CTEPH and pulmonary embolism CTEPH is classified within group 4 PH [1], and is characterised pathologically by organised thromboembolic material and by altered vascular remodelling initiated or potentiated by a combination of defective angiogenesis, impaired fibrinolysis and endothelial dysfunction [2–4]. These changes lead to PH and ultimately right ventricular failure [5, 6]. The precise pathogenesis of CTEPH remains unclear, but appears to be incited by acute pulmonary embolism [7]. However, classic risk factors for venous thromboembolism do not appear to increase the risk of CTEPH [8] and there are clear geographic differences in CTEPH epidemiology. An international CTEPH registry (Europe and Canada) indicated that 75% of patients with CTEPH had a documented antecedent history of acute pulmonary embolism [9], while in Japan, the rates of acute pulmonary embolism preceding CTEPH range from only 15% to 33% [10, 11]. There is an 80% female preponderance of CTEPH in Japan; these statistics differ significantly from the USA and Europe [9]. A number of abnormal autoimmune, inflammatory and thrombophilia markers have been found in CTEPH patients [2]; it is feasible that variability in this underlying pathological milieu contributes to the variability in the worldwide CTEPH epidemiology. Furthermore, variable gene expression has been demonstrated in pulmonary artery endothelial cells from patients with CTEPH compared with normal controls [12]. In published prospective studies with the diagnosis confirmed by right heart catheterisation (RHC) the incidence of CTEPH after symptomatic acute pulmonary embolism is reported to range from 0.4% to 6.2% [13–25], giving a pooled incidence of 3.4% (95% CI 2.1−4.4%) [7]. Since that analysis, a new report from Switzerland screened 508 patients after acute pulmonary embolism over 2 years and found a cumulative incidence of CTEPH confirmed with RHC of just 0.79% [26]. Determining the precise CTEPH incidence is complex. CTEPH is likely both underdiagnosed and the incidence of CTEPH after acute pulmonary embolism prone to overestimation, making the actual incidence difficult to quantify. Non-specific symptoms, variable rates of antecedent acute pulmonary embolism and the expertise required to read computed tomography pulmonary angiography (CTPA) contribute to underdiagnosis [27, 28]. Underdiagnosis is further compounded by the infrequent use of lung ventilation/perfusion scintigraphy (V/Q scan) despite guideline recommendations [29, 30]. Approximately 30 000 acute pulmonary embolism cases are diagnosed annually in France, with the CTEPH incidence estimated at 3.4% [31]. GUÉRIN et al. [22] suggested a CTEPH incidence of 4.8%. Neither of these estimates is consistent with the current frequency of newly diagnosed CTEPH. A limitation of the numerous CTEPH incidence reports after acute pulmonary embolism may be attributed to an unrecognised amalgam of incident and prevalent cases [22]. In terms of reducing the risk of CTEPH following acute pulmonary embolism, no prospective randomised acute pulmonary embolism trials have examined systemic or catheter-based thrombolysis or clot extraction with RHC as an outcome measure in patients with persistent symptoms. Claims have been made that the incidence of CTEPH in patients receiving thrombolytic therapy is reduced, but end-points such as an echocardiogram-derived systolic pulmonary arterial pressure (sPAP) of 40 mmHg do not define PH or CTEPH [32]. Systemic thrombolysis failed to reduce the risk of CTEPH in intermediate/high-risk (submassive) pulmonary embolism patients in the 3-year follow-up of the PEITHO trial (average sPAP at follow-up was around 31 mmHg in each group) [33]. To date, there is no proof that aggressive treatment of acute pulmonary embolism can prevent CTEPH.

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CTEPH and Pulmonary Embolism - Summary

What is CTEPH?

Chronic Thromboembolic Pulmonary Hypertension (CTEPH) is classified as Group 4 Pulmonary Hypertension. It develops when blood clots in the pulmonary arteries fail to dissolve properly after an acute pulmonary embolism (PE), instead becoming organised (fibrosed) obstructive material. This is compounded by abnormal vascular remodelling driven by three key mechanisms:
  • Impaired fibrinolysis - the body's clot-dissolving system fails to clear the thrombus
  • Defective angiogenesis - abnormal new blood vessel formation
  • Endothelial dysfunction - the inner lining of pulmonary blood vessels behaves abnormally
The end result is sustained pulmonary hypertension and, ultimately, right ventricular failure.

Epidemiology and Risk Factors

  • Classic VTE (venous thromboembolism) risk factors do not appear to increase CTEPH risk - suggesting a distinct pathophysiology.
  • In Europe/Canada, ~75% of CTEPH patients had a documented prior acute PE.
  • In Japan, only 15-33% had a preceding acute PE, with an 80% female predominance - a striking contrast to Western populations.
  • These geographic differences suggest that autoimmune, inflammatory, and thrombophilic factors, plus variable gene expression in pulmonary artery endothelial cells, may shape individual susceptibility differently across populations.

Incidence After Acute PE

Prospective studies (confirmed by right heart catheterisation) report CTEPH incidence after symptomatic acute PE in the range of 0.4% to 6.2%, with a pooled estimate of 3.4% (95% CI 2.1-4.4%). A more recent Swiss study of 508 patients over 2 years found a lower rate of just 0.79%.
The true incidence is difficult to pin down because:
  1. Underdiagnosis - non-specific symptoms, misread CT pulmonary angiography, and infrequent use of V/Q scanning (despite guideline recommendations)
  2. Overestimation risk - some studies may have mixed incident (new) and prevalent (pre-existing) cases

Can Treating Acute PE Prevent CTEPH?

This is an unresolved question. Key points:
  • No randomised trial has used right heart catheterisation-confirmed CTEPH as an endpoint for thrombolysis or clot extraction therapies.
  • Claims that thrombolysis reduces CTEPH risk are based on weak surrogate endpoints (e.g., echocardiographic systolic pulmonary artery pressure >40 mmHg), which do not formally define CTEPH.
  • The PEITHO trial (3-year follow-up) found that systemic thrombolysis in intermediate/high-risk ("submassive") PE patients did not reduce CTEPH risk - average pulmonary artery pressures at follow-up were similar (~31 mmHg) in both treated and placebo groups.
  • Bottom line: There is currently no proof that aggressive acute PE treatment (thrombolysis, catheter-directed therapy, surgical embolectomy) prevents CTEPH development.

Key Takeaway

CTEPH is an incompletely understood condition sitting at the intersection of thrombosis, vascular biology, and right heart failure. Its link to acute PE is well-established but not universal, and its incidence is likely underestimated in clinical practice. The absence of a proven prevention strategy makes early follow-up and diagnosis after acute PE especially important.
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