Chronic Thromboembolic Pulmonary Hypertension Manifesting as Exertional Limitation: A Clinical Diagnostic Perspective

Abstract

Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare but potentially progressive cause of pulmonary hypertension, often presenting with subtle exertional symptoms that delay diagnosis. We report the case of a 34-year-old man with no prior chronic medical conditions who presented with a three-month history of progressive exertional dyspnea and fatigue, accompanied by intermittent lower extremity edema and Raynaud-like color changes in the toes. Physical examination revealed mild ankle edema and subtle digital clubbing, with otherwise unremarkable cardiopulmonary and musculoskeletal findings. Laboratory evaluation showed elevated NT-proBNP, modestly raised D-dimer, and preserved renal and hepatic function. Transthoracic echocardiography revealed right ventricular dilation with preserved systolic function and an estimated pulmonary artery systolic pressure of 62 mmHg. Pulmonary function testing was largely normal, but computed tomography pulmonary angiography demonstrated organized thrombotic material in segmental and subsegmental pulmonary arteries bilaterally. Right heart catheterization confirmed pre-capillary pulmonary hypertension. Further evaluation revealed combined congenital deficiencies of protein S and protein C, explaining the thrombotic predisposition in the absence of prior venous thromboembolic events. The patient was managed with anticoagulation, cautious diuresis, supportive therapy, and initiation of pulmonary vasodilator therapy, with referral to a specialized center for consideration of surgical intervention. This case emphasizes the importance of thorough clinical evaluation, early imaging, and hemodynamic assessment in young adults presenting with unexplained exertional limitation. Recognition of underlying thrombophilic disorders is crucial to guide management, prevent recurrent thrombosis, and preserve right ventricular function, underscoring the value of a multidisciplinary approach in optimizing long-term outcomes in CTEPH.