Screening strategies for pulmonary arterial hypertension

Author:

Kiely David G123,Lawrie Allan23,Humbert Marc456

Affiliation:

1. Sheffield Pulmonary Vascular Disease Unit, Royal Hallamshire Hospital, Sheffield, S10 2JF, UK

2. Department of Infection, Immunity & Cardiovascular Disease, University of Sheffield, Sheffield, S10 2RX, UK

3. Insigneo Institute for in silico Medicine, Sheffield, S1 3JD, UK

4. Univ. Paris–Sud, Faculté de Médecine, Université Paris-Saclay, Le Kremlin Bicêtre, France

5. AP-HP, Service de Pneumologie, Centre de Référence de l’Hypertension Pulmonaire, Hôpital de Bicêtre, Le Kremlin Bicêtre, France

6. INSERM UMR_S 999, Hôpital Marie Lannelongue, Le Plessis Robinson, France

Abstract

Abstract Pulmonary arterial hypertension (PAH) is rare and, if untreated, has a median survival of 2–3 years. Pulmonary arterial hypertension may be idiopathic (IPAH) but is frequently associated with other conditions. Despite increased awareness, therapeutic advances, and improved outcomes, the time from symptom onset to diagnosis remains unchanged. The commonest symptoms of PAH (breathlessness and fatigue) are non-specific and clinical signs are usually subtle, frequently preventing early diagnosis where therapies may be more effective. The failure to improve the time to diagnosis largely reflects an inability to identify patients at increased risk of PAH using current approaches. To date, strategies to improve the time to diagnosis have focused on screening patients with a high prevalence [systemic sclerosis (10%), patients with portal hypertension assessed for liver transplantation (2–6%), carriers of mutations of the gene encoding bone morphogenetic protein receptor type II, and first-degree relatives of patients with heritable PAH]. In systemic sclerosis, screening algorithms have demonstrated that patients can be identified earlier, however, current approaches are resource intensive. Until, recently, it has not been considered possible to screen populations for rare conditions such as IPAH (prevalence 5–15/million/year). However, there is interest in the use of artificial intelligence approaches in medicine and the application of diagnostic algorithms to large healthcare data sets, to identify patients at risk of rare conditions. In this article, we review current approaches and challenges in screening for PAH and explore novel population-based approaches to improve detection.

Funder

Watermeadow Medical

Ashfield Company

Actelion Pharmaceuticals Ltd

Publisher

Oxford University Press (OUP)

Subject

Cardiology and Cardiovascular Medicine

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