Familial Hypercholesterolemia: Key Info for Physicians

• Dr. Mutaz Al-Sabah — M.Sc. Cardiology (Cairo University), President – Iraqi Lipid Clinics Network, IAS Board Member Expert in Preventive Cardiology, ASCVD, Dyslipidemia & Familial Lipid Disorders, Internationally recognized researcher & speaker

Cardiology

Familial hypercholesterolemia (FH) is a genetic disorder characterized by markedly elevated low-density lipoprotein cholesterol (LDL-C) from birth, leading to premature atherosclerotic cardiovascular disease. It can be heterozygous (more common) or homozygous (rare, severe). Diagnosis relies on clinical criteria—such as tendon xanthomas, family history of early heart disease, and LDL-C levels—and genetic testing when available. Early identification is critical to initiate aggressive lipid-lowering therapy, including statins, ezetimibe, and PCSK9 inhibitors. Lifestyle modification and cardiovascular risk management are essential. Cascade screening of family members helps detect affected individuals early, allowing timely intervention and improved long-term outcomes.