Minimally Invasive Tests
A variety of tests are available to screen for possible pulmonary arterial hypertension associated with systemic sclerosis (PAH-SSc), to be followed by confirmatory right heart catheterization (RHC). They can be used at initial evaluation of SSc, regardless of PAH risk factors, and regularly to help identify the potential of associated PAH and trigger additional diagnostic tests before symptoms present.1-3
Pulmonary Function Tests (PFTs) FVC/Dlco ratio >1.6 and/or Dlco <60% of predicted may indicate a patient is at risk for PAH-SSc2
Echocardiogram with focus on the right heart may be used in patients with suspected PAH-SSc2
BNP or NT-proBNP Elevated biomarkers may indicate myocardial dysfunction2
Keep an eye out for symptoms, clinical findings, and risk factors that can aid in the diagnosis of PAH-SSc. Learn How to Recognize Them >
PAH-SSc Screening Recommendations
Annual screening for PAH in patients with SSc is recommended:
The 2022 ESC/ERS Guidelines for pulmonary hypertension recommend patients with SSc have an annual evaluation for PAH (Class I recommendation)2
The Guidelines Also Provide the Following Recommendations2:
The Guidelines Also Provide the Following Recommendations2:
- In adult patients with SSc of >3 years' disease duration, an FVC ≥40%, and a Dlco <60%, the DETECT algorithm is recommended to identify asymptomatic patients with PAH (Class I, Level B recommendation)2*
- Assessing the risk of having PAH, based on an evaluation of breathlessness, in combination with echocardiogram or PFTs and BNP/NT-proBNP, should be considered in patients with SSc (Class IIa, Level B recommendation)2
- Policies to evaluate the risk of having PAH should be considered in hospitals managing patients with SSc (Class IIa, Level C recommendation)2
- In symptomatic patients with SSc, exercise echocardiography or CPET, or CMR may be considered to aid decisions to perform RHC (Class IIb, Level C recommendation)2
- In patients with CTD with overlap features of SSc, an annual evaluation of the risk of PAH may be considered (Class IIb, Level C recommendation)2
- In patients with SSc, where breathlessness remains unexplained following noninvasive assessment, RHC is recommended to exclude PAH (Class I, Level C recommendation)2
There may be racial differences in PAH-CTD: Among patients with PAH in the National Biological Sample and Data Repository for PAH (PAH Biobank), African Americans were 2.5 times more likely to have PAH-CTD than patients of other races.4 Watch for Differences in PAH-SSc Clinical Presentation and Severity >
Confirming PAH-CTD Diagnosis
RHC is the gold standard test to diagnose PAH. It measures the blood pressure in the heart and pulmonary arteries, and is recommended in cases of suspected PAH-CTD to confirm diagnosis, determine severity, and rule out left-side heart disease.2,5
Survival Rates in Patients With PAH-SSc Diagnosed Through Proactive Screening vs Routine Clinical Practice
Retrospective analysis from the French PAH Registry and the ItinérAIR-Sclérodermie program showed higher survival rates in patients who were diagnosed with PAH-SSc with proactive screening in the detection cohort.6†
Reprinted from Arthritis & Rheumatology, Vol 63, Humbert M, et al, Screening for pulmonary arterial hypertension in patients with systemic sclerosis: clinical characteristics at diagnosis and long-term survival, with permission from John Wiley and Sons.
DETECT Video
Play the video below to understand the importance of regularly screening patients with SSc for PAH.
*DETECT was an international cross-sectional study involving 62 experienced centers. DETECT was funded and supported by Actelion Pharmaceuticals Ltd. 488 patients with SSc enrolled between 2008 and 2011, and nearly 1 in 5 (19%, 87/466) were found to have PAH. Fifty-seven patients with PAH-SSc had follow-up data (median observation time, 12.6 months).7,8
†Refers to survival rates at 1, 3, 5, and 8 years. Proactive screening cohort comprised consecutive patients with SSc who entered a systematic PAH detection program and were subsequently found to have PAH on RHC. Routine practice cohort comprised consecutive adult patients with symptomatic SSc diagnosed with PAH by RHC at the time of recruitment into the French PAH Registry.6
BNP=brain natriuretic peptide; CI=confidence interval; CMR=cardiac magnetic resonance; CPET=cardiopulmonary exercise testing; CTD=connective tissue disease; Dlco=diffusing capacity of the lungs for carbon monoxide; ERS=European Respiratory Society; ESC=European Society of Cardiology; FVC=forced vital capacity; HR=hazard ratio; NT-proBNP=N-terminal pro-brain natriuretic peptide; PAH=pulmonary arterial hypertension; PAH-CTD=PAH associated with CTD; PAH-SSc=PAH associated with SSc; PFT=pulmonary function test; RHC=right heart catheterization; SSc=systemic sclerosis.
References: 1. Khanna D, Gladue H, Channick R, et al. Recommendations for screening and detection of connective-tissue disease associated pulmonary arterial hypertension. Arthritis Rheum. 2013;65(12):3194-3201. 2. Humbert M, Kovacs G, Hoeper MM, et al; ESC/ERS Scientific Document Group. 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: the Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS). Eur Heart J. 2022;43(38):3618-3731. 3. Frost A, Badesch D, Gibbs JSR, et al. Diagnosis of pulmonary hypertension. Eur Respir J. 2019;53(1):1801904. 4. Al-Naamani N, Paulus JK, Roberts KE, et al. Racial and ethnic differences in pulmonary arterial hypertension. Pulm Circ. 2017;7(4):793-796. 5. Fischer A, Bull TM, Steen VD. Practical approach to screening for scleroderma-associated pulmonary arterial hypertension. Arthritis Care Res (Hoboken). 2012;64(3):303-310. 6. Humbert M, Yaici A, de Groote P, et al. Screening for pulmonary arterial hypertension in patients with systemic sclerosis: clinical characteristics at diagnosis and long-term survival. Arthritis Rheum. 2011;63(11):3522-3530. 7. Coghlan JG, Denton CP, Grünig E, et al; DETECT study group. Evidence-based detection of pulmonary arterial hypertension in systemic sclerosis: the DETECT study. Ann Rheum Dis. 2014;73(7):1340-1349. 8. Mihai C, Antic M, Dobrota R, et al. Factors associated with disease progression in early-diagnosed pulmonary arterial hypertension associated with systemic sclerosis: longitudinal data from the DETECT cohort. Ann Rheum Dis. 2018;77(1):128-132.
