Rapid identification of familial hypercholesterolemia from electronic health records: The SEARCH study

Journal of Clinical Lipidology

Volumn 10, Issue 5, 2016, Pages 1230-1239

  Safarova, Maya S ^a   Liu, Hongfang ^a   Kullo, Iftikhar J ^a  

^a MAYO CLINIC   (United States)

Author keywords

Awareness; Control; eEpidemiology; Electronic health records; Electronic phenotyping; Familial hypercholesterolemia; Hypercholesterolemia; Informatics; Prevalence; Screening

Indexed keywords

ANTILIPEMIC AGENT; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL;

ADULT; ALGORITHM; ARTICLE; CROSS-SECTIONAL STUDY; ELECTRONIC HEALTH RECORD; EMPLOYEE; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY HISTORY; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; NATURAL LANGUAGE PROCESSING; PHYSICAL EXAMINATION; PREDICTIVE VALUE; PREVALENCE; PRIMARY MEDICAL CARE; PRIORITY JOURNAL; SCREENING; UNITED STATES; AGED; BLOOD; FACTUAL DATABASE; HYPERLIPOPROTEINEMIA TYPE II; PHENOTYPE;

ADULT; AGED; ALGORITHMS; CHOLESTEROL, LDL; DATABASES, FACTUAL; ELECTRONIC HEALTH RECORDS; FEMALE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; PHENOTYPE; PREVALENCE; TRIGLYCERIDES;

EID: 84994128046     PISSN: 19332874     EISSN: 18764789     Source Type: Journal    
DOI: 10.1016/j.jacl.2016.08.001     Document Type: Article

References (52)

