Pulmonary arterial hypertension associated with connective tissue disease

Pulmonary arterial hypertension associated with connective tissue disease (CTD-PAH) is a serious condition in which abnormally high blood pressure develops in the pulmonary arteries — the blood vessels that carry blood from the heart to the lungs — as a complication of an underlying connective tissue disease. The most commonly associated connective tissue diseases include systemic sclerosis (scleroderma), systemic lupus erythematosus (SLE), mixed connective tissue disease (MCTD), and, less frequently, rheumatoid arthritis and Sjögren syndrome. Systemic sclerosis accounts for the majority of CTD-PAH cases. The condition primarily affects the cardiovascular and pulmonary systems, as progressive remodeling and narrowing of the small pulmonary arteries leads to increased resistance to blood flow, placing strain on the right side of the heart. Key symptoms include progressive shortness of breath (dyspnea), particularly during physical activity, fatigue, chest pain, dizziness, syncope (fainting), and peripheral edema (swelling of the ankles and legs). As the disease progresses, right heart failure may develop, which is a leading cause of morbidity and mortality in these patients. CTD-PAH generally carries a worse prognosis compared to idiopathic pulmonary arterial hypertension, particularly in patients with systemic sclerosis. Diagnosis requires right heart catheterization to confirm elevated pulmonary arterial pressures, along with evaluation for underlying connective tissue disease through clinical assessment, autoantibody testing, and imaging. Screening with echocardiography and pulmonary function testing is recommended for high-risk patients, especially those with systemic sclerosis. Treatment involves PAH-specific therapies including endothelin receptor antagonists (e.g., bosentan, ambrisentan), phosphodiesterase-5 inhibitors (e.g., sildenafil, tadalafil), prostacyclin analogues (e.g., epoprostenol, treprostinil), and soluble guanylate cyclase stimulators (e.g., riociguat). Combination therapy is increasingly used. Immunosuppressive therapy may be considered in patients with SLE- or MCTD-associated PAH where an inflammatory component is suspected. Management of the underlying connective tissue disease is also essential.

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