Familial hypercholesterolemia mutations in the Middle Eastern and North African region: A need for a national registry

Journal of Clinical Lipidology

Volumn 9, Issue 2, 2015, Pages 187-194

  Bamimore, Mary Aderayo ^a   Zaid, Ahmed ^b   Banerjee, Yajnavalka ^c   Al Sarraf, Ahmad ^d   Abifadel, Marianne ^e   Seidah, Nabil G ^f   Al Waili, Khalid ^c   Al Rasadi, Khalid ^c   Awan, Zuhier ^a  

^a KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^b UNIVERSITY OF TRIPOLI   (Libyan Arab Jamahiriya)

^c SULTAN QABOOS UNIVERSITY   (Oman)

^d MINISTRY OF HEALTH   (Kuwait)

^e SAINT JOSEPH UNIVERSITY   (Lebanon)

^f CLIN RESEARCH INSTITUTE OF MONTREAL   (Canada)

Author keywords

Cardiovascular diseases; Cascade testing; Familial hypercholesterolemia registry; Genetic screening; Mutations

Indexed keywords

APOLIPOPROTEIN B100; LOW DENSITY LIPOPROTEIN RECEPTOR; SUBTILISIN;

ARTICLE; CARDIOVASCULAR MORTALITY; CONSANGUINITY; COST EFFECTIVENESS ANALYSIS; DISEASE PREDISPOSITION; EAST AFRICAN; FAMILIAL HYPERCHOLESTEROLEMIA; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; HEALTH CARE COST; HETEROZYGOSITY; HUMAN; NORTH AFRICAN; PRIORITY JOURNAL; REGISTER; SCREENING; AFRICA; CARDIOVASCULAR DISEASES; GENETICS; HYPERLIPOPROTEINEMIA TYPE II; MIDDLE EAST; MUTATION;

AFRICA, NORTHERN; CARDIOVASCULAR DISEASES; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MIDDLE EAST; MUTATION; RECEPTORS, LDL; REGISTRIES;

EID: 84928824037     PISSN: 19332874     EISSN: 18764789     Source Type: Journal    
DOI: 10.1016/j.jacl.2014.11.008     Document Type: Review

References (74)

