One method of improving early diagnosis is the introduction of screening programmes for high-risk patient populations. These programmes screen patients for the presence of PAH while they are not showing obvious symptoms.
High-risk patient populations are those patients with conditions known to be associated with a high risk of developing PAH, including:
- Family members of a patient with heritable pulmonary arterial hypertension (HPAH)
- Patients with systemic sclerosis (SSc) (see section: PAH in patients with SSc)
- Patients with HIV
- Patients with portopulmonary hypertension (PoPH)
- Patients with congenital heart disease
For example, results from a PAH registry in France, which aimed to describe the clinical and haemodynamic characteristics of patients with PAH and which included 674 consecutive patients from 17 different centres, showed that without screening, the majority of patients were diagnosed in WHO FC III or IV, and only 24% of patients were in the less severe WHO FC II (Figure 1) (see section: Assessing the severity of PAH).1 The US REVEAL registry was established to define the characteristics of patients with PAH and their management in current practice, with the aim of helping to improve diagnosis, treatment and management.2 Data from REVEAL was recently used to validate a quantitative algorithm for predicting survival and to develop a simplified calculator for everyday clinical use.3 In this study, of 504 patients newly diagnosed with PAH enrolled in the registry, over 60% were in functional class III.3
However, PAH was detected at an earlier stage during a national screening program in a high-risk population (patients with systemic sclerosis [SSc]).4 In this study, which aimed to develop a screening algorithm for the early detection of PAH in patients with SSc, 599 patients with SSc (with and without suspicion of PAH) were screened and 18 were found to have PAH as confirmed by RHC. The majority of these patients with PAH who were assessed for functional class (n=16) had less severe disease in functional class I and II (Figure 2) (see section: PAH in patients with SSc), demonstrating the potential value of a screening strategy.4
European and U.S. guidelines now recommend annual screening of high-risk groups with Doppler echocardiography, which is currently the most effective method for screening.5,6 However, right heart catheterisation needs to be performed for a definitive diagnosis of PAH.
- Humbert M, Sitbon O, Chaouat A, et al. Pulmonary arterial hypertension in France: results from a national registry. Am.J.Respir Crit Care Med 2006;173:1023-30.
- Badesch DB, Raskob GE, Elliott CG, et al. Pulmonary arterial hypertension: baseline characteristics from the REVEAL Registry. Chest 2010;137:376–87.
- Benza RL, Gomberg-Maitland M, Miller DP, et al. The REVEAL risk score calculator in newly diagnosed patients with pulmonary arterial hypertension. Chest 2011 Jun 16. [Epub ahead of print]
- Hachulla E, Gressin V, Guillevin L, et al. Early detection of pulmonary arterial hypertension in systemic sclerosis: a French nationwide prospective multicenter study. Arthritis Rheum 2005;52:3792-800.
- Galiè N, Hoeper MM, Humber H, et al. Guidelines for the diagnosis and treatment of pulmonary hypertension. Eur Heart J 2009;30:2493-537.
- McGoon M, Gutterman D, Steen V, et al. Screening, early detection, and diagnosis of pulmonary arterial hypertension: ACCP evidence-based clinical practice guidelines. Chest 2004;126:14S-34S.