Volume : 1 | Issue : 1
Proceeding
Cascade screening for awareness and detection of familial hypercholesterolemia
Shashikant Gupta, Shally Saini, N Arul Jothi, A Devi
Cardiovascular Genetics Group, Department of Genetic Engineering, SRM University, Kattankulathur, Chennai, India
Received: November 10, 2017 | Published: : November 14, 2017
Proceeding
Familial hypercholesterolemia (FH) is an inherited autosomal genetic disorder characterized by severe, lifelong elevations in level of plasma cholesterol associated with low density lipoprotein (LDL) and hence, increases the risk of early-onset atherosclerosis and coronary artery disease (CAD). It has worldwide prevalence of 1:300 to 1:500. FH is treatable when identified, yet is vastly under-recognized and undertreated. Within India, low FH detection rate may be due to lack of national wide diagnostic criteria which may be contributing to a lack of uniform diagnostic practices. Cascade screening is an intervention to reduce burden of early onset heart diseases. It helps to increase FH awareness, characterize trends in earlier treatment and ultimately prevention of CHD events. CASCADE-FH is a unique partnership between FH patients, FH Foundation, clinical researchers and cardiologists to raise awareness of the need for improved diagnosis and treatment of FH in contemporary practice.