1. A.S. Go, D. Mozaffarian, and V.L. Roger Heart disease and stroke statistics-2013 update: a report from the American Heart Association Circulation 127 2013 e6 e245
2. O.S. Alamoudi, S.M. Attar, T.M. Ghabrah, and M.A. Al-Qassimi Pattern of common diseases in hospitalized patients at an University Hospital in Saudi Arabia; a study of 5594 patients JKAU Med Sci 16 2009 3 12
3. T.M. Ramahi Cardiovascular disease in the Asia Middle East region: global trends and local implications Asia Pac J Public Health 22 2010 83S 89S
4. A.F. Al-Kaabba, N.A. Al-Hamdan, A. El Tahir, A.M. Abdalla, A.A. Saeed, and M.A. Hamza Prevalence and correlates of dyslipidemia among adults in Saudi Arabia: results from a national survey Open J Endocr Metab Dis 2 2012 89
5. M.M. Al-Nozha, M.R. Arafah, and M.A. Al-Maatouq Hyperlipidemia in Saudi Arabia Saudi Med J 29 2008 282 287
6. Organization WH World Health Statistics 2008 2008 World Health Organization
7. L. Gollogly World Health Statistics 2009 2009 World Health Organization
8. K.S. Reddy, and S. Yusuf Emerging epidemic of cardiovascular disease in developing countries Circulation 97 1998 596 601
9. B.J. Gersh, K. Sliwa, B.M. Mayosi, and S. Yusuf Novel therapeutic concepts: the epidemic of cardiovascular disease in the developing world: global implications Eur Heart J 31 2010 642 648
10. N.W. Thornhill The Natural History of Inbreeding and Outbreeding: Theoretical and Empirical Perspectives 1993 University of Chicago Press
11. A. Bener, R. Hussain, and A.S. Teebi Consanguineous marriages and their effects on common adult diseases: studies from an endogamous population Med Princ Pract 16 2007 262 267
12. M.I. El Mouzan, A. Salloum, A. Herbish, M.M. Qurachi, and A. Omar Consanguinity and major genetic disorders in Saudi children: a community-based cross-sectional study Ann Saudi Med 28 2008 169
13. J.L. Goldstein, and M.S. Brown The LDL receptor Arterioscler Thromb Vasc Biol 29 2009 431 438
14. A.K. Khachadurian The inheritance of essential familial hypercholesterolemia Am J Med 37 1964 402 407
15. M.S. Brown, and J.L. Goldstein Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man Science 185 1974 61 63
16. T.L. Innerarity, K.H. Weisgraber, and K.S. Arnold Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding Proc Natl Acad Sci U S A 84 1987 6919 6923
17. M. Abifadel, M. Varret, and J.P. Rabes Mutations in PCSK9 cause autosomal dominant hypercholesterolemia Nat Genet 34 2003 154 156
18. C.K. Garcia, K. Wilund, and M. Arca Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein Science 292 2001 1394 1398
19. I. De Castro-Oros, M. Pocovi, and F. Civeira The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations Appl Clin Genet 3 2010 53 64
20. M. Alghamdi, and E. Aljohani Clinical outcome of familial hypercholesterolemia (FH) at King Abdulaziz Medical City, Riyadh-A 20 year experience J Saudi Heart Assoc 25 2013 149
21. K. Al-Waili, W.A. Al-Zidi, and A.R. Al-Abri Mutation in the PCSK9 gene in Omani Arab subjects with autosomal dominant hypercholesterolemia and its effect on PCSK9 protein structure Oman Med J 28 2013 48 52
22. P. Muiya, S. Wakil, and M. Al-Najai Identification of loci conferring risk for premature CAD and heterozygous familial hyperlipidemia in the LDLR, APOB and PCSK9 genes Int J Diabetes Mellit 1 2009 16 21
23. S.M. Shawar, M.A. Al-Drees, A.R. Ramadan, N.H. Ali, and S.M. Alfadhli The Arabic allele: a single base pair substitution activates a 10-base downstream cryptic splice acceptor site in exon 12 of LDLR and severely decreases LDLR expression in two unrelated Arab families with familial hypercholesterolemia Atherosclerosis 220 2012 429 436
24. S. Lind, M. Eriksson, E. Rystedt, O. Wiklund, B. Angelin, and G. Eggertsen Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolaemia J Intern Med 244 1998 19 25
25. N. Loux, P. Benlian, and D. Pastier Recurrent mutation at aa 792 in the LDL receptor gene in a French patient Hum Genet 87 1991 373 375
