Disease control via intensified lipoprotein apheresis in three siblings with familial hypercholesterolemia

摘要

BACKGROUND: Familial hypercholesterolemia (FH), the prevalent monogenic form of hypercholesterolemia, carries the risk of premature coronary heart disease. Lipoprotein-apheresis is established in children with severe dyslipidemia. We present 3 siblings with a negativeegative residual low density lipoprotein (LDL) receptor mutation (p.Trp577Arg), unresponsive to drug treatment.