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Chapter 44 - Thrombophilias

from Section 5 - Disorders Involving Abnormal Coagulation

Published online by Cambridge University Press:  15 June 2018

By
Ealaf Al Rabia  and
Bruce M. Coull
Edited by
Louis Caplan  and
José Biller
Louis Caplan
Affiliation:
Beth Israel-Deaconess Medical Center, Boston
José Biller
Affiliation:
Loyola University Stritch School of Medicine, Chicago
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Uncommon Causes of Stroke , pp. 336 - 346
Publisher: Cambridge University Press
Print publication year: 2018

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References

Mannucci, PM. Laboratory detection of inherited thrombophilia: A historical perspective. Semin Thromb Hemost 2005; 32: 5–10.Google Scholar
Ma, K, Wells, P, Guzman, C, et al. A multicenter prospective study of risk factors and treatment of unusual site thrombosis. Thromb Res 2016; 144: 100–5.Google Scholar
Guria, K, Guria, GT. Spatial aspects of blood coagulation: Two decades of the self-sustained traveling wave of thrombin. Thromb Res 2015; 135: 423–33.Google Scholar
Boilard, E, Duchez, A-C, Brisson, A. The diversity of platelet microparticles. Curr Opin Hematol 2015; 22: 437–44.Google Scholar
van Roos, M-J, Pretorius, E. Metabolic syndrome, platelet activation and development of transient ischemic attack or thromboembolic stroke. Thromb Res 2015; 135: 434–42.Google Scholar
Yau, JW, Teoh, H, Verma, S. Endothelial control of thrombosis. BMC Cardiovasc Disord 2015; 15: 130.Google Scholar
van Hinsbergh, VWM. Endothelium: Role in regulation of coagulation and inflammation. Semin Immunopathol 2012; 34: 93–106.Google Scholar
Tjarnlund-Wolf, A, Brogren, H, Lo, EH, Wang, X. Plasminogen activator inhibitor-1 and thrombotic cerebrovascular diseases. Stroke 2012; 43: 2833–9.Google Scholar
Aleman, MM, Walton, BL, Byrnes, JR, Wolberg, AS. Fibrinogen and red blood cells in venous thrombosis. Thromb Res 2014; 133: S38–40.Google Scholar
Davies, PF. Hemodynamic shear stress and the endothelium in cardiovascular pathophysiology. Nat Clin Pract Cardiovasc Med 2009; 6: 16–26.Google Scholar
Wardlaw, JW, Smith, C, Dichgans, M. Mechanisms underlying sporadic cerebral small vessel disease: Insights from neuroimaging. Lancet Neurol 2013; 12: 483–97.Google Scholar
Fisher, CM. Cerebral military aneurysms in hypertension. Am J Pathol 1972; 66: 313–30.Google Scholar
Fisher, MJ. Brain regulation of thrombosis and hemostasis: From theory to practice. Stroke 2013; 44: 3275–85.Google Scholar
Szymanska, M, Alhenc-Gelas, M, Undas, A. Recurrent ischemic cerebrovascular events in a patient with type I antithrombin deficiency caused by 9788 G>A splice site mutation: A case report. Blood Coag Fibrinol 2013; 24: 213–15.Google Scholar
Kovac, M, Mitic, G, Mikovic, Z, et al. Pregnancy related stroke in the setting of homozygous type-II HBS antithrombin deficiency. Thromb Res 2016; 139: 111–13.Google Scholar
Kuhle, S, Lane, DA, Jochmanns, K, et al. Homozygous antithrombin deficiency type II (99 Leu to Phe mutation) and childhood thromboembolism. Thromb Haemost 2001; 86: 1007–11.Google Scholar
Knuiman, MW, Folsom, AR, Chambles, LE, Liao, D, Wu, KK. Association of hemostatic variables with MRI-detected cerebral abnormalities: The atherosclerosis risk in communities study. Neuroepidemiology 2001; 20: 96–104.Google Scholar
de Lau, LML, Leebeek, FWG, de Maat, MPM, Koudstaal, PJ, Dippel, DWJ. A review of hereditary and acquired coagulation disorders in the aetiology of ischaemic stroke. Int J Stroke 2010; 5: 385–94.Google ScholarPubMed
Stam, J. Thrombosis of the cerebral veins and sinuses. N Engl J Med 2005; 352: 1791–98.Google Scholar
Kujovich, JC. Factor V Leiden thrombophilia. Genet Med 2011; 13: 1–16.Google Scholar
