Identification and management of familial hypercholesterolaemia: what does it mean to primary care?

作者: Nadeem Qureshi , Steve E Humphries , Mary Seed , Philip Rowlands , Rubin Minhas

DOI: 10.3399/BJGP09X472674

关键词:

摘要: Familial hypercholesterolaemia is one of the most common dominantly inherited disorders to be identified in primary care, leading raised serum cholesterol evident from first year life. Around 1 500 people are affected by this condition, but less than 15% these currently attending lipid clinics, suggesting that vast majority unrecognised general practice. The recently released National Institute for Health and Clinical Excellence evidence-based guideline on identification management familial provides an opportunity bridge gap. Primary care has a role systematic opportunistic case finding, such as recognising relevance family history premature coronary heart disease and/or grossly elevated cholesterol. Although individuals need specialist GPs can reinforce information provided specialists support cascade screening other members extended family.

参考文章(15)
Andrew Neil, Rubin Minhas, Margaret Thorogood, Steve E. Humphries, Nadeem Qureshi, Philip Rowlands, Mary Seed, Ian McDowell, Melanie Watson, Dawn Davies, Helen Stracey, Philip Lee, Identification and management of familial hypercholesterolaemia National Institute for Health and Clinical Excellence. ,(2008)
Brian Starr, S. Gaye Hadfield, Barbara A. Hutten, Peter J. Lansberg, Trond P. Leren, Dorte Damgaard, H. Andrew W. Neil, Steve E. Humphries, Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing Clinical Chemistry and Laboratory Medicine. ,vol. 46, pp. 791- 803 ,(2008) , 10.1515/CCLM.2008.135
Jean-Patrice Baillargeon, Donna K. McClish, Paulina A. Essah, John E. Nestler, Association between the Current Use of Low-Dose Oral Contraceptives and Cardiovascular Arterial Disease: A Meta-Analysis The Journal of Clinical Endocrinology and Metabolism. ,vol. 90, pp. 3863- 3870 ,(2005) , 10.1210/JC.2004-1958
Gunilla Hollman, Anders G. Olsson, Anna-Christina Ek, Disease knowledge and adherence to treatment in patients with familial hypercholesterolemia. Journal of Cardiovascular Nursing. ,vol. 21, pp. 103- 108 ,(2006) , 10.1097/00005082-200603000-00005
Dalya Marks, Margaret Thorogood, H.Andrew W Neil, Steve E Humphries, A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis. ,vol. 168, pp. 1- 14 ,(2003) , 10.1016/S0021-9150(02)00330-1
Sandy S. Sung, Anna-Marie E. Brassington, Patrycja A. Krakowiak, John C. Carey, Lynn B. Jorde, Michael Bamshad, Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. American Journal of Human Genetics. ,vol. 73, pp. 212- 214 ,(2003) , 10.1086/376418
Ågot Lia Amundsen, Janette Khoury, Per Ole Iversen, Caroline Bergei, Leiv Ose, Serena Tonstad, Kjetil Retterstøl, Marked changes in plasma lipids and lipoproteins during pregnancy in women with familial hypercholesterolemia Atherosclerosis. ,vol. 189, pp. 451- 457 ,(2006) , 10.1016/J.ATHEROSCLEROSIS.2006.01.002
D. Marks, M. Thorogood, J. M. Farrer, S. E. Humphries, Census of clinics providing specialist lipid services in the United Kingdom. Journal of Public Health. ,vol. 26, pp. 353- 354 ,(2004) , 10.1093/PUBMED/FDH176
A. Neil, J. Cooper, J. Betteridge, N. Capps, I. McDowell, P. Durrington, M. Seed, S. E. Humphries, , Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: A prospective registry study European Heart Journal. ,vol. 29, pp. 2625- 2633 ,(2008) , 10.1093/EURHEARTJ/EHN422
John C LaRosa, Scott M Grundy, David D Waters, Charles Shear, Philip Barter, Jean-Charles Fruchart, Antonio M Gotto, Heiner Greten, John JP Kastelein, James Shepherd, Nanette K Wenger, None, Intensive lipid lowering with atorvastatin in patients with stable coronary disease. The New England Journal of Medicine. ,vol. 352, pp. 1425- 1435 ,(2005) , 10.1056/NEJMOA050461