The doctor's dilemma: Challenges in the diagnosis and care of homozygous familial hypercholesterolemia

Journal of Clinical Lipidology

Volumn 8, Issue 6, 2014, Pages 542-549

  Baum, Seth J ^a   Sijbrands, E J G ^b   Mata, Pedro ^c   Watts, Gerald F ^d  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c Medicina Interna   (Spain)

^d UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ALGORITHM; CARDIOVASCULAR DISEASE; CORONARY ARTERY ATHEROSCLEROSIS; DISEASE SEVERITY; EMERGENCY HEALTH SERVICE; FAMILIAL HYPERCHOLESTEROLEMIA; HOMOZYGOTE; HUMAN; PATIENT CARE; PHYSICIAN; PRIORITY JOURNAL; REVIEW; TREATMENT RESPONSE; ATHEROSCLEROSIS; COMPLICATION; CONSANGUINITY; DIFFERENTIAL DIAGNOSIS; DRUG EFFECTS; GENETIC SCREENING; GENETICS; HYPERLIPOPROTEINEMIA TYPE II; LIPID METABOLISM; MUTATION; PRACTICE GUIDELINE;

BENZIMIDAZOLE DERIVATIVE; LOMITAPIDE; LOW DENSITY LIPOPROTEIN RECEPTOR; MIPOMERSEN; OLIGONUCLEOTIDE;

ALGORITHMS; ATHEROSCLEROSIS; BENZIMIDAZOLES; CONSANGUINITY; DIAGNOSIS, DIFFERENTIAL; GENETIC TESTING; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LIPID METABOLISM; MUTATION; OLIGONUCLEOTIDES; PRACTICE GUIDELINES AS TOPIC; RECEPTORS, LDL;

EID: 84942748375     PISSN: 19332874     EISSN: 18764789     Source Type: Journal    
DOI: 10.1016/j.jacl.2014.09.005     Document Type: Editorial

References (63)