26. A. Jelassi, A. Slimani, and I. Jguirim Effect of a splice site mutation in LDLR gene and two variations in PCSK9 gene in Tunisian families with familial hypercholesterolaemia Ann Clin Biochem 48 2011 83 86
27. A. Slimani, A. Jelassi, and I. Jguirim Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients Atherosclerosis 222 2012 158 166
28. M. Abifadel, J.P. Rabes, and S. Jambart The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene Hum Mutat 30 2009 E682 E691
29. H. Al-Kateb, S. Bahring, and K. Hoffmann Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia Circ Res 90 2002 951 958
30. S. Lind, A.G. Olsson, M. Eriksson, M. Rudling, G. Eggertsen, and B. Angelin Autosomal recessive hypercholesterolaemia: normalization of plasma LDL cholesterol by ezetimibe in combination with statin treatment J Intern Med 256 2004 406 412
31. J. Rodenburg, A. Wiegman, M.N. Vissers, J.J. Kastelein, and A.F. Stalenhoef A boy with autosomal recessive hypercholesterolaemia Neth J Med 62 2004 89 93
32. A.T. Al-Hinai, A. Al-Abri, and H. Al-Dhuhli First case report of familial hypercholesterolemia in an Omani family due to novel mutation in the low-density lipoprotein receptor gene Angiology 64 2013 287 292
33. M. El Messal, K. Ait Chihab, and R. Chater Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene J Hum Genet 48 2003 199 203
34. K. Ait Chihab, R. Chater, and A. Cenarro Familial hypercholesterolemia associated with severe hypoalphalipoproteinemia in a Moroccan family J Genet 86 2007 159 163
35. M.N. Slimane, S. Lestavel, and X. Sun Fh-Souassi: a founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families Atherosclerosis 154 2001 557 565
36. A. Jelassi, A. Slimani, and J.P. Rabes Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia Clin Chim Acta 414 2012 146 151
37. H.K. Jensen, L.G. Jensen, P.S. Hansen, O. Faergeman, and N. Gregersen An Iranian-Armenian LDLR frameshift mutation causing familial hypercholesterolemia Clin Genet 49 1996 88 90
38. M.A. Lehrman, W.J. Schneider, and M.S. Brown The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum J Biol Chem 262 1987 401 410
39. A. Jelassi, I. Jguirim, and M. Najah Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia Atherosclerosis 203 2009 449 453
40. K. Pahan Lipid-lowering drugs Cell Mol Life Sci 63 2006 1165 1178
41. P. Couture, and B. Lamarche Ezetimibe and bile acid sequestrants: impact on lipoprotein metabolism and beyond Curr Opin Lipidol 24 2013 227 232
42. M.M. Page, E.I. Ekinci, R.M. Jones, P.W. Angus, P.J. Gow, and R.C. O'Brien Liver transplantation for the treatment of homozygous familial hypercholesterolaemia in an era of emerging lipid-lowering therapies Intern Med J 44 2014 601 604
43. M. Khalifeh, W. Faraj, N. Heaton, M. Rela, and A.I. Sharara Successful living-related liver transplantation for familial hypercholesterolemia in the Middle East Transpl Int 17 2005 735 739
44. Z. Jalel, M. Sobhi, B.O. Skander, and K. Adel Redux valvular surgery with coronary artery bypass graft in familial hypercholesterolemia Ann Pediatr Cardiol 7 2014 61 63
45. A.A. Alkhateeb, H.H. Kassem, W.A. Wahba, and M.I. Algowhary Delayed diagnosis of familial hypercholesterolemia: a case report of two patients from Egypt J Clin Lipidol 7 2013 683 688
46. E. Hammond, G.F. Watts, and Y. Rubinstein Role of international registries in enhancing the care of familial hypercholesterolaemia Int J Evid Based Healthc 11 2013 134 139
47. E. Youngblom, and J.W. Knowles Familial hypercholesterolemia R.A. Pagon, M.P. Adam, T.D. Bird, GeneReviews(R) 1993 University of Washington Seattle (WA)
48. J. Leal, R. Luengo-Fernandez, A. Gray, S. Petersen, and M. Rayner Economic burden of cardiovascular diseases in the enlarged European Union Eur Heart J 27 2006 1610 1619
49. R.A. Hegele Plasma lipoproteins: genetic influences and clinical implications Nat Rev Genet 10 2009 109 121
50. B.G. Nordestgaard, M.J. Chapman, and S.E. Humphries 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 3490a
