Background: Pulmonary hypertension (PH), defined by mean pulmonary arterial pressure (PAPm) ≥25 mm Hg, can lead to increasing pulmonary vascular resistance, which eventually results in right ventricle failure. Scleroderma, as an autoimmune connective tissue disease, is associated with PH as a sub-group according to the 2015 ESC/ERS PH classification. Pulmonary arterial hypertension (PAH) associated with scleroderma (SSc-PAH) can often result in poor prognosis with increased mortality. Early diagnosis and specific treatment of PH can significantly improve the prognosis of these patients.
Case report: We present the case of a 50 year-old male, with no relevant family history, with a 2-year history of echocardiography-based diagnosis of PH (PAPm 78 mmHg). Physical examination revealed limited hand and forearm areas of non-folding thick skin, vital signs in the normal range and peripheral oxygen saturation of 96%. Severity and risk assessment were performed based on clinical and imaging tests, and hemodynamics. 12-lead rest ECG revealed sinus tachycardia and right bundle branch block, the six-minute walk test confirmed limited exertion capacity, Borg scale 9. Transthoracic echocardiography pointed to dilated right heart cavities and moderate pericardial effusion. Right heart catheterization confirmed the PAH (PAPm: 36 mmHg), and pulmonary CT angiography excluded massive pulmonary embolism. Rheumatologic examination and immune serology identified a scleroderma subset, limited cutaneous sclerosis form (lcSSc) with early onset PH. Combined specific PH drug therapy was initiated, followed by clinical and functional improvement in clinical status, prognosis and life quality.
Conclusions: In clinical group 1 of PH, the subgroup etiology of PAH associated with connective tissue disease (1.4.1) often goes undiagnosed, mainly due to the diminish of lung involvement symptoms in early CTD stages. Multidisciplinary approach is essential in order to refine the diagnosis and set out the treatment algorithm.