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The prognosis for patients with pulmonary arterial hypertension (PAH) depends on the severity of disease at diagnosis,[1] therefore early diagnosis and treatment is crucial to improving long-term outcomes.[2]

On this page you will find information on the signs and symptoms of PAH, certain populations who are at higher risk of developing PAH, guidelines for screening and how to refer patients with suspected PAH. This page offers disease awareness content only and is not a guide to treating PAH.

This page is intended for Health Care Providers. Are you a patient? Visit PH-human to find more information about PAH.

How does PAH present?

In the early stage of PAH, patients typically present with non-specific symptoms that can be mistaken for asthma, chronic heart failure or even depression and lack of fitness.[3] Symptoms grow progressively more debilitating over time.[4]

The signs and symptoms of PAH

The constellation of symptoms associated with PAH occur as a result of increased pulmonary vascular resistance (PVR), which increases strain on the right ventricle and decreases cardiac output, consequently limiting the amount of oxygenated blood reaching the systemic circulation.[4][5]

Early symptoms are typically induced by exertion but can become more severe over time, affecting patients’ ability to exercise or carry out normal daily activities.[4][6]

Typical symptoms of PAH[4]
1.2_PAH_Screening_and_referral_graph_11.svg

Adapted from Galiè et al. 2016[4]

Clinical signs

Clinical examination can detect signs of right heart dysfunction, which may be secondary to underlying PH.[4] Listening to the chest may reveal a loud pulmonary component of the second heart sound (P2), a right ventricular third heart sound (S3), a pansystolic murmur caused by tricuspid regurgitation and/or a diastolic murmur due to pulmonary regurgitation.[4]

How to screen for PAH?

Certain patient groups are at high risk of developing PAH, including those with congenital heart disease (CHD), connective tissue disease (CTD), human immunodeficiency virus (HIV) and portopulmonary hypertension (PoPH). It is recommended that these patients are screened for PAH to help identify the disease earlier and improve outcomes.[2][4][7]

Screening for PAH in patients with scleroderma has been shown to improve patient outcomes. At 8 years, there was a difference of 47% in survival rates between patients diagnosed during routine clinical practice and those diagnosed through screening.[2]

Impact of screening on survival in scleroderma-associated PAH[2]
1.2_PAH_Screening_and_referral_graph_12.svg

Adapted from Humbert et al. 2011[2]

Screening for PAH in CHD

2015 ESC/ERS and 2018 WSPH guidelines

Regular screening for PAH in patients with CHD, particularly those with corrected defects, is recommended in the 2015 European Society of Cardiology (ESC)/European Respiratory Society (ERS) and 2018 World Symposium on Pulmonary Hypertension (WSPH) guidelines and the proceedings of the 2018 World Symposium on Pulmonary Hypertension.*[4][7]

Screening should include clinical, echocardiographic and electrocardiogram (ECG) evaluation, and should be performed 3–6 months after defect correction, then regularly throughout long-term follow-up.[7][8]

1.2_PAH_Screening_and_referral_graph_13.svg

Adapted from Frost et al. 2019[7]

*Annual screening should be planned for corrected patients who presented with increased baseline pulmonary vascular resistance or with combinations of other predisposing factors.[7]

Screening for PAH in scleroderma

2015 ESC/ERS guidelines

Based on a combination of the peak tricuspid regurgitation velocity (TRV) assessed by echo and the presence of other echocardiographic signs, these guidelines determine the probability of PAH. Referral for right heart catheterisation (RHC) is recommended for patients who have an intermediate or high risk of PAH based on echocardiographic imaging.[4]

2015 ESC/ERS guidelines screening strategy[4]

1.2_PAH_Screening_and_referral_graph_14.svg

Adapted from Galiè et al. 2016[4]

DETECT algorithm

DETECT is an evidence-based screening algorithm for PAH in patients with scleroderma, developed through a large, international, prospective, cross-sectional study.* It is a two-step process that can help physicians determine which patients to refer for echo and subsequent RHC and minimise missed PAH diagnoses.[9]

Find out more about the DETECT algorithm, including how to determine the points for each individual variable here.