1. 1 Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Scientific Steering Committee on behalf of the Simon Broome Register Group. Atherosclerosis 142 (1999), 105–112.
2. 2 Austin, M.A., Hutter, C.M., Zimmern, R.L., Humphries, S.E., Familial hypercholesterolemia and coronary heart disease: a HuGE association review. Am J Epidemiol 160 (2004), 421–429.
3. 3 Green, R.F., Dotson, W.D., Bowen, S., et al. Genomics in public health: perspective from the Office of Public Health Genomics at the Centers for Disease Control and Prevention (CDC). Healthcare (Basel) 3:3 (2015), 830–837.
4. 4 Watts, G.F., Lewis, B., Sullivan, D.R., Familial hypercholesterolemia: a missed opportunity in preventive medicine. Nat Clin Pract Cardiovasc Med 4 (2007), 404–405.
5. 5 Teslovich, T.M., Musunuru, K., Smith, A.V., et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466 (2010), 707–713.
6. 6 Futema, M., Plagnol, V., Li, K., et al. Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations. J Med Genet 51 (2014), 537–544.
7. 7 Raal, F.J., Stein, E.A., Dufour, R., et al. PCSK9 inhibition with evolocumab (AMG 145) in heterozygous familial hypercholesterolaemia (RUTHERFORD-2): a randomised, double-blind, placebo-controlled trial. Lancet 385 (2015), 331–340.
8. 8 Kastelein, J.J., Robinson, J.G., Farnier, M., et al. Efficacy and safety of alirocumab in patients with heterozygous familial hypercholesterolemia not adequately controlled with current lipid-lowering therapy: design and rationale of the ODYSSEY FH studies. Cardiovasc Drugs Ther 28 (2014), 281–289.
9. 9 Cuchel, M., Meagher, E.A., du Toit Theron, H., 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.
10. 10 Santos, R.D., Duell, P.B., East, C., et al. Long-term efficacy and safety of mipomersen in patients with familial hypercholesterolaemia: 2-year interim results of an open-label extension. Eur Heart J 36 (2015), 566–575.
11. 11 Goldstein, J.L., Schrott, H.G., Hazzard, W.R., Bierman, E.L., Motulsky, A.G., Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest 52 (1973), 1544–1568.
12. 12 Safarova, M.S., Kullo, I.J., My Approach to the Patient With Familial Hypercholesterolemia. Mayo Clin Proc 91 (2016), 770–786.
13. 13 Benn, M., Watts, G.F., Tybjaerg-Hansen, A., Nordestgaard, B.G., Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. J Clin Endocrinol Metab 97 (2012), 3956–3964.
14. 14 Lahtinen, A.M., Havulinna, A.S., Jula, A., Salomaa, V., Kontula, K., Prevalence and clinical correlates of familial hypercholesterolemia founder mutations in the general population. Atherosclerosis 238 (2015), 64–69.
15. 15 Sjouke, B., Kusters, D.M., Kindt, I., et al. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome. Eur Heart J 36 (2015), 560–565.
16. 16 de Ferranti, S.D., Rodday, A.M., Mendelson, M.M., Wong, J.B., Leslie, L.K., Sheldrick, R.C., Prevalence of Familial Hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES). Circulation 133 (2016), 1067–1072.
17. 17 Nordestgaard, B.G., Chapman, M.J., Humphries, S.E., 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), 3478–3490a.
18. 18 Neil, H.A., Hammond, T., Huxley, R., Matthews, D.R., Humphries, S.E., Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study. BMJ, 321, 2000, 148.
19. 19 Vodnala, D., Rubenfire, M., Brook, R.D., Secondary causes of dyslipidemia. Am J Cardiol 110 (2012), 823–825.
20. 20 World Health Organization. Familial hypercholesterolemia: report of a second WHO Consultation. 1999, World Health Organization, Geneva, Switzerland WHO publication No. WHO/HGN/FH/CONS/99.2.
21. 21 International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) 2008 U.S. Dept. of Health and Human Services, Centers for Disease Control and Prevention, Centers for Medicare and Medicaid Services. International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM). Available at: http://www.cdc.gov/nchs/icd/icd9cm.htm. Assessed September 2015.
22. 22 Association. A.M. CPT Physicians’ current procedural terminology. Chicago: American Medical Association. 1997–2008.
23. 23 Kullo, I.J., Fan, J., Pathak, J., Savova, G.K., Ali, Z., Chute, C.G., Leveraging informatics for genetic studies: use of the electronic medical record to enable a genome-wide association study of peripheral arterial disease. J Am Med Inform Assoc 17 (2010), 568–574.
24. 24 Gottesman, O., Kuivaniemi, H., Tromp, G., et al. The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Genet Med 15 (2013), 761–771.
25. 25 Liu, H., Bielinski, S.J., Sohn, S., et al. An Information Extraction Framework for Cohort Identification Using Electronic Health Records. AMIA Jt Summits Transl Sci Proc 2013 (2013), 149–153.
26. 26 Ferrucci, D., Lally, A., UIMA: an architectural approach to unstructured information processing in the corporate research environment. Nat Lang Eng 10 (2004), 327–348.
27. 27 Harkema, H., Dowling, J.N., Thornblade, T., Chapman, W.W., ConText: an algorithm for determining negation, experiencer, and temporal status from clinical reports. J Biomed Inform 42 (2009), 839–851.
