The early symptoms of pulmonary arterial hypertension (PAH), such as dyspnoea, dizziness and fatigue, are often mild and are common to many other conditions. As a result, PAH is a challenging disease to identify and the diagnosis cannot be made on symptoms alone. Watch the video to understand why it sometimes takes more than 2 years to diagnose PAH.
The non-specific nature of the symptoms, coupled with the rarity of the disease, means that many patients are not diagnosed until the disease is already quite severe.
Early diagnosis and therapeutic intervention can offer an improved outlook for patients. That is why it is so critical to identify patients at risk of PAH and refer them to a specialist centre at the earliest opportunity to confirm the diagnosis.
PAH should be considered in the differential diagnosis of exertional dyspnoea, syncope, angina and/or progressive limitation of exercise capacity, particularly in patients without apparent risk factors, symptoms or signs of common cardiovascular and respiratory disorders. Special awareness should be directed towards patients with associated conditions and/or risk factors for the development of PAH:
When PAH is suspected, clinical history, symptoms, signs, electrocardiogram (ECG), chest radiograph, echocardiogram, PFTs, CT of the chest and a V/Q scan are all required in order to exclude diagnosis of left heart disease, lung disease or chronic thromboembolic pulmonary hypertension (CTEPH). To confirm diagnosis of PAH, referral to a PH specialist centre for RHC is required. A diagnostic-based algorithm can be found in the 2015 ESC/ERS clinical guidelines for the diagnosis and treatment of PH.
Adapted from Galiè et al. 2016
CT, computed tomography; CTEPH, chronic thromboembolic pulmonary hypertension; DLCO, diffusing capacity for carbon monoxide; ECG, electrocardiogram; ERS, European Respiratory Society; ESC, European Society of Cardiology; HRCT, high-resolution computed tomography; mPAP, mean pulmonary arterial pressure; PAH, pulmonary arterial hypertension; PAWP, pulmonary artery wedge pressure; PFT, pulmonary function test; PH, pulmonary hypertension; PVR, pulmonary vascular resistance; RHC, right heart catheterisation; RV, right ventricle; V/Q, ventilation-perfusion
The implementation of screening programmes targeting high-risk patient groups can help to identify patients earlier. The 2015 European Society of Cardiology and European Respiratory Society (ESC/ERS) guidelines recommend annual echocardiographic screening in asymptomatic systemic sclerosis (SSc) patients.
Screening for PAH in patients with SSc has shown to result in an increase of 47% in survival after 8 years vs those detected during routine clinical practice.
Adapted from Humbert et al. 2011
CI, confidence interval; HR, hazard ratio; PAH, pulmonary arterial hypertension; SSc, systemic sclerosis
Annual screening with echocardiography, PFTs and biomarkers may be considered in patients with systemic sclerosis.
Echocardiography should always be performed when pulmonary hypertension (PH) is suspected, and may be used to infer a diagnosis of PH in patients in whom multiple different echocardiographic measurements are consistent with this diagnosis. A transthoracic echocardiogram (TTE) is a non-invasive screening test for PH that may provide an estimate of the right ventricular systolic pressure, which is equivalent to the systolic pulmonary arterial pressure and the systolic right ventricular pressure. In the initial investigation of patients with PAH it is important to obtain adequate images of the right heart. Tricuspid regurgitation velocity and the presence of other echocardiographic signs should be combined to estimate the probability of PH.
Right heart catheterisation (RHC) is required for the definitive diagnosis of PAH. RHC involves directing a pulmonary artery catheter into the right side of the heart to assess the cardiopulmonary haemodynamics. The procedure is technically demanding so it is recommended that RHC is only undertaken at specialist pulmonary hypertension (PH) centres.
Adapted from Pagnamenta et al. 2017
mPAP, mean pulmonary arterial pressure; PAP, pulmonary arterial pressure; PAWP, pulmonary artery wedge pressure; PVR, pulmonary vascular resistance; RAP, right arterial pressure; RHC, right heart catheterisation; RVP, right ventricular pressure
Upon diagnosis, patients are assessed for risk of disease progression. Guidelines recommend regular multiparameter risk assessment, both at diagnosis and follow-up (every 3–6 months) to allow the treatment strategy to be tailored to the individual patient at the earliest opportunity. The risk status of patients can be categorised as either low, intermediate or high. This corresponds to an estimated 1-year mortality of <5%, 5–10% or >10% respectively and is based on a number of determinants including WHO functional class, exercise capacity and haemodynamic parameters. There is no single variable that can provide sufficient prognostic information on its own; a multidimensional approach is required. 
Adapted from Galiè et al. 2016
BNP, brain natriuretic peptide; CI, cardiac index; CMR, cardiovascular magnetic resonance; NT-proBNP, N-terminal pro-B-type natriuretic peptide; PH, pulmonary hypertension; RA, right atrium; RAP, right atrial pressure; 6MWD, 6-minute walk distance; SvO2, mixed venous oxygen saturation; VE/VCO2, ventilatory equivalents for carbon dioxide; VO2, oxygen consumption; WHO, World Health Organization
While the exact cause of PAH is uncertain, a clearer picture of the underlying pathological mechanisms is emerging.
Modern treatments can significantly improve patients’ symptoms and slow the rate of clinical deterioration.
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On this page you will find interactive 3D animations of the human anatomy and various syndromes. This allows you to zoom in on the anatomy, tissue structures, disease mechanisms and the course of the disease.