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Volumn 29, Issue 2, 2014, Pages 85-91

Criteria for diagnosis of familial hypercholesterolemia: A comprehensive analysis of the different guidelines, appraising their suitability in the Omani Arab population

Author keywords

Cascade screening; Dutch criteria; Familial hypercholesterolemia; Omani Arab population; Simon broome criteria; US medped criteria

Indexed keywords

LOW DENSITY LIPOPROTEIN CHOLESTEROL;

EID: 84897143538     PISSN: 1999768X     EISSN: 20705204     Source Type: Journal    
DOI: 10.5001/omj.2014.22     Document Type: Review
Times cited : (44)

References (34)
  • 1
    • 84864772507 scopus 로고    scopus 로고
    • Homozygous familial hypercholesterolemia: Current perspectives on diagnosis and treatment
    • Aug
    • Raal FJ, Santos RD. Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment. Atherosclerosis 2012 Aug;223(2):262-268.
    • (2012) Atherosclerosis , vol.223 , Issue.2 , pp. 262-268
    • Raal, F.J.1    Santos, R.D.2
  • 2
    • 0036860336 scopus 로고    scopus 로고
    • The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark
    • Nov
    • Jensen HK. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark. Dan Med Bull 2002 Nov;49(4):318-345.
    • (2002) Dan Med Bull , vol.49 , Issue.4 , pp. 318-345
    • Jensen, H.K.1
  • 3
    • 79956278397 scopus 로고    scopus 로고
    • Familial hypercholesterolemias: Prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
    • National Lipid Association Expert Panel on Familial Hypercholesterolemia. Jun
    • Hopkins PN, Toth PP, Ballantyne CM, Rader DJ; National Lipid Association Expert Panel on Familial Hypercholesterolemia. Familial hypercholesterolemias: prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011 Jun;5(3)(Suppl):S9-S17.
    • (2011) J Clin Lipidol , vol.5 , Issue.3 SUPPL.
    • Hopkins, P.N.1    Toth, P.P.2    Ballantyne, C.M.3    Rader, D.J.4
  • 4
    • 79958846829 scopus 로고    scopus 로고
    • Familial hypercholesterolemia: Epidemiology, Neolithic origins and modern geographic distribution
    • Jan-Feb
    • Liyanage KE, Burnett JR, Hooper AJ, van Bockxmeer FM. Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution. Crit Rev Clin Lab Sci 2011 Jan-Feb;48(1):1-18.
    • (2011) Crit Rev Clin Lab Sci , vol.48 , Issue.1 , pp. 1-18
    • Liyanage, K.E.1    Burnett, J.R.2    Hooper, A.J.3    van Bockxmeer, F.M.4
  • 5
    • 79956267846 scopus 로고    scopus 로고
    • Familial hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients: Clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
    • National Lipid Association Expert Panel on Familial Hypercholesterolemia. Jun
    • Goldberg AC, Hopkins PN, Toth PP, Ballantyne CM, Rader DJ, Robinson JG, et al; National Lipid Association Expert Panel on Familial Hypercholesterolemia. 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 Jun;5(3)(Suppl):S1-S8.
    • (2011) J Clin Lipidol , vol.5 , Issue.3 SUPPL.
    • Goldberg, A.C.1    Hopkins, P.N.2    Toth, P.P.3    Ballantyne, C.M.4    Rader, D.J.5    Robinson, J.G.6
  • 6
    • 51249096285 scopus 로고    scopus 로고
    • Familial hypercholesterolaemia: Summary of NICE guidance
    • Guideline Development Group
    • Wierzbicki AS, Humphries SE, Minhas R; Guideline Development Group. Familial hypercholesterolaemia: summary of NICE guidance. BMJ 2008;337:a1095.
    • (2008) BMJ , vol.337
    • Wierzbicki, A.S.1    Humphries, S.E.2    Minhas, R.3
  • 7
    • 84875963024 scopus 로고    scopus 로고
    • First case report of familial hypercholesterolemia in an Omani family due to novel mutation in the low-density lipoprotein receptor gene
    • May
    • Al-Hinai AT, Al-Abri A, Al-Dhuhli H, Al-Waili K, Al-Sabti H, Al-Yaarubi S, et al. First case report of familial hypercholesterolemia in an Omani family due to novel mutation in the low-density lipoprotein receptor gene. Angiology 2013 May;64(4):287-292.
    • (2013) Angiology , vol.64 , Issue.4 , pp. 287-292
    • Al-Hinai, A.T.1    Al-Abri, A.2    Al-Dhuhli, H.3    Al-Waili, K.4    Al-Sabti, H.5    Al-Yaarubi, S.6
