LDL-apheresis in homozygous LDL-receptor-defective familial hypercholesterolemia: the Munich experience.
23 patients, homozygotes for LDL-receptor defective familial hypercholesterolemia (FH), were diagnosed at our institute since 1960, eight of whom were heterozygous compounds. Three were lost to follow-up. Eight patients died at ages between 7 and 60 years due to cardiovascular complications, five from acute myocardial infarction, one from acute left heart failure due to severe aortic stenosis, and two from sudden death at their home. 12 patients have been treated with regular LDL-apheresis, 10 of these have continued the therapy for 8 to 27 years. The longest treatment has lasted for 31 years and is going on. The first patient started with plasma exchange in 1976.
Internal Medicine, Stoffwechselambulanz, Medizinische Poliklinik - Campus Innenstadt, LMU Muenchen, Pettenkoferstr. 8a, 80336 Muenchen, Germany. ckeller@med.uni-muenchen.de
Christiane
C
Keller
D000293:Adolescent; D000328:Adult; D001344:Autopsy; D001781:Blood Component Removal / Q000009:adverse effects; D002318:Cardiovascular Diseases / Q000097:blood / Q000235:genetics / Q000401:mortality / Q000517:prevention & control*; D002423:Cause of Death; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease; D005858:Germany; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000235:genetics / Q000401:mortality / Q000628:therapy*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011973:Receptors, LDL / Q000097:blood / Q000235:genetics*; D013997:Time Factors; D016896:Treatment Outcome; D055815:Young Adult
D011973:Receptors, LDL