Is screening for pulmonary hypertension (PH) indicated for patients with scleroderma?

Screening for Pulmonary Hypertension in Scleroderma

Screening for pulmonary hypertension is strongly indicated for all patients with scleroderma due to the high prevalence and mortality associated with this complication. 1

Epidemiology and Significance

• Pulmonary hypertension (PH) occurs in approximately 16% of scleroderma patients (range 4.9-38%), making it one of the most common serious complications 1
• In limited scleroderma, PH is the cause of death in up to 50% of patients who die from scleroderma-related complications 1
• Early diagnosis through screening is associated with improved outcomes, as patients diagnosed earlier typically have milder disease with better exercise tolerance and pulmonary hemodynamics 2

Risk Factors for Developing PH in Scleroderma

Patients at highest risk for developing isolated pulmonary arterial hypertension (PAH) include those with:

• Long-standing limited scleroderma (CREST syndrome) 1
• Presence of specific autoantibodies (including anti-centromere antibodies) 1
• Disease onset after menopause 1
• Anti-nucleolar antibodies (U3RNP, B23, Th/To, and U1RNP) 1
• Marked decrease in diffusing capacity (DLCO) 1

Recommended Screening Approach

For Symptomatic Patients:

• Echocardiographic screening is strongly recommended (Class I, Level B recommendation) for all symptomatic patients with scleroderma spectrum diseases 1
• Right heart catheterization (RHC) is indicated in all cases of suspected PAH associated with scleroderma, particularly if specific drug therapy is being considered (Class I, Level C recommendation) 1

For Asymptomatic Patients:

• Echocardiographic screening may be considered in asymptomatic patients with scleroderma spectrum diseases (Class IIb, Level C recommendation) 1
• Regular monitoring of DLCO is crucial, as a progressive decline in DLCO is strongly associated with developing PAH 1

Key Screening Tests

Doppler Echocardiography

• Primary non-invasive screening tool for PH in scleroderma 1
• Allows estimation of systolic pulmonary artery pressure (sPAP) and assessment of right ventricular function 1
• Serial echocardiograms are valuable - an increase in right ventricular systolic pressure (RVSP) of ≥3 mm Hg/year is associated with a 6.15-fold increased risk of developing PAH 3

Pulmonary Function Tests

• Isolated reduction in DLCO is a strong predictor of PAH development 1
• 20% of patients with limited scleroderma and isolated decrease in DLCO acquire PAH within 5 years 1
• 35% of patients with a marked decrease in DLCO (≤55% of predicted) will eventually develop PAH 1
• A linear decrease in DLCO over time (from approximately 80% predicted to 45% predicted) has been observed in the years preceding PAH diagnosis 1

Exercise Testing

• Exercise Doppler echocardiography may detect early pulmonary vascular disease before resting PH develops 1
• Some studies have shown that asymptomatic scleroderma patients with normal resting echocardiograms may have marked increases in estimated sPAP with exercise (up to 60 mm Hg) 1

Diagnostic Confirmation

• Right heart catheterization remains the gold standard for diagnosing PH and is essential before initiating specific therapy 1
• Helps differentiate between various causes of PH in scleroderma patients (PAH, PH due to left heart disease, PH due to interstitial lung disease) 4

Clinical Pitfalls and Caveats

• ECG and chest X-ray are not reliable predictors of PAH in scleroderma patients 1
• Patients with scleroderma may have multiple causes of PH (interstitial lung disease, left heart disease, pulmonary veno-occlusive disease) which require different management approaches 4
• Initiating pulmonary vasodilators in patients with pulmonary veno-occlusive disease can lead to increased mortality, highlighting the importance of accurate diagnosis 4
• Older men, those with rapid rises in sPAP, or those with initial sPAP >60 mm Hg are at greatest risk of dying from PAH 1

By implementing systematic screening with echocardiography and DLCO measurements, clinicians can identify PH earlier in scleroderma patients, potentially improving outcomes in this high-risk population.