  • 8
    • 0023239477 scopus 로고
    • Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia
    • Sep
    • Hobbs HH, Brown MS, Russell DW, Davignon J, Goldstein JL. Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia. N Engl J Med 1987 Sep;317(12):734-737.
    • (1987) N Engl J Med , vol.317 , Issue.12 , pp. 734-737
    • Hobbs, H.H.1    Brown, M.S.2    Russell, D.W.3    Davignon, J.4    Goldstein, J.L.5
  • 9
    • 0024558277 scopus 로고
    • Homozygous familial hypercholesterolemia among French Canadians in Québec Province
    • Mar-Apr
    • Moorjani S, Roy M, Gagné C, Davignon J, Brun D, Toussaint M, et al. Homozygous familial hypercholesterolemia among French Canadians in Québec Province. Arteriosclerosis 1989 Mar-Apr;9(2):211-216.
    • (1989) Arteriosclerosis , vol.9 , Issue.2 , pp. 211-216
    • Moorjani, S.1    Roy, M.2    Gagné, C.3    Davignon, J.4    Brun, D.5    Toussaint, M.6
  • 10
    • 0030871680 scopus 로고    scopus 로고
    • Geographic distribution of French-Canadian low-density lipoprotein receptor gene mutations in the Province of Quebec
    • Jul
    • Vohl MC, Moorjani S, Roy M, Gaudet D, Torres AL, Minnich A, et al. Geographic distribution of French-Canadian low-density lipoprotein receptor gene mutations in the Province of Quebec. Clin Genet 1997 Jul;52(1):1-6.
    • (1997) Clin Genet , vol.52 , Issue.1 , pp. 1-6
    • Vohl, M.C.1    Moorjani, S.2    Roy, M.3    Gaudet, D.4    Torres, A.L.5    Minnich, A.6
  • 11
    • 33645928247 scopus 로고    scopus 로고
    • Heterozygous familial hypercholesterolemia: An underrecognized cause of early cardiovascular disease
    • Apr
    • Yuan G, Wang J, Hegele RA. Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease. CMAJ 2006 Apr;174(8):1124-1129.
    • (2006) CMAJ , vol.174 , Issue.8 , pp. 1124-1129
    • Yuan, G.1    Wang, J.2    Hegele, R.A.3
  • 12
    • 0027421158 scopus 로고
    • South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population
    • Dec
    • Defesche JC, van Diermen DE, Lansberg PJ, Lamping RJ, Reymer PW, Hayden MR, et al. South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population. Hum Genet 1993 Dec;92(6):567-570.
    • (1993) Hum Genet , vol.92 , Issue.6 , pp. 567-570
    • Defesche, J.C.1    van Diermen, D.E.2    Lansberg, P.J.3    Lamping, R.J.4    Reymer, P.W.5    Hayden, M.R.6
  • 13
    • 0041743167 scopus 로고    scopus 로고
    • Monogenic hypercholesterolemia: New insights in pathogenesis and treatment
    • Jun
    • Rader DJ, Cohen J, Hobbs HH. Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J Clin Invest 2003 Jun;111(12):1795-1803.
    • (2003) J Clin Invest , vol.111 , Issue.12 , pp. 1795-1803
    • Rader, D.J.1    Cohen, J.2    Hobbs, H.H.3
  • 15
    • 56349147086 scopus 로고    scopus 로고
    • Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia
    • Dec
    • Kolansky DM, Cuchel M, Clark BJ, Paridon S, McCrindle BW, Wiegers SE, et al. Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia. Am J Cardiol 2008 Dec;102(11):1438-1443.
    • (2008) Am J Cardiol , vol.102 , Issue.11 , pp. 1438-1443
    • Kolansky, D.M.1    Cuchel, M.2    Clark, B.J.3    Paridon, S.4    McCrindle, B.W.5    Wiegers, S.E.6
  • 16
    • 4043093508 scopus 로고    scopus 로고
    • Current management of severe homozygous hypercholesterolaemias
    • Aug
    • Naoumova RP, Thompson GR, Soutar AK. Current management of severe homozygous hypercholesterolaemias. Curr Opin Lipidol 2004 Aug;15(4):413-422.
    • (2004) Curr Opin Lipidol , vol.15 , Issue.4 , pp. 413-422
    • Naoumova, R.P.1    Thompson, G.R.2    Soutar, A.K.3
  • 17
    • 52049109169 scopus 로고    scopus 로고
    • Cardiovascular disease in familial hypercholesterolaemia: Influence of low-density lipoprotein receptor mutation type and classic risk factors
    • Spanish Familial Hypercholesterolaemia Group. Oct
    • Alonso R, Mata N, Castillo S, Fuentes F, Saenz P, Muñiz O, et al; Spanish Familial Hypercholesterolaemia Group. Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors. Atherosclerosis 2008 Oct;200(2):315-321.
