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(Arteriosclerosis, Thrombosis, and Vascular Biology. 2008;28:777.)
© 2008 American Heart Association, Inc.

Clinical and Population Studies

Vascular Calcifications in Homozygote Familial Hypercholesterolemia

Z. Awan; K. Alrasadi; G.A. Francis; R.A. Hegele; R. McPherson; J. Frohlich; D. Valenti; B. de Varennes; M. Marcil; C. Gagne; J. Genest; P. Couture

From the McGill University Health Center/Royal Victoria Hospital (Z.A., K.A., D.V., B.d.V., M.M., J.G.), Montréal, Québec; University of Alberta (G.A.F.), Edmonton, Alberta; Robarts Research Institute (R.A.H.), London, Ontario; Ottawa Heart Institute (R.M.), Ottawa, Ontario; University of British Colombia (J.F.), Vancouver, British Colombia; and Laval University (C.G., P.C.), Québec city, Québec.

Correspondence to Jacques Genest, MD, FRCP(C), Professor, Faculty of Medicine, McGill University, Novartis Chair in Medicine at McGill University, Director, Division of Cardiology, McGill University Health Center/Royal Victoria Hospital, 687 Pine avenue West, Montréal, QC H3A 1A1, Canada. E-mail Jacques.genest{at}muhc.mcgill.ca

Background— Patients with homozygous familial hypercholesterolemia (hmzFH) attributable to LDL receptor gene mutations have shown a remarkable increase in survival over the last 20 years. Early onset coronary heart disease (CHD) and calcific aortic valve stenosis are the major complications of this disorder. We now report extensive premature calcification of the aorta in patients with hmzFH.

Methods and Results— We examined 25 hmzFH patients from Canada; mean age was 32 years (range 5 to 54), and mean baseline cholesterol before treatment was 19±5 mmol/L (737±206 mg/dL). Aortic calcification was quantified using computed tomography (CT). An elevated mean calcium score was found in patients by age 20 and correlated with age (r²=0.53, P=0.001). One quarter (24%) of patients underwent aortic valve surgery.

Conclusions— We document premature severe aortic calcifications in all adult hmzFH patients studied. These presented considerable surgical management challenges. Strategies to identify and monitor aortic calcification in hmzFH by noninvasive techniques are required, as are clinical trials to determine whether additional or more intensive therapies will prevent the progression of such calcifications. Whether vascular calcifications in hmzFH subjects are related to sustained increases in LDL-C levels or to other mechanisms, such as abnormal osteoblast activity, remains to be determined.

We examined 25 patients (mean age 32 years; range 5 to 54) with homozygous familial hypercholesterolemia. Baseline cholesterol was 19±5 mmol/L (737±206 mg/dL). We documented premature severe aortic calcifications quantified using computed tomography (CT) in all adult hmzFH patients studied. An elevated mean calcium score was found in patients by age 20.

Key Words: aorta • calcification • familial hypercholesterolemia

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Vascular Calcification in Homozygote Familial Hypercholesterolemia

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				J. D. Morrisett and K. C. Vickers Vascular Calcification in Homozygote Familial Hypercholesterolemia Arterioscler Thromb Vasc Biol, April 1, 2008; 28(4): 606 - 607. [Full Text] [PDF]