Abstract 10997: Apheresis in Homozygous Familial Hypercholesterolemia - Results of 35 Years of Follow-Up of All Norwegian Patients with Homozygous Familial Hypercholesterolemia
Objective: Homozygous familial hypercholesterolemia (HFH) affects 1 per million, and leads to extreme cholesterol values and premature cardiovascular disease. Although removal of LDL-cholesterol by apheresis has significantly improved life expectancy for these patients, premature cardiovascular disease is still frequent. The aim of the present study was to obtain an overview of the seven HFH patients treated by LDL-apheresis in Norway.
Methods and results: Quality of life, clinical, laboratory, and cardiovascular status was assessed. Data are given as median (range). LDL-cholesterol at diagnosis (untreated) was 18.2 (15.3 - 32.8) mmol/L. Start of medication was at age 9 (2 - 35) years. Start of apheresis treatment was at age 10 (6 - 44) years. On regular weekly treatment with apheresis combined with maximum tolerable dose of statin and ezetimibe, LDL-cholesterol was reduced to 5.1 (4.5 - 7.3) mmol/L pre-apheresis, and 2.2 (1.3 - 2.8) mmol/L post-apheresis. Mean interval LDL-cholesterol was calculated being 4.2 (3.5 - 5.7) mmol/L. Two of the patients had untreated elevated levels of Lipoprotein (a) [2558 mg/L (reduced to 1390 mg/L pre- and 521 mg/L post-apheresis), and 1700 mg/L (reduced to 1630 mg/L pre- and 508 mg/L post-apheresis), respectively]. Time in apheresis treatment was 11 (1.5 - 24) years. Four patients had significant cardiovascular manifestations at the start of apheresis, and three of these experienced further progression despite treatment. Three patients did not have significant cardiovascular manifestations at start of apheresis, but two developed significant manifestations despite treatment. Thus, only one of the patients is totally free from cardiovascular findings. The patients scored high on both physical and mental health as measured by SF-36®, comparable to a healthy normal population in Norway.
Conclusion: LDL-apheresis is a well tolerated treatment. Five of seven patients had progression of cardiovascular manifestations despite mean interval LDL-cholesterol far below suggested treatment goals. It seems clear that treatment goal for these patients should be even lower, in line with patients having the much more frequent heterozygous form, orally treated (e.g. statins) to an LDL-cholesterol level of 1.8-2.6 mmol/L.
- © 2011 by American Heart Association, Inc.