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Idiopathic and/or familial pulmonary arterial hypertension

Orpha number ORPHA422
Synonym(s) -
Prevalence 1-9 / 100 000
  • Autosomal dominant
  • Sporadic
Age of onset Variable
  • I27.0
MeSH -
MedDRA -


Pulmonary arterial hypertension (PAH) is a rare condition characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH can be sporadic (idiopathic PAH, or primary pulmonary hypertension), familial (caused by germline BMPR2 mutations, a type II member of the TGF beta receptor superfamily), or related to other conditions including connective tissue disease, congenital heart disease, human immunodeficiency virus infection, portal hypertension, appetite suppressant exposure. Prevalence of PAH is 15 per million in France. The lack of specificity of PAH symptoms (mostly dyspnea) presumably leads to underdiagnosis of this condition. Echocardiography is the investigation of choice for non-invasive screening. Measurement of hemodynamic parameters during right-heart catheterizing is mandatory to establish the diagnosis (mean pulmonary artery pressure > 25 mmHg and pulmonary artery wedge pressure < 12 mmHg). Acute pulmonary vasodilator testing should be performed with nitric oxide or prostacyclin during right-heart catheterization. Recent advances in the management of PAH including continuous intravenous prostacyclin infusion and endothelin receptor antagonists have improved markedly the patients' prognosis. Novel treatments such as inhaled iloprost and type 5 phosphodiesterase inhibitors have to be further evaluated in this setting. Lung transplantation is the last option for patients deteriorating despite medical treatment.

Expert reviewer(s)

  • Pr Marc HUMBERT
  • Pr Gérald SIMONNEAU

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Detailed information

Summary information
Review article
  • EN (2013)
Clinical practice guidelines
  • FR (2007,pdf)
Guidance for genetic testing
  • FR (2010,doc)
Clinical genetics review
  • EN (2011)
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