Plasma exchange and heart–liver transplantation in a patient with homozygous familial hypercholesterolemia

A female patient born in 1950 underwent plasma exchange and concomitant drug therapy for 20 yr due to homozygous familial hypercholesterolemia. Plasma exchange reduced total cholesterol levels from 25–30 mmol/L (967–1160 mg/dL) before treatment to 9.5 mmol/L (363 mg/dL) with regression of xanthomas and no side effects of long‐term treatment. Due to end‐stage calcific left ventricular outflow tract obstruction not amenable to standard valve reconstructive surgery, a combined heart–liver transplantation was successfully performed in 1996. She is without symptoms and living a normal life 4 yr after transplantation. Total cholesterol value is normal (4.7 mmol/L [182 mg/dL]) using a moderate dose of statins. Selective coronary angiography is without signs of graft vascular disease and the liver function is normal.