Mumford, AD, McVey, JH, Morse, CV, et al. Factor V I359T: A novel mutation associated with thrombosis and resistance to activated protein C. Br J Haematol 2003; 123: 496–501.CrossRefGoogle ScholarPubMed
Chan, WP, Lee, CK, Kwong, YL, Lam, CK, Liang, R. A novel mutation of Arg306 of factor V gene in Hong Kong Chinese. Blood 1998; 91: 1135–9.Google Scholar
Lalouschek, W, Schillinger, M, Hsieh, K, et al. Matched case–control study on factor V Leiden and the prothrombin G20210A mutation in patients with ischemic stroke/transient ischemic attack up to the age of 60 years. Stroke 2005; 36: 1405–1409.Google Scholar
Tofler, GH, Massaro, J, O’Donnell, CJ, et al. Plasminogen activator inhibitor and risk for cardiovascular disease: The Framingham Heart Study. Thromb Res 2016; 140: 30–5.Google Scholar
Nave, AH, Lange, KS, Leonards, CO, et al. Lipoprotein (a) as a risk factor for ischemic stroke: A meta-analysis. Atherosclerosis 2015; 242: 496–503.Google Scholar
Jiang, B, Ryan, KA, Hamedani, A, et al. Prothrombin G20210A mutation is associated with young-onset stroke. Stroke 2014; 45: 961–7.Google Scholar
Lonn, E, Yusuf, S, Arnold, MJO, et al. Homocysteine lowering with folic acid and B vitamins in vascular disease. N Engl J Med 2006; 354: 1567–77.Google Scholar
Nah, H-W, Kim, JS. Premature intracranial arterial calcification in a patient with hyperhomocysteinemia. Neurology 2010; 75: 2252.Google Scholar
Saposnik, G, Ray, JG, Sheridan, P, et al. Homocysteine-lowering therapy and stroke risk, severity, and disability: Additional findings from the HOPE 2 trial. Stroke 2009; 40: 1365–72.Google Scholar
Hankey, GJ, Eikelboom, JW, Yi, Q, et al. Antiplatelet therapy and the effects of B vitamins in patients with previous stroke or transient ischaemic attack: A post-hoc subanalysis of VITATOPS, a randomised, placebo-controlled trial. Lancet Neurol 2012; 11: 512–20.Google Scholar
George, JN, Nester, CM. Syndromes of thrombotic microangiopathy. New Eng J Med 2014; 371: 654–66.Google Scholar
Shen, YM. Clinical evaluation of thrombotic microangiopathy: Identification of patients with suspected atypical hemolytic uremic syndrome. Thromb J 2016; 14: 19.Google Scholar
Kavanagh, D, McGlasson, S, Jury, A, et al. Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature. Blood 2016; 128: 2824–33.Google Scholar
Al-Nouri, ZL, Reese, JA, Terrell, DR, et al. Drug-induced thrombotic microangiopathy: A systematic review of published reports. Blood 2015; 125: 616–18.Google Scholar
Luzzatto, L. Recent advances in the pathogenesis and treatment of paroxysmal nocturnal hemoglobinuria. F1000Research 2016, doi: 10.12688/f1000research.7288.1.Google Scholar
de Latour, RP, Mary, JY, Salanoubat, C, et al. Paroxysmal nocturnal hemoglobinuria: Natural history of disease subcategories. Blood 2008; 112: 3099–106.Google Scholar
Meppiel, E, Crassard, J, de Latour, RP, et al. Cerebral venous thrombosis in paroxysmal nocturnal hemoglobinuria. Medicine 2015; 94: 1–8.Google Scholar
Helley, D, de Latour, RP, Porcher, R, et al. Evaluation of hemostasis and endothelial function in patients with paroxysmal nocturnal hemoglobinuria receiving eculizumab. Haematologica 2010; 95: 574–81.Google Scholar
DeZern, AE, Brodsky, RA. Paroxysmal nocturnal hemoglobinuria. Hematolol Oncol Clin North Am 2015; 29: 479–94.Google Scholar
Artoni, A, Bucciarelli, P, Martinelli I. Cerebral thrombosis and myeloproliferative neoplasms. Curr Neurol Neurosci Rep 2014; 14: 496.Google Scholar
Crespo, AM, Abraira, L, Guanyabens, N, et al. Recurrent stroke with rapid development of intracranial stenosis in polycythemia vera. J Stroke Cerebrovasc Dis 2016; 25: e41–3.Google Scholar
