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.
Offstad
J
J
Department of Cardiology, National Hospital, Rikshospitalet, Sognsvannsveien 20, 0027 Oslo, Norway. jon.offstad@rikshospitalet.no
Schrumpf
E
E
Geiran
O
O
Søreide
O
O
Simonsen
S
S
D002784:Cholesterol / Q000097:blood; D005260:Female; D016027:Heart Transplantation; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000628:therapy*; D016031:Liver Transplantation; D008875:Middle Aged; D010951:Plasma Exchange; D014280:Triglycerides / Q000097:blood; D014694:Ventricular Outflow Obstruction / Q000209:etiology / Q000601:surgery
D014280:Triglycerides; D002784:Cholesterol