Diagnosis and treatment of familial hypercholesterolemia in Spain: Consensus document;Diagnóstico y tratamiento de la hipercolesterolemia familiar en España: Documento de consenso

Atencion Primaria

Volumn 47, Issue 1, 2015, Pages 56-65

  Mata, Pedro ^a   Alonso, Rodrigo ^b   Ruiz, Antonio ^c   Gonzalez Juanatey, Jose R ^d   Badimón, Lina ^e   Díaz Díaz, Jose L ^f   Muñoz, María Teresa ^g   Muñiz, Ovidio ^h   Galve, Enrique ⁱ   Irigoyen, Luis ^j   Fuentes Jiménez, Francisco ^k   Dalmau, Jaime ^l   Pérez Jiménez, Francisco ^k  

^a Medicina Interna   (Spain)

^b Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^c Centro de Salud Pinto   (Spain)

^d Pediatric Nutrition Research Group Health Research Institute of Santiago de Compostela   (Spain)

^e HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^f UNIVERSITY OF A CORUÑA   (Spain)

^g HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^h HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

ⁱ HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^j HOSPITAL TXAGORRITXU   (Spain)

^k HOSPITAL UNIVERSITARIO REINA SOFÍA   (Spain)

^l HOSPITAL INFANTIL LA FE   (Spain)

more..

Author keywords

Cardiovascular disease; Cascade screening; Children adolescents; Familial hypercholesterolemia; Genetic testing; Homozygous familial hypercholesterolemia; Treatment

Indexed keywords

EZETIMIBE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

APHERESIS; BIRTH; CHOLESTEROL BLOOD LEVEL; CONFERENCE PAPER; CONSENSUS; COST EFFECTIVENESS ANALYSIS; FAMILIAL HYPERCHOLESTEROLEMIA; GENERAL PRACTITIONER; GENETIC SCREENING; HETEROZYGOTE; HOMOZYGOTE; HUMAN; ISCHEMIC HEART DISEASE; LONG TERM CARE; MEDICAL SPECIALIST; MORBIDITY; MORTALITY; SCREENING; SPAIN; XANTHOMA; ALGORITHM; CONSENSUS DEVELOPMENT; HYPERLIPOPROTEINEMIA TYPE II; PRACTICE GUIDELINE; ARTICLE; DISEASE ASSOCIATION; GENETIC ANALYSIS; LIPOPROTEIN APHERESIS SYSTEM; RISK REDUCTION;

ALGORITHMS; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; PRACTICE GUIDELINES AS TOPIC; SPAIN;

EID: 84945270069     PISSN: 02126567     EISSN: 15781275     Source Type: Journal    
DOI: 10.1016/j.aprim.2013.12.015     Document Type: Conference Paper

References (44)

1. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. En: Scriver CR, Beaudet AL, Sly WS, Valle D, editores. The Metabolic and Molecular Basis of Inherited Disease (volume II). New York, USA: McGraw-Hill; 2001. p. 2863-913.
2. Slack J. Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states. Lancet. 1969;2:1380-2.
3. Benn M, Watts GF, Tybjaerg-Hansen A, Nordestgaard BG. Familial hypercholesterolemia in the Danish general population: Prevalence. Coronary artery disease, and cholesterol-lowering medication. J Clin Endocrinol Metab. 2012;97:3956-64.
4. World Health Organization. Familial Hypercholesterolaemia: Report of a WHO Consultation. Paris: World Health Organization; 1997.
5. Alonso R, Castillo S, Civeira F, Puzo J, de la Cruz JJ, Pocovi M, et al. Heterozygous familial hypercholesterolemia in Spain. Description of 819 non related cases. Med Clin (Barc). 2002;118:487-92.
6. Versmissen J, Oosterveer DM, Yazdanpanah M, Defesche JC, Basart DC, Liem AH, et al. Efficacy of statins in familial hypercholesterolaemia: A long term cohort study. BMJ. 2008;337:a2423.
7. Pijlman AH, Huijgen R, Verhagen SN, Imholz BP, Liem AH, Kastelein JJ, et al. Evaluation of cholesterol lowering treatment of patients with familial hipercholesterolemia: A large cross-sectional study in The Netherlands. Atherosclerosis. 2010;209:189-94.
8. Mata N, Alonso R, Badimón L, Padró T, Fuentes F, Muñiz O, et al. Clinical characteristics and evaluation of LDL-cholesterol treatment of the Spanish Familial Hypercholesterolemia Longitudinal Cohort Study (SAFEHEART). Lipids Health Dis. 2011;10.
9. National Health Medical Research Council (NHMRC). NHMRC additional levels of evidence and grades for recommendations for developers of guidelines. Pilot program 2005-2007, 2005.
10. The AGREE Collaboration. Development and validation of an international appraisal instrument for assessing the quality of clinical practice guidelines: The AGREE project. Qual Saf Health Care. 2003;12:18-23.
11. Goldberg AC, Hopkins PN, Toth PP, Ballantyne CM, Rader DJ, Robinson JG, et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: Clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol. 2011;5 Suppl 3:S1-8.
12. Wierzbicki AS, Humphries SE, Minhas R, Guideline Development Group. Familial hypercholesterolemia: Summary of NICE guidance. BMJ. 2008;337:a1095. Guía completa en la web: http://www.nice.org.uk/nicemedia/pdf/CG071NICEGuideline.pdf
13. World Health Organization. Familial Hypercholesterolemia: Report of a second WHO consultation, World Health Organisation, Human Genetics programme, Division of Noncommunicable Diseases. World Health Organization, Geneva, Switzerland (1999) (WHO publication no. WHO7HGN/FH/CONS/99.2).
14. Damgaard D, Larsen ML, Nissen PH, Jensen JM, Jensen HK, Soerensen VR, et al. The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population. Atherosclerosis. 2005;180:155-60.
15. Civeira F, Ros E, Jarauta E, Plana N, Zambon D, Puzo J, et al. Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia. Am J Cardiol. 2008;102:1187-93.
16. Descamps OS, Leysen X, van Leuven F, Heller FR. The use of Achilles tendon ultrasonography for the diagnosis of familial hypercholesterolemia. Atherosclerosis. 2001;157:514-8.
17. Wald DS, Bestwick JP, Wald NJ. Child-parent screening for familial hypercholesterolaemia: Screening strategy based on a meta-analysis. BMJ. 2007;335:599.
18. Descamps OS, Tenoutasse S, Stephenne X, Gies I, Beauloye V, Lebrethon MC, et al. Management of familial hypercholesterolemia in children and young adults: Consensus paper developed by a panel of lipidologists, cardiologists, paediatricians, nutritionists, gastroenterologists, general practitioners and a patient organization. Atherosclerosis. 2011;218:272-80.
19. Watts GF, Sullivan DR, Poplawski N, van Bockxmeer F, Hamilton-Craig I, Clifton PM, et al. Familial hypercholesterolaemia: A model of care from Australasia. Atherosclerosis. 2011; Suppl 12:221-63.
20. Morais A, Lama RA, Dalmau J, Comité de Nutrición de la AEP. Hipercolesterolemia. Abordaje terapéutico. An Pediatr (Barc). 2009;70:488-96.
21. Raal FJ, Santos R. Homozygous familial hypercholesterolemia: Current perspectives on diagnosis and treatment. Atherosclerosis. 2012;223:262-8.
22. Huijgen R, Kindt I, Fouchier SW, Defesche JC, Hutten BA, Kastelein JJ, et al. Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia. Hum Mutat. 2010;31:752-60.
