Chronic thromboembolic pulmonary hypertension as an uncommon presentation of primary antiphospholipid syndrome

Antiphospholipid syndrome is an autoimmune disease characterized pathophysiologically by the presence of antiphospholipid antibodies and > or =1 clinical manifestation, the most common being venous or arterial thrombosis. We describe the case of a 40-year-old male with unexplained severe pulmonary arterial hypertension with a seven-day history of progressive shortness of breath, hemoptysis, chest discomfort and bilateral pedal edema. Electrocardiographic, echocardiographic and imaging studies showed changes consistent with chronic thromboembolic pulmonary hypertension. Further work-up showed positive anticardiolipin antibodies and lupus anticoagulant with negative features for lupus with negative primary thrombophilic studies as well. The patient was managed adequately with oral anticoagulation with improvement of his clinical status and referred to a tertiary care center to be screened for pulmonary thromboendarterectomy. For patients meeting surgical selection criteria, pulmonary thromboendarterectomy has demonstrated positive outcomes with respect to survival, functionality and quality of life. We discuss the pathophysiology and treatment as well as novel therapies in nonsurgical candidates with chronic thromboembolic pulmonary hypertension in the setting of primary antiphospholipid syndrome.