1. J.L. Goldstein, and M.S. Brown Familial hypercholesterolemia: identification of a defect in the regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity associated with overproduction of cholesterol Proc Natl Acad Sci U S A 70 1973 2804 2808
2. M.S. Brown, and J.L. Goldstein Familial hypercholesterolemia: defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity Proc Natl Acad Sci U S A 71 1974 788 792
3. A.K. Soutar, and R.P. Naoumova Mechanisms of Disease: genetic causes of familial hypercholesterolemia Nat Clin Pract Cardiovasc Med 4 2007 214 225
4. E. Usifo, S.E.A. Leigh, R.A. Whittall, and et al. Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment Ann Hum Genet 76 2012 387 401
5. National Institute for Health and Clinical Excellence The National Collaborating Centre for Primary Care NICE Clinical Guideline 71: Identification and management of familial hypercholesterolaemia 2008
6. A.C. Goldberg, P.N. Hopkins, P.P. Toth, and 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 5 2011 133 140
7. B.G. Nordestgaard, M.J. Chapman, S.E. Humphries, and et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease Consensus Statement of the European Atherosclerosis Society Eur Heart J 34 2013 3478 3490
8. G.F. Watts, S. Gidding, A.S. Wierzbicki, and et al. Integrated Guidance on the Care of Familial Hypercholesterolaemia from the International FH Foundation Int J Cardiol 171 2014 309 325
9. J.L. Goldstein, H.H. Hobbs, and M.S. Brown The Metabolic and Molecular Bases of Inherited Disease 2001 McGraw-Hill Information Services Company New York
10. F.J. Raal, and R.D. Santos Homozygous familial hypercholesterolemia: Current perspectives on diagnosis and treatment Atherosclerosis 223 2012 262 268
11. M. Cuchel, E. Bruckert, H.N. Ginsberg, and et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society Eur Heart J 35 2014 2146 2157
12. B. Sjouke, D.M. Kusters, I. Kindt, and et al. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome Eur Heart J 2014
13. F.J. Raal, G.J. Pilcher, V.R. Panz, and et al. Reduction in Mortality in Subjects With Homozygous Familial Hypercholesterolemia Associated With Advances in Lipid-Lowering Therapy Circulation 124 2011 2202 2207
14. D.M. Kolansky, M. Cuchel, B.J. Clark, and et al. Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia Am J Cardiol 102 2008 1438 1443
15. A. Vuorio, K.F. Doherty, S.E. Humphries, J. Kuoppala, and P.T. Kovanen Statin treatment of children with familial hypercholesterolemia - trying to balance incomplete evidence of long-term safety and clinical accountability: are we approaching a consensus? Atherosclerosis 226 2013 315 320
16. E.M.M. Ooi, P.H.R. Barrett, and G.F. Watts The extended abnormalities in lipoprotein metabolism in familial hypercholesterolemia: Developing a new framework for future therapies Int J Cardiol 168 2013 1811 1818
17. M. Cuchel, E.A. Meagher, H. du Toit Theron, and et al. Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study Lancet 381 2013 40 46
18. F.J. Raal, R.D. Santos, D.J. Blom, and et al. Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trial Lancet 375 2010 998 1006
19. D.J. Rader, and J.J.P. Kastelein Lomitapide and Mipomersen: Two First-in-Class Drugs for Reducing Low-Density Lipoprotein Cholesterol in Patients With Homozygous Familial Hypercholesterolemia Circulation 129 2014 1022 1032
20. M. Benn, G.F. Watts, A. Tybjaerg-Hansen, and B.G. Nordestgaard Familial Hypercholesterolemia in the Danish General Population: Prevalence, Coronary Artery Disease, and Cholesterol-Lowering Medication J Clin Endocrinol Metab 97 2012 3956 3964
21. Z. Shi, B. Yuan, D. Zhao, A.W. Taylor, J. Lin, and G.F. Watts Familial hypercholesterolemia in China: Prevalence and evidence of underdetection and undertreatment in a community population Int J Cardiol 174 2014 834 836
22. C. Stern The Hardy-Weinberg law Science 97 1943 137 138
23. Y. Yang, D.M. Muzny, J.G. Reid, and et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders N Engl J Med 369 2013 1502 1511
24. M.A. Bellis, K. Hughes, S. Hughes, and J.R. Ashton Measuring paternal discrepancy and its public health consequences J Epidemiol Community Health 59 2005 749 754
25. P.N. Hopkins, P.P. Toth, C.M. Ballantyne, and D.J. Rader Familial Hypercholesterolemias: Prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia J Clin Lipidol 5 2011 S9 S17
26. M. Futema, V. Plagnol, K. Li, and et al. Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations J Med Genet 51 2014 537 544
27. P.J. Norsworthy, J. Vandrovcova, E.R. Thomas, and et al. Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study BMC Med Genet 15 2014 70
28. P.J. Talmud, S. Shah, R. Whittall, and et al. Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study Lancet 381 2013 13 19
29. Food and Drug Administration (FDA) Postmarket Drug Safety Information for Patients and Providers - JUXTAPID (lomitapide) 2013 Food and Drug Administration (FDA)
30. M. Harada-Shiba, H. Arai, S. Oikawa, and et al. Guidelines for the management of familial hypercholesterolemia J Atheroscler Thromb 19 2012 1043 1060
31. R. Williams, S. Hunt, M. Schumacher, and et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics Am J Cardiol 72 1993 171 176
32. B. Starr, G. Hadfield, B.A. Hutton, and et al. 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 Clin Chem Lab Med 46 2008 791 803
33. National Cholesterol Education Program (NCEP) Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) Final Report Circulation 106 2002 3143 3421