    • (2008) Atherosclerosis , vol.200 , Issue.2 , pp. 315-321
    • Alonso, R.1    Mata, N.2    Castillo, S.3    Fuentes, F.4    Saenz, P.5    Muñiz, O.6
  • 18
    • 9644287995 scopus 로고    scopus 로고
    • The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: Data in 2400 patients
    • Dec
    • 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 Dec;256(6):482-490.
    • (2004) J Intern Med , vol.256 , Issue.6 , pp. 482-490
    • Jansen, A.C.1    van Aalst-Cohen, E.S.2    Tanck, M.W.3    Trip, M.D.4    Lansberg, P.J.5    Liem, A.H.6
  • 19
    • 0025944056 scopus 로고
    • Risk of fatal coronary heart disease in familial hypercholesterolaemia
    • Scientific Steering Committee on behalf of the Simon Broome Register Group. Oct
    • Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ 1991 Oct;303(6807):893-896.
    • (1991) BMJ , vol.303 , Issue.6807 , pp. 893-896
  • 20
    • 0034856325 scopus 로고    scopus 로고
    • Medical informatics and health care in Oman
    • Sep-Oct
    • Dhar A. Medical informatics and health care in Oman. J Am Med Inform Assoc 2001 Sep-Oct;8(5):515-517.
    • (2001) J Am Med Inform Assoc , vol.8 , Issue.5 , pp. 515-517
    • Dhar, A.1
  • 21
    • 84873302752 scopus 로고    scopus 로고
    • Mutation in the PCSK9 Gene in Omani Arab Subjects with Autosomal Dominant Hypercholesterolemia and its Effect on PCSK9 Protein Structure
    • Jan
    • Al-Waili K, Al-Zidi WA, Al-Abri AR, Al-Rasadi K, Al-Sabti HA, Shah K, et al. Mutation in the PCSK9 Gene in Omani Arab Subjects with Autosomal Dominant Hypercholesterolemia and its Effect on PCSK9 Protein Structure. Oman Med J 2013 Jan;28(1):48-52.
    • (2013) Oman Med J , vol.28 , Issue.1 , pp. 48-52
    • Al-Waili, K.1    Al-Zidi, W.A.2    Al-Abri, A.R.3    Al-Rasadi, K.4    Al-Sabti, H.A.5    Shah, K.6
  • 22
    • 4444376916 scopus 로고    scopus 로고
    • Genetic causes of monogenic heterozygous familial hypercholesterolemia: A HuGE prevalence review
    • Sep
    • Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol 2004 Sep;160(5):407-420.
    • (2004) Am J Epidemiol , vol.160 , Issue.5 , pp. 407-420
    • Austin, M.A.1    Hutter, C.M.2    Zimmern, R.L.3    Humphries, S.E.4
  • 23
    • 79951610731 scopus 로고    scopus 로고
    • Treatment beliefs and attending follow-up visits in a lipid clinic
    • Feb
    • Elis A, Lishner M, Melamed S. Treatment beliefs and attending follow-up visits in a lipid clinic. Br J Health Psychol 2011 Feb;16(Pt 1):61-71.
    • (2011) Br J Health Psychol , vol.16 , Issue.PART 1 , pp. 61-71
    • Elis, A.1    Lishner, M.2    Melamed, S.3
  • 24
    • 84857094006 scopus 로고    scopus 로고
    • A Qualitative Study on the Attitudes and Beliefs towards Help Seeking for Emotional Distress in Omani Women and Omani General Practitioners: Implications for Post-Graduate Training
    • Jul
    • Al-Busaidi ZQ. A Qualitative Study on the Attitudes and Beliefs towards Help Seeking for Emotional Distress in Omani Women and Omani General Practitioners: Implications for Post-Graduate Training. Oman Med J 2010 Jul;25(3):190-198.
    • (2010) Oman Med J , vol.25 , Issue.3 , pp. 190-198
    • Al-Busaidi, Z.Q.1
  • 25
    • 84876350157 scopus 로고    scopus 로고
    • The impact of next-generation sequencing technology on preimplantation genetic diagnosis and screening
    • Mar
    • Martín J, Cervero A, Mir P, Martinez-Conejero JA, Pellicer A, Simón C. The impact of next-generation sequencing technology on preimplantation genetic diagnosis and screening. Fertil Steril 2013 Mar;99(4):1054-1061, e3.
    • (2013) Fertil Steril , vol.99 , Issue.4
    • Martín, J.1    Cervero, A.2    Mir, P.3    Martinez-Conejero, J.A.4    Pellicer, A.5    Simón, C.6
  • 26
    • 0027301629 scopus 로고
    • Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics
    • Jul
    • Williams RR, Hunt SC, Schumacher MC, Hegele RA, Leppert MF, Ludwig EH, et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol 1993 Jul;72(2):171-176.
