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Diseases

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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is pulmonary arterial hypertension?

How might pulmonary arterial hypertension be treated?

What is the long-term outlook for people with pulmonary arterial hypertension?

What is pulmonary arterial hypertension?

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

How might pulmonary arterial hypertension be treated?

People with pulmonary arterial hypertension (PAH) benefit from receiving treatment at specialized centers.[3] The Pulmonary Hypertension Association offers a Find a Doctor tool which may aid you in locating your nearest center.

Treatment of serious or life threatening PAH may involve continuous IV epoprostenol. Other treatment options, include treprostinil, iloprost, bosentan, ambrisentan, sildenafil, and tadalafil. Many of these treatments can be administered in various forms, such as by shot, IV, or inhalation. A small number of people with PAH respond well to long term oral calcium channel blockers. Blood thinners, diuretics, and supplemental oxygen may be prescribed as needed.[3]

Many drugs can be harmful to people with PAH. The following should be avoided: appetite suppressants, cocaine, amphetamines (and related compounds), low oxygen environments (such as high altitudes), and possibly estrogen compounds (oral contraceptives and hormone replacement therapy).[3]

Last updated: 9/20/2013

What is the long-term outlook for people with pulmonary arterial hypertension?

The average survival of a person with pulmonary arterial hypertension (PAH) after diagnosis is estimated to be around 2.8 years, however individual prognosis may be better or worse depending on a variety of factors including age and severity of PAH. Studies have demonstrated survivals ranging from less than 1 year to over 7 years. Current treatments are helpful in controlling/managing symptoms experienced by people with PAH, but unfortunately no treatment has significantly improved survival.[3][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;
  3. Hopkins W, Rubin LJ. Treatment of pulmonary hypertension in adults. In: Basow, DS. UpToDate. Waltham, MA: UpToDate; 2013;


Other Names for this Disease
  • Familial pulmonary arterial hypertension
  • FPAH
  • Hereditary pulmonary arterial hypertension
  • Heritable pulmonary arterial hypertension
  • Idiopathic pulmonary arterial hypertension
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.