Getting Low in Familial Hypercholesterolemia

FH is marked by high levels of circulating LDL-C, leading to increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Patients frequently remain undiagnosed, resulting in poor outcomes and failure to diagnose family members. Clinicians should be aware of the diagnostic criteria as well as the importance of genetic testing. FH generally responds inadequately to traditional lipid-lowering therapies such as statins and often necessitates more effective biologic therapies. A multidisciplinary approach is needed in treating FH, and clinicians should be aware of recent discoveries in lipid genetics, currently endorsed diagnostic criteria, and recently approved and emerging agents to treat FH.