The British Columbia Familial Hypercholesterolemia Registry

326 ABSTRACT: With a prevalence rate of approximately 1 case in 500 people, heterozygous familial hypercholesterolemia is one of the most common genetic disorders encountered in clinical practice. Affected individuals have an impaired hepatic clearance of low-density lipoprotein particles and are thus predisposed to hyper cholesterolemia, with a consequent twentyfold increased risk of premature vascular disease. Early disease modification through life style changes and lipid-lowering therapy is highly effective: by treating three to four affected individ uals, one premature event can be prevent ed. There are approximately 8000 people with heterozygous familial hypercholesterolemia in British Co lumbia, yet over 85% of those affected remain undiagnosed. The British Columbia Familial Hypercholestero lemia Registry has been established to address this gap in patient care. Through this registry we aim to im prove identification and management of heterozygous familial hypercholesterolemia in BC, and to increase awareness of this potentially fatal yet highly treatable condition. T ype 1 diabetes mellitus, cystic fibrosis, and congenital hypo thyroidism are common terms in our medical lexicon. We are well versed in their clinical features, underlying pathophysiology, diagnostic criteria, and management approaches for these three diseases. The same, however, cannot be said for heterozygous familial hypercholesterolemia (hFH). Why is hFH—a potentially fatal disease that has a prevalence rate similar to that of type 1 diabetes and higher than that of cystic fibrosis and congenital hypothyroidism1,2—so often not recognized, leaving many affected individuals undiagnosed and untreated? Today, the recently established British Columbia Familial Hypercholesterolemia Registry, the first of its kind in Canada, is attempting to ad dress this gap in patient care.