Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia

Journal of Internal Medicine - Tập 253 Số 2 - Trang 161-168 - 2003
Pernette R. W. de Sauvage Nolting1, Joep C. Defesche1, Rudolf J.A Buirma2, Barbara A. Hutten3, Peter Lansberg4,5, John J.P. Kastelein1
1From the Department of Vascular Medicine, Academic Medical Center, Amsterdam
2Merck, Sharp & Dohme, Clinical Research, Haarlem
3Department of Clinical Epidemiology and Biostatistics, Academic Medical Center, Amsterdam
4Lipid Clinic, Slotervaart Hospital, Amsterdam
5The Netherlands

Tóm tắt

Abstract.  de Sauvage Nolting PRW, Defesche JC, Buirma RJA, Hutten BA, Lansberg PJ, Kastelein JJP (Academic Medical Center, Amsterdam; Clinical Research, Haarlem; Slotervaart Hospital, Amsterdam; the Netherlands). Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia. J Intern Med 2003; 253: 161–168.Objective.  Patients with familial hypercholesterolaemia (FH) vary widely in terms of onset of cardiovascular disease (CVD).Design.  The association between cardiovascular risk factors and prevalent CVD was examined in a cross‐sectional study in order to elucidate their contribution to atherogenesis.Setting and subjects.  Patients were recruited from 37 Dutch Lipid Clinics. The diagnosis of FH was based on a uniform diagnostic protocol, confirmed by DNA analysis in 62% of the cases. All patients were investigated free from any lipid‐lowering drug for at least 6 weeks.Main outcome measures.  Differences in lipids, lipoproteins and other risk factors for CVD were analysed in FH patients with and without CVD.Results.  A total of 526 patients were assessed and more than 37% had a history of CVD with a mean age of onset of 46.8 years. Mean LDL cholesterol (LDL‐C) levels were severely elevated (8.38 ± 2.13 mmol L−1). In univariate analysis, age, presence of hypertension or diabetes, body mass index, triglycerides (TG) and low HDL cholesterol (HDL‐C) were all significantly associated with CVD. Also in multivariate analysis, all these risk factors, except TG and diabetes, were significantly linked to CVD.Conclusion.  A high CVD risk in this large well‐documented characterized sample of FH patients is not only conferred by elevated LDL‐C but also by low HDL‐C.

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Tài liệu tham khảo

Lansberg PJ, 2000, Higher prevalence of familial hypercholesterolemia than expected in adult patients of four family practices in Netherlands, Ned Tijdschr Geneeskd, 144, 1437

10.1126/science.3513311

Goldstein JL, 2001, The Metabolic and Molecular Bases of Inherited Disease, 2863

10.1007/s00439-001-0628-8

Thompson GR, 1989, Genotypic and phenotypic variation in familial hypercholesterolemia, Arteriosclerosis, 9, I75

10.1161/01.ATV.18.2.309

10.1016/S0021-9150(02)00111-9

10.1093/clinchem/18.6.499

Marcovina SM, 1991, International Federation of Clinical Chemistry standardization project for measurements of apolipoproteins A‐I and B, Clin Chem, 37, 1676, 10.1093/clinchem/37.10.1676

10.1515/CCLM.1999.140

Spaapen LJM, 1992, Detection of hyperhomocysteinemia at premature cerebrovascular disease, Dutch Ass Clin Chem, 17, 194

10.1016/S0140-6736(00)03587-X

10.1515/CCLM.1998.127

10.1016/S0895-4356(00)00341-3

10.1161/01.ATV.11.2.290

10.1016/S0021-9150(99)00147-1

10.1016/S0021-9150(98)00200-7

10.1016/S0002-9149(00)01429-6

10.1161/01.ATV.17.11.3127

10.1016/0021-9150(76)90136-2

10.1016/S0021-9150(97)00076-2

10.1161/01.ATV.20.9.e41

Yamashita S, 1987, Relationship between LDL receptor activity and development of coronary heart disease in Japanese cases with heterozygous familial hypercholesterolemia, Artery, 15, 24

10.2165/00044011-200020020-00001

10.1161/01.CIR.92.3.290

10.1053/euhj.2000.2408

10.1161/01.CIR.97.9.871

10.1073/pnas.86.11.4171

10.1016/0140-6736(90)91242-3

10.1161/01.ATV.11.4.940

Real JT, 1999, Plasma Lp(a) values in familial hypercholesterolemia and its relation to coronary heart disease, Nutr Metab Cardiovasc Dis, 9, 41

Scholtz CL, 2000, Lipoprotein(a) determination and risk of cardiovascular disease in South African patients with familial hypercholesterolaemia, S Afr Med J, 90, 374

10.1016/0009-9120(94)00052-W

10.1161/01.ATV.16.6.713

10.1001/jama.1995.03530190040032

10.1161/01.CIR.97.3.237

10.1016/S0002-9149(00)01103-6

10.1016/S0002-9149(99)00095-8

10.1161/01.ATV.18.12.1958

10.1161/01.ATV.20.4.1101

10.1161/01.ATV.14.10.1561

10.1172/JCI115855

10.1093/ajcn/73.6.1027

10.1111/j.1365-2796.1994.tb00856.x