34. N.J. Stone, J.G. Robinson, A.H. Lichtenstein, and et al. 2013 ACC/AHA Guideline on the Treatment of Blood Cholesterol to Reduce Atherosclerotic Cardiovascular Risk in Adults: A Report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines Circulation 129 2014 S1 S45
35. Ž. Reiner, A.L. Catapano, G. De Backer, and et al. ESC/EAS Guidelines for the management of dyslipidaemias Eur. Heart J 32 2011 1769 1818
36. K.C. Maki, P.M. Ridker, W.V. Brown, S.M. Grundy, and N. Sattar An assessment by the Statin Diabetes Safety Task Force: 2014 update J Clin Lipidol 8 2014 S17 S29
37. B.G. Nordestgaard, M.J. Chapman, K. Ray, and et al. Lipoprotein(a) as a cardiovascular risk factor: current status Eur Heart J 31 2010 2844 2853
38. R. Alonso, E. Andres, N. Mata, and et al. Lipoprotein (a) levels in Familial Hipercholesterolaemia: an important predictor for cardiovascular disease independent of the type of LDL-receptor mutation J Am Coll Cardiol 63 2014 1982 1989
39. J. Leebmann, E. Roseler, U. Julius, and et al. Lipoprotein Apheresis in Patients with Maximally Tolerated Lipid Lowering Therapy, Lp(a)-Hyperlipoproteinemia and Progressive Cardiovascular Disease: Prospective Observational Multicenter Study Circulation 128 2013 2567 2576
40. V. Schettler, C.L. Neumann, M. Hulpke-Wette, G.C. Hagenah, E.G. Schulz, and E. Wieland Current view: indications for extracorporeal lipid apheresis treatment Clin Res Cardiol Suppl 7 2012 15 19
41. G.R. Thompson The evidence-base for the efficacy of lipoprotein apheresis in combating cardiovascular disease Atheroscler Suppl 14 2013 67 70
42. G.R. Thompson, A. Catapano, S. Saheb, and et al. Severe hypercholesterolaemia: therapeutic goals and eligibility criteria for LDL apheresis in Europe Curr Opin Lipidol 21 2010 492 498
43. E.A. Stein, N. Honarpour, S.M. Wasserman, F. Xu, R. Scott, and F.J. Raal Effect of the PCSK9 Monoclonal Antibody, AMG 145, in Homozygous Familial Hypercholesterolemia Circulation 128 2013 2113 2120
44. F. Raal, N. Honarpour, D. Blom, and et al. Trial evaluating evolocumab, a PCSK9 antibody in patients with homozygous FH (TESLA): Results of the randomised, double-blind placebo-controlled trial EAS Madrid 2014 Abstract 1177
45. P. Greenland, J.S. Alpert, G.A. Beller, and et al. 2010 ACCF/AHA Guideline for Assessment of Cardiovascular Risk in Asymptomatic Adults: A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines Circulation 122 2010 2748 2764
46. L.A. Neefjes, G.-J.R. Ten Kate, A. Rossi, and et al. CT coronary plaque burden in asymptomatic patients with familial hypercholesterolaemia Heart 97 2011 1151 1157
47. J. Versmissen, D.M. Oosterveer, M. Yazdanpanah, and et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study Br Med J 337 2008 a2423
48. M.M. Page, D.A. Bell, A.J. Hooper, G.F. Watts, and D.J.R. Burnett Lipoprotein apheresis and new therapies for severe familial hypercholesterolemia in adults and children Best Practice & Research Clinical Endocrinology & Metabolism 28 2013 387 403
49. E.C. O'Brien, M.T. Roe, E.S. Fraulo, and et al. Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry Am Heart J 167 2014 342 349.e317
50. E. Hammond, G.F. Watts, Y. Rubinstein, and et al. Role of international registries in enhancing the care of familial hypercholesterolaemia Int J Evid Based Healthc 11 2013 134 139
51. Health Quality Ontario Low-density lipoprotein apheresis: an evidence-based analysis Ont Health Technol Assess Ser 7 2007 1 101
52. Z. Ademi, G.F. Watts, A. Juniper, and D. Liew A systematic review of economic evaluations of the detection and treatment of familial hypercholesterolemia Int J Cardiol 167 2013 2391 2396
53. S. Bertolini, S. Cassanelli, R. Garuti, and et al. Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia Arterioscler Thromb Vasc Biol 19 1999 408 418
54. F. Raal, V. Panz, A. Immelman, and G. Pilcher Elevated PCSK9 Levels in Untreated Patients With Heterozygous or Homozygous Familial Hypercholesterolemia and the Response to High-Dose Statin Therapy J Am Heart Assoc 2 2013 e000028
55. M.A.W. Umans-Eckenhausen, J.C. Defesche, E.J.G. Sijbrands, R.L.J.M. Scheerder, and J.J.P. Kastelein Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands Lancet 357 2001 165 168
56. L. Nherera, D. Marks, R. Minhas, M. Thorogood, and S.E. Humphries Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies Heart 97 2011 1175 1181
57. Z. Ademi, G.F. Watts, J. Pang, and et al. Cascade Screening Based on Genetic Testing is Cost-effective: Evidence for the Implementation of Models of Care for Familial Hypercholesterolaemia J Clin Lipidol 8 2014 390 400
58. S.E. Humphries, G. Norbury, S. Leigh, S.G. Hadfield, and D. Nair What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia? Curr Opin Lipidol 19 2008 362 368
59. S.R. Daniels, S.S. Gidding, and S.D. de Ferranti Pediatric aspects of Familial Hypercholesterolemias: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia J Clin Lipidol 5 2011 S30 S37
60. O.S. Descamps, S. Tenoutasse, X. Stephenne, and 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 218 2011 272 280
61. F.M. van der Valk, D.F. van Wijk, and E.S. Stroes Novel anti-inflammatory strategies in atherosclerosis Curr Opin Lipidol 23 2012 532 539
62. R. Weissleder, M. Nahrendorf, and M.J. Pittet Imaging macrophages with nanoparticles Nat Mater 13 2014 125 138
63. H.I. Keen, J. Krishnarajah, T.R. Bates, and G.F. Watts Statin myopathy: the fly in the ointment for the prevention of cardiovascular disease in the 21st century? Expert Opin Drug Saf 13 2014 1227 1239