28. 28 Savova, G.K., Masanz, J.J., Ogren, P.V., et al. Mayo clinical Text Analysis and Knowledge Extraction System (cTAKES): architecture, component evaluation and applications. J Am Med Inform Assoc 17 (2010), 507–513.
29. 29 Wu, S.T., Sohn, S., Ravikumar, K.E., et al. Automated chart review for asthma cohort identification using natural language processing: an exploratory study. Ann Allergy Asthma Immunol 111 (2013), 364–369.
30. 30 Mehrabi, S., Krishnan, A., Roch, A.M., et al. Identification of Patients with Family History of Pancreatic Cancer - Investigation of an NLP System Portability. Stud Health Technol Inform 216 (2015), 604–608.
31. 31 Mehrabi, S., Krishnan, A., Roch, A., et al. Identification of Patients with Family History of Pancreatic Cancer - Investigation of an NLP system Portability. 2015, MEDINFO, São Paulo, Brazil.
32. 32 Chapman, W.W., Bridewell, W., Hanbury, P., Cooper, G.F., Buchanan, B.G., Evaluation of negation phrases in narrative clinical reports. Proc AMIA Symp, 2001, 105–109.
33. 33 R Core Team. R: A language and environment for statistical computing. 2014, R Foundation for Statistical Computing, Vienna, Austria Available at: http://www.R-project.org/.
34. 34 Benn, M., Watts, G.F., Tybjaerg-Hansen, A., Nordestgaard, B.G., Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217. Eur Heart J 37 (2016), 1384–1394.
35. 35 Hopkins, P.N., Toth, P.P., Ballantyne, C.M., Rader, D.J., 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.
36. 36 Goldberg, A.C., Hopkins, P.N., Toth, P.P., 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), S1–S8.
37. 37 Civeira, F., Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. Atherosclerosis 173 (2004), 55–68.
38. 38 Huijgen, R., Vissers, M.N., Defesche, J.C., Lansberg, P.J., Kastelein, J.J., Hutten, B.A., Familial hypercholesterolemia: current treatment and advances in management. Expert Rev Cardiovasc Ther 6 (2008), 567–581.
39. 39 Versmissen, J., Oosterveer, D.M., Yazdanpanah, M., et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. BMJ, 337, 2008, a2423.
40. 40 O'Brien, E.C., Roe, M.T., Fraulo, E.S., 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.e17.
41. 41 O'Brien, E.C., DeGoma, E., Moriarty, P., et al. Initial results from the CASCADE-FH registry: cascade screening for awareness and detection of familial hypercholesterolemia. J Am Coll Cardiol, 65, 2015, A1372.
42. 42 deGoma, E.M., Ahmad, Z.S., O'Brien, E., et al. LDL-C Levels and Treatment Patterns Among Adults With Heterozygous Familial Hypercholesterolemia in the United States: Data From the CASCADE-FH Registry. Circulation, 132, 2015, A12169.
43. 43 American College of Cardiology. Familial Hypercholesterolemia: Cardiologist and Patient Perspectives. Available at: http://www.acc.org/membership/member-benefits-and-resources/acc-member-publications/cardiosurve/newsletter/archive/2012/07/familial%20hypercholesterolemia%20cardiologist%20and%20patient%20perspectives. Assessed November 2015.
44. 44 Bell, D.A., Garton-Smith, J., Vickery, A., et al. Familial hypercholesterolaemia in primary care: knowledge and practices among general practitioners in Western Australia. Heart Lung Circ 23 (2014), 309–313.
45. 45 Fan, J., Arruda-Olson, A.M., Leibson, C.L., et al. Billing code algorithms to identify cases of peripheral artery disease from administrative data. J Am Med Inform Assoc 20 (2013), e349–e354.
46. 46 Newton, K.M., Peissig, P.L., Kho, A.N., et al. Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network. J Am Med Inform Assoc 20 (2013), e147–e154.
47. 47 Aspry, K.E., Furman, R., Karalis, D.G., et al. Effect of health information technology interventions on lipid management in clinical practice: a systematic review of randomized controlled trials. J Clin Lipidol 7 (2013), 546–560.
48. 48 Sidebottom, A.C., Johnson, P.J., VanWormer, J.J., Sillah, A., Winden, T.J., Boucher, J.L., Exploring electronic health records as a population health surveillance tool of cardiovascular disease risk factors. Popul Health Manag 18 (2015), 79–85.
49. 49 Moja, L., Kwag, K.H., Lytras, T., et al. Effectiveness of computerized decision support systems linked to electronic health records: a systematic review and meta-analysis. Am J Public Health 104 (2014), e12–e22.
50. 50 Thompson, G., O'Horo, J.C., Pickering, B.W., Herasevich, V., Impact of the Electronic Medical Record on Mortality, Length of Stay, and Cost in the Hospital and ICU: A Systematic Review and Metaanalysis. Crit Care Med 43 (2015), 1276–1282.
51. 51 Damgaard, D., Larsen, M.L., Nissen, P.H., et al. The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population. Atherosclerosis 180 (2005), 155–160.
52. 52 Yoon, P.W., Scheuner, M.T., Jorgensen, C., Khoury, M.J., Developing Family Healthware, a family history screening tool to prevent common chronic diseases. Prev Chronic Dis, 6, 2009, A33.