Familial Hypercholesterolemia (FH) is a common genetic disorder characterized by significantly elevated cholesterol and a family history of premature cardiovascular disease. FH results from specific, inherited mutations that cause over-production or under-clearance of cholesterol from the bloodstream. Because of this chronic, lifelong exposure to very high cholesterol from an early age, people with FH are at high cardiovascular risk. Because FH is autosomal dominant, the first degree relatives (children, siblings, parents) of those diagnosed have a 50% chance of having FH as well. FH can be diagnosed clinically, and early detection of FH is essential to prevent or delay the onset of atherosclerosis and heart disease. A lipid specialist consult may be required for those challenging cases or family education efforts.
Despite the importance of early detection and the ease of clinical diagnosis, FH remains under- diagnosed. The Simon Broome Register Clinical Assessment App for FH is an educational resource developed for health care providers to support educational efforts to promote early detection of FH. It is not a clinical diagnostic, and does not replace an evaluation by a qualified health care provider.
Developed by Infogen in partnership with Genzyme.
Terms and Conditions
The Simon Broome Register Clinical Assessment App for FH is for educational purposes only. This App is not a diagnostic tool and does not replace a careful evaluation of a patient by a qualified health care professional.