Images in Clinical Medicine
Homozygous Familial Hypercholesterolemia
N Engl J Med 1999; 341:490August 12, 1999
- Article
Figure 1 A 39-year-old man with homozygous familial hypercholesterolemia because of a G→C mutation at the acceptor-splice site of intron 7 of the low-density lipoprotein (LDL) receptor had undergone coronary-artery bypass grafting at the age of 29 years and carotid endarterectomy at the ages of 38 and 39 years. His plasma LDL cholesterol level ranged from 463 to 500 mg per deciliter (12 to 13 mmol per liter). Twice-monthly treatment with selective LDL filtration, with the use of apheresis and a macromolecular exclusion filter (pore size, approximately 2×106 daltons), was begun and was subsequently supplemented with atorvastatin at a dose of 80 mg per day. Panels A and B show xanthomas of the elbow before treatment and after 10 years of treatment, respectively. The mean plasma LDL cholesterol level was reduced by approximately 55 percent with combined treatment (Panel C). Each point in Panel C represents an LDL cholesterol value during treatment. Dotted lines indicate averaged levels over time.
Jacques Genest, Jr., M.D.
Clinical Research Institute of MontrealMarc-André Lavoie, M.D.
Montreal Heart Institute, Montreal, QC H2W 1R7, Canada- Citing Articles (1)
Citing Articles
1
Khalid Alrasadi, Khalid Alwaili, Zuhier Awan, David Valenti, Patrick Couture, Jacques Genest. (2009) Aortic calcifications in familial hypercholesterolemia: Potential role of the low-density lipoprotein receptor gene. American Heart Journal 157:1, 170-176
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