Endocrine Abstracts

Familial Hypercholesterolemia (FH) is a monogenic disease, associated with variants in the LDLR, APOB, and PCSK9 genes. The initial diagnosis is based on clinical criteria like the DLCN criteria. A score > 8 points qualifies the patient as "definite" for the diagnosis of FH. It is characterized by lifelong elevations in plasma low-density lipoprotein cholesterol (LDL-C) levels and premature coronary heart disease (CHD). FH is an underdiagnosed and undertreated genetic disorder, which affects 1 in 200 to 250 people worldwide of all races and ethnicities. The general lack of awareness about FH among the public and the medical community has resulted in only 10% of the FH population being diagnosed and adequately treated. It is recommended that children, adults, and families should be screened for FH if an individual or family member has FH, an adult plasma cholesterol level ≥8 mmol/l (≥310 mg/dl) or in a child ≥6 mmol/l (≥230 mg/dl), premature CHD, tendon xanthomas, or sudden premature cardiac death. In FH, low-density lipoprotein cholesterol goals are <3.5 mmol/l (<135 mg/dl) for children, <2.5 mmol/l (<100 mg/dl) for adults, and <1.8 mmol/l (<70 mg/dl) for adults with known CHD or diabetes. In addition to lifestyle and dietary advice, priority treatments are (i) in children, statins, ezetimibe, and bile acid-binding resins, and (ii) in adults, maximal potent statin dose, ezetimibe, bile acid-binding resins, and monoclonal antibodies directed against PCSK9. Lipoprotein apheresis can be offered in homozygotes and in heterozygotes with CHD refractory to treatment. FH is usually diagnosed late. Guidelines-recommended LDL cholesterol concentrations are rarely achieved with single-agent therapy. Cardiovascular risk factors and the presence of CHD were lower among non-index cases, who were diagnosed earlier. Earlier detection and an increase in the use of combination therapies are required to reduce the global burden of FH.