is indicated that the true global prevalence of FH is underestimated. The true prevalence of FH in India remains unknown. Methods A total of 635 patients with premature CAD were assessed for FH using the Dutch Lipid Clinical Network (DLCN) criteria. Based on scores, patients were diagnosed as definite, probable, possible, or no FH. Other CV risk factors known to cause CAD such as smoking, diabetes mellitus, and hypertension were also recorded. Results Of total 635 patients, 25 (4%) were diagnosed as definite, 70 (11%) as probable, 238 (37%) as possible, and 302 (48%) without FH, suggesting the prevalence of potential (definite + probable) FH of about 15% in the North Indian population. FH is more common in younger patients, and they have lesser incidence of common CV risk factors such as diabetes, hypertension, and smoking than the younger MI patients without FH (26.32% vs.42.59%; 17.89% vs.29.44%; 22.11% vs.40.74%). Conclusion FH prevalence is high among patients with premature CAD admitted to a cardiac unit. To detect patients with FH, routine screening with simple criteria such as family history of premature CAD combined with hypercholesterolemia, and a DLCN criteria score >5 may be effectively used.

Prevalence of Cardiovascular Risk Factors and Heterozygous Familial Hypercholesterolemia in Premature Atherosclerotic Patients Presenting with Acute Coronary Syndrome

“…In our study, no patient had tendinous xanthomatosis while 3 patients had Arcus cornialis. In contrast to our study, Sawhney et al, stated that 8.35% had arcus cornialis and 0.16% of patients had tendinous xanthomatosis, this may be high main age in our study [21]. Regarding Correlation between Dutch score and other variables in our study there was a significant negative correlation between Dutch score and age p = 0.021, while there was a highly positive correlation with total cholesterol and LDL p < 0.001.…”

Family-based approach in cardiovascular risk reduction

“…Familial hypercholesterolemia is one of the most common genetic disorders of lipid metabolism, which is an underdiagnosed, undertreated cause of premature coronary heart disease. Results from a previous study showed that in India, 15% of the patients who had myocardial infarction at a young age also had familial hypercholesterolemia, 3 and similar studies showed a 10% prevalence of familial hypercholesterolemia in the USA and a 14•7% prevalence of the condition in Australia. 4,5 Once an individual is diagnosed with familial hypercholesterolemia, other family members should be identified by cascade screening by clinical history and lipid profiling rather than genetic testing, which is neither easily available nor affordable.…”

Familial Hypercholesterolemia in Asia Pacific: A Review of Epidemiology, Diagnosis, and Management in the Region

“…The performance of the assay was verified by comparison of results with Sanger DNA sequencing testing was 4.4% and definite/probable FH diagnosed by the modified Dutch Lipid Clinic Network (DLCN) criteria was 23.6%. Investigators from New Delhi, India, assessed individuals with premature CAD for FH using the DLCN criteria 18) . Four percent were diagnosed as definite and 11% as probable.…”

“…In addition to the publications from China 17) , India 18) , and Japan 19) described in the epidemiology section of this review, Table 5 provides the summaries of additional efforts to screen ACS patients in the Asia Pacific region.…”