DETECT screening algorithm[9]
1.2_PAH_Screening_and_referral_graph_15.svg

Adapted from Coghlan et al. 2014[9]

*Funded and supported by Actelion Pharmaceuticals Ltd.

Australian Scleroderma Interest Group (ASIG) algorithm

This screening algorithm determines the likelihood of PAH in patients with scleroderma based on diffusing capacity for carbon monoxide (DLCO), forced vital capacity (FVC) and N-terminal pro-B-type brain natriuretic peptide (NT-proBNP) levels. Depending on the likelihood of PAH, patients are either recommended to undergo repeat screening or further investigation, including echo and RHC.[10]

ASIG screening algorithm[10]
1.2_PAH_Screening_and_referral_graph_16.svg

Adapted from Weatherald et al. 2019[10]

When to refer?

If PAH is suspected based on clinical findings and key investigations, or if you are unable to diagnose the cause of your patients’ dyspnoea or other undifferentiated symptoms of PAH, the best practice is to refer your patient to a specialist PAH centre as soon as possible.[4][7] One of the reasons for the significant delay to diagnosis of PAH is delays in referrals to specialist centres.[11]

Early diagnosis and intervention can delay disease progression and improve patient outcomes.[3]

Recommended referral pathway

There are a variety of factors that can help you identify patients with suspected PAH, such as clinical presentation, physical exam findings, associated diseases and family history.[4] If PAH is suspected, it is essential that patients are appropriately referred to a specialist PAH centre for further investigation.[7]

Referral pathway for patients with suspected PAH[4][7]

1.2_PAH_Screening_and_referral_graph_17.svg

Adapted from Galiè et al. 2016[4] and Frost et al. 2019[7]

After referral, you should engage in a shared-care team approach with the specialist PAH centre for ongoing management of your patient.[12]

Get clarity. Screen. Refer.

Continue reading

What is PAH

Learn more about PAH, including its clinical classification and various subtypes.

Diagnosing PAH

Explore and investigate the options to diagnose PAH.

ASIG, Australian Scleroderma Interest Group; CHD, congenital heart disease; CI, confidence interval; CTD, connective tissue disease; DLCO, carbon monoxide diffusing capacity; ECG, electrocardiogram; ERS, European Respiratory Society; ESC, European Society of Cardiology; FVC, forced vital capacity; HIV, human immunodeficiency virus; HR, hazard ratio; HRCT, high-resolution computed tomography; NT-proBNP, N-terminal pro-B-type natriuretic peptide; PAH, pulmonary arterial hypertension; PFT, pulmonary function test; PH, pulmonary hypertension; PoPH, portopulmonary hypertension; PVR, pulmonary vascular resistance; RHC, right heart catheterisation; 6MWD, 6-minute walk distance; TRV, tricuspid regurgitation velocity; V/Q, ventilation/perfusion; WSPH, World Symposium on Pulmonary Hypertension

References

Hoeper MM et al. Eur Respir J 2018; 51:1702606.
Humbert M et al. Arthritis Rheum 2011; 63(11):3522–3530.
Humbert M et al. Eur Respir Rev 2012; 21(126):306–312.
Galiè N et al. Eur Heart J 2016; 37(1):67–119.
Lai Y et al. Circ Res 2014; 115(1):115–130.
McGoon MD et al. Chest 2004; 126(1Suppl):14S–34S.
Frost A et al. Eur Respir J 2019; 53(1):1801904.
Dimopoulos K et al. J Am Coll Cardiol 2018; 72(22):2778–2788.
Coghlan JG et al. Ann Rheum Dis 2014; 73(7):1340–1349.
Weatherald J et al. Eur Respir Rev 2019; 28(153):190023.
Strange G et al. Pulm Circ 2013; 3(1):89–91.
Deaño RC et al. JAMA Intern Med 2013; 173(10):887–893.
CP-231802 - May 2021