A 45-year-old woman with PoTS and Ehlers-Danlos syndrome developed severe pulmonary arterial hypertension (estimated RVSP 70 mmHg) that markedly improved with targeted pulmonary vasodilator therapy.
Case Report (n=1)
This case report documents the first known instance of pulmonary arterial hypertension in a patient with PoTS, Ehlers-Danlos syndrome, and psoriatic arthritis, suggesting a potential link between chronic volume loading, inflammation, and vascular compliance.
Abstract Introduction Postural orthostatic tachycardia syndrome (PoTS) is a dysautonomia characterized by excessive tachycardia upon standing without accompanying hypotension. It occurs more commonly in individuals with connective tissue disorders such as Ehlers-Danlos syndrome (EDS), and is further associated with psychiatric comorbidities. Although EDS is linked to peripheral vascular abnormalities including arterial stiffness and impaired venoconstriction, it has not been associated with the development of pulmonary arterial hypertension (PAH). Here, we present a case of PAH arising in a patient receiving chronic intravenous fluid therapy for PoTS. Case Presentation A 45-year-old woman with EDS, PoTS, psoriatic arthritis (PsA), endometriosis, migraines, hypertension, hyperlipidemia, depression, anxiety, and ADHD presented with progressive exertional dyspnea over two years. She had been receiving 1 L of normal saline twice weekly since age 35 for PoTS-related dizziness. PsA had been diagnosed in the context of psoriasis, elevated C-reactive protein, and response to TNF inhibition with golimumab and leflunomide. Evaluation for dyspnea revealed a moderate right pleural effusion and mild hepatic fibrosis. Tilt-table testing did not induce hypotension. Echocardiography demonstrated preserved left ventricular function but severe right ventricular dilation and dysfunction, severe tricuspid regurgitation, a tricuspid annular plane systolic excursion (TAPSE) of 1 cm, and an estimated right ventricular systolic pressure of 70 mmHg.She was urgently referred to a pulmonary hypertension clinic. At presentation, she had conversational dyspnea, orthopnea requiring 60° elevation, and was unable to complete a six-minute walk test. Right heart catheterization confirmed elevated right atrial, right ventricular, and pulmonary arterial pressures with a normal pulmonary artery occlusion pressure. High-resolution chest CT and ventilation-perfusion scans excluded parenchymal disease and pulmonary emboli, and autoimmune serologies were negative. She was initially treated with dobutamine-assisted diuresis and initiated on intravenous treprostinil, titrated to 68 ng/kg/min. Her maintenance regimen now includes macitentan, tadalafil, sotatercept, and remodulin, with marked improvement; she is now able to climb a flight of stairs without dyspnea. Discussion This is the first documented case of PAH in a patient carrying diagnoses of PoTS associated with EDS, and seronegative PsA. It is possible that the symptoms initially attributed to POTS are more likely to have been caused by the PAH. While neither EDS nor PsA are classically linked to PAH, the combination of abnormal vascular compliance, chronic inflammation, and prolonged volume loading may have contributed to disease development. Further research is needed to explore possible inflammatory-mediated mechanisms linking these syndromes. This abstract is funded by: None
Mcnaboe et al. (Fri,) conducted a case report in Pulmonary Arterial Hypertension (n=1). Targeted pulmonary hypertension therapy (treprostinil, macitentan, tadalafil, sotatercept) was evaluated. A 45-year-old woman with PoTS and Ehlers-Danlos syndrome developed severe pulmonary arterial hypertension (estimated RVSP 70 mmHg) that markedly improved with targeted pulmonary vasodilator therapy.