Tanashyan, MM, Kuznetsova, PI, Shabalina, AA, et al. Clinical characteristics of cerebrovascular pathology with patients suffering from Ph-negative myeloproliferative disease. Cerebrovascular Diseases Extra 2016; 6: 66–70.Google Scholar
Khandelwal, S, Arepally, GM. Immune pathogenesis of heparin-induced thrombocytopenia. Thromb Haemost 2016; 116: 792–8.Google Scholar
Itaabashi, R, Yazawa, Y, Kawata, K, et al. Paradoxical brain emboli related to heparin-induced thrombocytopenia after catheter ablation. J Stroke Cerebrovasc Dis 2015; 24: e219–21.Google Scholar
Cundiff, DK. Anticoagulants for cerebral venous thrombosis. Stroke 2014; 45: 298–304.Google Scholar
Warkentin, TE. Clinical picture of heparin-induced thrombocytopenia (HIT) and its differentiation from non-HIT thrombocytopenia. Thromb Haemost 2016; 116: 813–22.Google Scholar
Centers for Disease Control and Prevention. Reproductive health: Pregnancy mortality surveillance system. http://www.cdc.gov/reproductivehealth/maternalinfanthealth/PMSS.html. Published 2014. Accessed July 18, 2015.Google Scholar
Simcox, LE, Ormesher, L, Tower, C, Greer, IA. Thrombophilia and pregnancy complications. Int J Mol Sci 2015; 16: 28418–28.Google Scholar
Kamel, H, Navi, BB, Sriram, N, et al. Risk of a thrombotic event after the 6-week postpartum period. N Engl J Med 2014; 370: 1307–15.Google Scholar
Lockwood, C, Wendel, G. Practice bulletin no. 124: Inherited thrombophilias in pregnancy. Obstet Gynecol 2011; 118: 730–40.Google Scholar
Centers for Disease Control and Prevention. WISQARS Database. Twenty Leading Causes of Death by Age Group, United States 2010. Available online at: http://www.cdc.gov/Injury/wisqars/.Google Scholar
Roach, ES, Golomb, MR, Adams, R, et al. Management of stroke in infants and children: A scientific statement from a special writing group of the American Heart Association Stroke Council and the Council on Cardiovascular Disease in the Young. Stroke 2008; 39: 2644–91.Google Scholar
Amlie-Ledfond, C, Sebire, G, Fullerton, HJ. Recent developments in childhood arterial ischemic stroke. Lancet Neurol 2008; 7: 425.Google Scholar
Mackay, MT, Wiznitzer, M, Benedict, SL, et al. Arterial ischemic stroke risk factors: The International Pediatric Stroke Study. Ann Neurol 2011; 69: 130–40.Google Scholar
Schmidt, B, Andrew, M. Neonatal thrombosis: Report of a prospective Canadian and international registry. Pediatrics 1995; 96: 939–43.Google Scholar
Andrew, M, David, M, Adams, M, et al. Venous thromboembolic complications (VTE) in children: First analyses of the Canadian Registry of VTE. Blood 1994; 83: 1251–7.Google Scholar
Shroff, M, deVeber, G. Sinovenous thrombosis in children. Neuroimaging Clin N Am 2003; 13: 115–38.Google Scholar
deVeber, G, Andrew, M, Adams, C, et al. Cerebral sinovenous thrombosis in children. N Engl J Med 2001; 345: 417–23.Google Scholar
Mallick, AA, Ganesan, V, Kirkham, FJ, et al. Childhood arterial ischaemic stroke incidence, presenting features, and risk factors: A prospective population-based study. Lancet Neurol 2014; 13: 35–43.Google Scholar
Kenet, Gili, Aronis, S, Berkun, Y, et al. Impact of thrombophilia on risk of arterial ischemic stroke or cerebral sinovenous thrombosis in neonates and children a systematic review and meta-analysis of observational studies. Circulation 2010; 121: 1838–47.Google Scholar
Yang, JYK, Chan, AKC. Pediatric thrombophilia. Pediatr Clin N Am 2013; 60: 1443–62.Google Scholar
Monagle, P, Adams, M, Mahoney, M, et al. Outcome of pediatric thromboembolic disease: A report from the Canadian Childhood Thrombophilia Registry. Pediatr Res 2000; 47: 763–6.Google Scholar
Chalmers, EA. Epidemiology of venous thromboembolism in neonates and children. Thromb Res 2006; 118: 3–12.Google Scholar

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