23. Palacios L, Grandoso L, Cuevas N, Olano-Martín E, Martinez A, Tejedor D, et al. Molecular characterization of familial hypercholesterolemia in Spain. Atherosclerosis. 2012;221:137-42.
24. Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: Guidance for clinicians to prevent coronary heart disease. Eur Heart J. 2013;34:3478-90.
25. Ned RM, Sijbrands EJ. Cascade screening for familial hypercholesterolemia (FH). PLoS Curr. 2011;3:RRN1238.
26. Oliva J, Lopez-Bastida J, Moreno SG, Mata P, Alonso R. Cost-effectiveness analysis of a genetic screening program in the close relatives of Spanish patients with familial hypercholesterolemia. Rev Esp Cardiol. 2009;62:57-65.
27. Defesche JC. Defining the challenges of FH screening for familial hypercholesterolemia. J Clin Lipidol. 2010;4:338-41.
28. Leren TP, Finborud TH, Manshaus TE, Ose L, Berge KE. Diagnosis of familial hypercholesterolemia in general practice using clinical diagnostic criteria or genetic testing as part of cascade genetic screening. Community Genet. 2008;11:26-35.
29. Catapano AL, Reiner Z, de Backer G, Graham I, Taskinen MR, Wiklund O, et al. ESC/EAS Guidelines for the management of dyslipidaemias: The Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS). Atherosclerosis. 2011;271 Suppl 1:S1-44.
30. Kusters DM, de Beaufort C, Widhalm K, Guardamagna O, Bratina N, Ose L, et al. Paediatric screening for hypercholesterolemia in Europe. Arch Dis Child. 2012;97:272-6.
31. Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ, Scheerder RL, Kastelein JJ. Review of first 5 years of screening for familial hyercholesterolemia in the Netherlands. Lancet. 2001;357:165-8.
32. Civeira F. International panel on management of familial hypercholesterolemia. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. Atherosclerosis. 2004;173:55-68.
33. Alonso R, Mata N, Castillo S, Fuentes F, Saenz P, Muñiz O, et al. Cardiovascular disease in familial hypercholesterolaemia: Influence of low-density lipoprotein receptor mutation type and classic risk factors. Atherosclerosis. 2008;200:315-22.
34. Jansen AC, van Aalst-Cohen ES, Tanck MW, Trip MD, Lansberg PJ, Liem AH, et al. The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: Data in 2400 patients. J Intern Med. 2004;256:482-90.
35. Alonso R, Mata P, Zambón D, Mata N, Fuentes-Jiménez F. Early diagnosis and treatment of familial hypercholesterolemia: Improving patient outcomes. Expert Rev Cardiovasc Ther. 2013;11:327-42.
36. Miname MH, Ribeiro 2nd MS, Parga Filho J, Avila LF, Bortolotto LA, Martinez LR, et al. Evaluation of subclinical atherosclerosis by computed tomography coronary angiography and its association with risk factors in familial hypercholesterolemia. Atherosclerosis. 2010;213:486-91.
37. Smilde TJ, van Wissen S, Wollersheim H, Trip MD, Kastelein JJ, Stalenhoef AF. Effect of aggressive versus conventional lipid lowering on atherosclerosis progression in familial hypercholesterolaemia (ASAP): A prospective, randomised, double-blind trial. Lancet. 2001;357:577-81.
38. Alonso R, Mata P, de Andres R, Villacastin BP, Martínez-González J, Badimon L. Sustained long-term improvement of arterial endothelial function in heterozygous familial hypercholesterolemia patients treated with simvastatin. Atherosclerosis. 2001;157:423-9.
39. Neil A, Cooper J, Betteridge J, Capps N, McDowell I, Durrington P, et al. Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: A prospective registry study. Eur Heart J. 2008;29:2625-33.
40. Poustie VJ, Rutherford P. Dietary treatment for familial hypercholesterolemia. Cochrane Database Syst Rev. 2001;2:CD001918.
41. Vuorio A, Kuoppala J, Kovanen PT, Humphries SE, Strandberg T, Tonstad S, et al. Statins for children with familial hypercholesterolemia. Cochrane Database Syst Rev. 2010;7:CD006401.
42. Thompson GR, Catapano A, Saheb S, Atassi-Dumont M, Barbir M, Eriksson M, et al. Severe hypercholesterolaemia: Therapeutic goals and eligibility criteria for LDL apheresis in Europe. Curr Opin Lipidol. 2010;21:492-8.
43. Szczepiorkowski ZM, Winters JL, Bandarenko N, Kim HC, Linenberger ML, Marques MB, et al. Guidelines on the use of therapeutic apheresis in clinical practice-evidence-based approach from the Apheresis Applications Committee of the American Society for Apheresis. J Clin Apher. 2010;25:83-177.
44. Mata N, Alonso R, Banegas JR, Zambón D, Brea A, Mata P. Quality of life in a cohort of familial hypercholesterolemia patients from the south of Europe. Eur J Public Health. 2014;24:221-5.