    • (1993) Am J Cardiol , vol.72 , Issue.2 , pp. 171-176
    • Williams, R.R.1    Hunt, S.C.2    Schumacher, M.C.3    Hegele, R.A.4    Leppert, M.F.5    Ludwig, E.H.6
  • 27
    • 11144355236 scopus 로고    scopus 로고
    • Seasonal variation in serum cholesterol levels: Treatment implications and possible mechanisms
    • Apr
    • Ockene IS, Chiriboga DE, Stanek EJ III, Harmatz MG, Nicolosi R, Saperia G, et al. Seasonal variation in serum cholesterol levels: treatment implications and possible mechanisms. Arch Intern Med 2004 Apr;164(8):863-870.
    • (2004) Arch Intern Med , vol.164 , Issue.8 , pp. 863-870
    • Ockene, I.S.1    Chiriboga, D.E.2    Stanek III, E.J.3    Harmatz, M.G.4    Nicolosi, R.5    Saperia, G.6
  • 28
    • 1642366131 scopus 로고    scopus 로고
    • Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands
    • Feb
    • Wonderling D, Umans-Eckenhausen MA, Marks D, Defesche JC, Kastelein JJ, Thorogood M. Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands. Semin Vasc Med 2004 Feb;4(1):97-104.
    • (2004) Semin Vasc Med , vol.4 , Issue.1 , pp. 97-104
    • Wonderling, D.1    Umans-Eckenhausen, M.A.2    Marks, D.3    Defesche, J.C.4    Kastelein, J.J.5    Thorogood, M.6
  • 29
    • 0035915685 scopus 로고    scopus 로고
    • Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands
    • Jan
    • Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ, Scheerder RL, Kastelein JJ. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet 2001 Jan;357(9251):165-168.
    • (2001) Lancet , vol.357 , Issue.9251 , pp. 165-168
    • Umans-Eckenhausen, M.A.1    Defesche, J.C.2    Sijbrands, E.J.3    Scheerder, R.L.4    Kastelein, J.J.5
  • 30
    • 1642364524 scopus 로고    scopus 로고
    • Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: Results from a family-based screening program
    • Feb
    • Leren TP, Manshaus T, Skovholt U, Skodje T, Nossen IE, Teie C, et al. Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. Semin Vasc Med 2004 Feb;4(1):75-85.
    • (2004) Semin Vasc Med , vol.4 , Issue.1 , pp. 75-85
    • Leren, T.P.1    Manshaus, T.2    Skovholt, U.3    Skodje, T.4    Nossen, I.E.5    Teie, C.6
  • 31
    • 1642296165 scopus 로고    scopus 로고
    • Familial hypercholesterolemia in Spain: Case-finding program, clinical and genetic aspects
    • Feb
    • Pocovi M, Civeira F, Alonso R, Mata P. Familial hypercholesterolemia in Spain: case-finding program, clinical and genetic aspects. Semin Vasc Med 2004 Feb;4(1):67-74.
    • (2004) Semin Vasc Med , vol.4 , Issue.1 , pp. 67-74
    • Pocovi, M.1    Civeira, F.2    Alonso, R.3    Mata, P.4
  • 32
    • 78649680360 scopus 로고    scopus 로고
    • Preventing cardiovascular disease: A review of the effectiveness of identifying the people with familial hypercholesterolaemia in New Zealand
    • Nov
    • Muir LA, George PM, Laurie AD, Reid N, Whitehead L. Preventing cardiovascular disease: a review of the effectiveness of identifying the people with familial hypercholesterolaemia in New Zealand. N Z Med J 2010 Nov;123(1326):97-102.
    • (2010) N Z Med J , vol.123 , Issue.1326 , pp. 97-102
    • Muir, L.A.1    George, P.M.2    Laurie, A.D.3    Reid, N.4    Whitehead, L.5
  • 33
    • 70249111091 scopus 로고    scopus 로고
    • Targeted capture and massively parallel sequencing of 12 human exomes
    • Sep
    • Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009 Sep;461(7261):272-276.
    • (2009) Nature , vol.461 , Issue.7261 , pp. 272-276
    • Ng, S.B.1    Turner, E.H.2    Robertson, P.D.3    Flygare, S.D.4    Bigham, A.W.5    Lee, C.6
  • 34
    • 84881533073 scopus 로고    scopus 로고
    • Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology
    • Craigen WJ, Graham BH, Wong LJ, Scaglia F, Lewis RA, Bonnen PE. Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet 2013;14:83.
    • (2013) BMC Med Genet , vol.14 , pp. 83
    • Craigen, W.J.1    Graham, B.H.2    Wong, L.J.3    Scaglia, F.4    Lewis, R.A.5    Bonnen, P.E.6


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