51. H.A. Neil, T. Hammond, R. Huxley, D.R. Matthews, and S.E. Humphries Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study BMJ 321 2000 148
52. A. Al-Sarraf, M. Allard, M. Martinka, and J. Frohlich Regional and national familial hypercholesterolemia registries: present international application, importance, and needs for Canada Can J Cardiol 29 2013 6 9
53. M.A. Umans-Eckenhausen, J.C. Defesche, E.J. Sijbrands, R.L. Scheerder, and J.J. Kastelein Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands Lancet 357 2001 165 168
54. J.G. Franke, and P.J. Lansberg Dutch national screening and disease management program for Familial Hypercholesterolemia (FH) - a model for Saudi Arabia? J Saudi Heart Assoc 21 2009 259 260
55. G.F. Watts, S. Gidding, and A.S. Wierzbicki Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation Int J Cardiol 171 2014 309 325
56. B.N. Datta, I.F. McDowell, and A. Rees Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia Curr Opin Lipidol 21 2010 366 371
57. R.M. Ned, and E.J. Sijbrands Cascade screening for familial hypercholesterolemia (FH) PLoS Curr 3 2011 RRN1238
58. E.C. O'Brien, M.T. Roe, and E.S. Fraulo 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
59. Identification and Management of Familial Hypercholesterolaemia (FH) 2008 National Collaborating Centre for Primary Care and Royal College of General Practitioners London
60. National Collaborating Centre for Primary C National Institute for Health and Clinical Excellence: Guidance. Identification and Management of Familial Hypercholesterolaemia (FH) 2008 Royal College of General Practitioners (UK)Royal College of General Practitioners. London
61. D. Marks, D. Wonderling, M. Thorogood, H. Lambert, S.E. Humphries, and H.A. Neil Screening for hypercholesterolaemia versus case finding for familial hypercholesterolaemia: a systematic review and cost-effectiveness analysis Health Technol Assess 4 2000 1 123
62. S. Wong, C. Taraboanta, G.A. Francis, A. Ignaszewski, and J. Frohlich The British Columbia Familial Hypercholesterolemia Registry BCMJ 55 2013 326 330
63. S.M. Farhan, and R.A. Hegele Exome sequencing: new insights into lipoprotein disorders Curr Cardiol Rep 16 2014 507
64. C.T. Johansen, J.B. Dube, and M.N. Loyzer LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias J Lipid Res 55 2014 765 772
65. R. Al Kindi, S. Al Rujaibi, and M. Al Kendi Knowledge and attitude of university students towards premarital screening program Oman Med J 27 2012 291 296
66. O.A. Al-Farsi, Y.M. Al-Farsi, I. Gupta, A. Ouhtit, K.S. Al-Farsi, and S. Al-Adawi A study on knowledge, attitude, and practice towards premarital carrier screening among adults attending primary healthcare centers in a region in Oman BMC Public Health 14 2014 380
67. F.M. Alswaidi, Z.A. Memish, and S.J. O'Brien At-risk marriages after compulsory premarital testing and counseling for beta-thalassemia and sickle cell disease in Saudi Arabia, 2005-2006 J Genet Couns 21 2012 243 255
68. M.A. El-Hazmi Pre-marital examination as a method of prevention from blood genetic disorders. Community views Saudi Med J 27 2006 1291 1295
69. S.S. Al Arrayed, and H. Al Premarital genetic counseling: a new law in the Kingdom of Bahrain Journal of Health, Social and Environmental Issues, Middle Sex University 6 2005 31 34
70. A. Samavat, and B. Modell Iranian national thalassaemia screening programme BMJ 329 2004 1134 1137
71. M. Zeinalian, R.F. Nobari, A. Moafi, M. Salehi, and M. Hashemzadeh-Chaleshtori Two decades of pre-marital screening for beta-thalassemia in central Iran J Community Genet 4 2013 517 522
72. M. Abi Saad, A.G. Haddad, and E.S. Alam Preventing thalassemia in Lebanon: successes and challenges in a developing country Hemoglobin 38 2014 308 311
73. J.C. Defesche Defining the challenges of FH screening for familial hypercholesterolemia J Clin Lipidol 4 2010 338 341
74. A.J. Newson, and S.E. Humphries Cascade testing in familial hypercholesterolaemia: how should family members be contacted? Eur J Hum Genet 13 2005 401 408