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Genetic and Rare Diseases Information Center (GARD)

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Pulmonary arterial hypertension


Other Names for this Disease
  • Familial pulmonary arterial hypertension
  • FPAH
  • Hereditary pulmonary arterial hypertension
  • Heritable pulmonary arterial hypertension
  • Idiopathic pulmonary arterial hypertension
More Names
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Overview


Pulmonary arterial hypertension (PAH) is a progressive condition that affects the heart and lungs. It is characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. The most common signs and symptoms are shortness of breath (dyspnea) during exertion and fainting spells. As the condition worsens, people can experience dizziness, swelling (edema) of the ankles or legs, chest pain, and a racing pulse. Most cases of PAH occur in individuals with no family history of the disorder. Although some cases are due to mutations in the BMPR2 gene and inherited in an autosomal dominant pattern, a gene mutation has not yet been identified in most individuals.[1] When PAH is inherited from an affected relative it is called "familial" PAH. Cases with no identifiable cause may be referred to as "idiopathic" PAH. PAH can also occur secondary to an underlying disorder such as connective tissue diseases, HIV infection, chronic hemolytic anemia, and congenital heart disease, to name a few. PAH can also be induced by certain drugs and toxins, for example fenfluramine and dexfenfluramine (appetite suppressants now banned by the FDA), toxic rapeseed oil, and amphetamines.[2] 
Last updated: 9/20/2013

References

  1. Pulmonary arterial hypertension. Genetics Home Reference. January 2007; http://ghr.nlm.nih.gov/condition/pulmonary-arterial-hypertension. Accessed 9/28/2011.
  2. Rubin LJ, Hopkins W. Overview of pulmonary hypertension in adults. In: Basow DS. UpToDate. Waltham, MA: UpToDate; 2013;
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Basic Information

  • The American Heart Association has an information page on pulmonary hypertension. You can access this information by clicking on the link above.
  • You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
  • Genetics Home Reference (GHR) contains information on Pulmonary arterial hypertension. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • The American Lung Association has an information page on pulmonary hypertension. To access this information, click on the link above.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pulmonary arterial hypertension. Click on the link to view a sample search on this topic.

Press Releases

  • The U.S. Food and Drug Administration (FDA) approved a new orphan drug called Letairis for the treatment of pulmonary arterial hypertension. To read the news release regarding this drug, click on the link.