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We read with great interest the review by Scholzel et al. [1], about chronic thromboembolic pulmonary hypertension (CTEPH), and especially, the sections on pathophysiology, risk factors and diagnostic work-up. However, we would like a further comment about congenital abnormalities causing hypercoagulability in these subjects. In fact, in our experience [2, 3], we have observed CTEPH patients with methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism or combined deficiency of proteins C and S. Can we consider these abnormalities as predisposing factors for CTEPH? Should thrombophilia screening be performed in subjects with suspect PAH?
Could these abnormalities play a role in recurrent pulmonary hypertension after pulmonary endarterectomy?
References
Schölzel BE, Snijder RJ, Mager JJ, et al. Chronic thromboembolic pulmonary hypertension. Neth Heart J. 2014;22:533–41.
Correale M, Montrone D, Lacedonia D, et al. Multiprofessional and intrahospital experience for diagnosis and treatment of pulmonary arterial hypertension. Monaldi Arch Chest Dis. 2012;78:205–9.
D’Amato N, Correale M, D’Agostino C. Aortic thrombus and acute pulmonary embolism in an individual heterozygous for the MTHFR C677T mutation. Rev Esp Cardiol. 2010;63:1366.
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Correale, M., Lacedonia, D., D’Andrea, G. et al. Chronic thromboembolic pulmonary hypertension. Neth Heart J 23, 193 (2015). https://doi.org/10.1007/s12471-015-0667-8
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DOI: https://doi.org/10.1007/s12471-015-0667-8