An Uncommon Severe Case of Pulmonary Hypertension - From Genetic Testing to Benefits of Home Anticoagulation Monitoring

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A 62 year-old caucasian male was admitted in our pulmonary hypertension expert center with initial diagnosis of pulmonary veno-occlusive disease for validation and specific treatment approach. Routine examinations revealed no apparent cause of pulmonary hypertension. Patient was referred for a thorax contrast enhanced multi-slice computed tomography which revealed extensive bilateral thrombi in pulmonary lower lobe arteries, pleading for chronic post embolic lesions. A right heart catheterization and pulmonary angiography confirmed the diagnosis of chronic thromboembolic pulmonary hypertension (CTEPH). Following the local regulations, the patient underwent thrombophilia screening including molecular genetic testing, with positive findings for heterozygous for VCORK1 -1639G>A gene single nucleotide polymorphism, PAI-1 4G/5G and factor II G20210A gene. With heterozygous genetic profile of 3 mutations he has a genetic predisposition for developing a thrombophilic disease which could be involved in the etiology of CTEPH. Familial screening was extended to descendants; the unique son was tested with positive results for the same three genes. Supportive pulmonary hypertension drug therapy was initiated together with patient self-monitoring management of oral anticoagulation therapy. For optimal control of targeted anticoagulation due to a very high risk of thrombotic state the patient used a point-of-care device (CoaguChek®XS System, Roche Diagnostics) for coagulation self-monitoring.

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  • 1. Galiè N Humbert M Vachiery JL et al. 2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS) Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC) International Society for Heart and Lung Transplantation (ISHLT). Eur Heart J. 2015;67-119

  • 2. Matthews DT Hemnes AR. Current concepts in the pathogenesis of chronic thromboembolic pulmonary hypertension. Pulm Circ. 2016;6(2):145-54

  • 3. Wolf M Boyer-Neumann C Parent F et al. Thrombotic risk factors in pulmonary hypertension. Eur Respir J 2000;15: 395–9.

  • 4. Bonderman D Turecek PL Jakowitsch J et al. High prevalence of elevated clotting factor VIII in chronic thromboembolic pulmonary hypertension. Thromb Haemost 2003;90:372–6

  • 5. Lang I Kerr K. Risk Factors for Chronic Thromboembolic Pulmonary Hypertension. Proc Am Thorac Soc 2006;3(7):568–70

  • 6. Pepke-Zabka J Jansa P Kim NH et al. Chronic thromboembolic pulmonary hypertension: role of medical therapy. Eur Respir J 2013;41:985–90

  • 7. Lang IM Pesavento R Bonderman D Yuan JX. Risk factors and basic mechanisms of chronic thromboembolic pulmonary hypertension: a current understanding. Eur Respir J 2013;41(2):462–8

  • 8. Fedullo PF Auger WR Kerr KM et al. Chronic thromboembolic pulmonary hypertension. N Engl J Med 2001;345(20):1465–72

  • 9. Mayer E Jenkins D Lindner J et al. Surgical management and outcome of patients with chronic thromboembolic pulmonary hypertension: results from an international prospective registry. J Thorac Cardiovasc Surg 2011;141(3):702-10

  • 10. Jamieson SW Kapelanski DP Sakakibara N et al. Pulmonary endarterectomy: experience and lessons learned in 1500 cases. Ann Thorac Surg 2003;76(5):1457–62

  • 11. Ghofrani HA D’Armini AM Grimminger F et al. Riociguat for the treatment of chronic thromboembolic pulmonary hypertension. N Engl J Med. 2013; 369(4): 319-29

  • 12. Satoh T Kataoka M Inami T et al. Endovascular treatment for chronic pulmonary hypertension: a focus on angioplasty for chronic thromboembolic pulmonary hypertension. Expert Rev Cardiovasc Ther. 2016;14(9):1089-94

  • 13. He J Fang W Lv B et al. Diagnosis of chronic thromboembolic pulmonary hypertension: comparison of ventilation/perfusion scanning and multidetector computed tomography pulmonary angiography with pulmonary angiography. Nucl Med Commun 2012;33:459–63

  • 14. Lang IM Plank C Sadushi-Kolici R et al. Imaging in pulmonary hypertension. JACC Cardiovasc Imaging 2010;3:1287–95

  • 15. Li Y Zhu J Ding JQ. VKORC1 rs2359612 and rs9923231 polymorphisms correlate with high risks of cardiovascular and cerebrovascular diseases. Genet Mol Res. 2015;14(4):14731-44.

  • 16. Wang J Wang C Chen N et al. Association between the plasminogen activator inhibitor-1 4G/5G polymorphism and risk of venous thromboembolism: a meta-analysis. Thromb Res. 2014;134(6):1241-8

  • 17. Heneghan C Ward A Perera R. Self-monitoring of oral anticoagulation: systematic review and meta-analysis of individual patient data. Lancet 2012; 379: 322–34

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