Pulmonary Arterial Hypertension

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Pulmonary Arterial Hypertension is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • FPAH
  • HPAH
  • idiopathic pulmonary arterial hypertension
  • IPAH
  • PAH
  • precapillary pulmonary hypertension
  • primary obliterative pulmonary vascular disease
  • primary pulmonary hypertension
  • Associated pulmonary arterial hypertension
  • APAH

Disorder Subdivisions

  • None

General Discussion

Summary
Pulmonary arterial hypertension (PAH) is a rare, progressive disorder characterized by high blood pressure (hypertension) in the arteries of the lungs (pulmonary artery) for no apparent reason. The pulmonary arteries are the blood vessels that carry blood from the right side of the heart through the lungs. Symptoms of PAH include shortness of breath (dyspnea) especially during exercise, chest pain, and fainting episodes. The exact cause of PAH is unknown and although treatable, there is no known cure for the disease. PAH usually affects women between the ages of 30-60. Individuals with PAH may go years without a diagnosis, either because their symptoms are mild, nonspecific, or only present during demanding exercise. However, it is important to treat PAH because without treatment high blood pressure in the lungs causes the right heart to work much harder, and over time, this heart muscle may weaken or fail. The progressive nature of this disease means that an individual may experience only mild symptoms at first, but will eventually require treatment and medical care to maintain a normal lifestyle.
Approximately 15-20% of patients with PAH have heritable PAH. People with heritable PAH have either: (1) an autosomal dominant genetic condition associated with mutations in the BMPR2 gene or another gene in the TGFbeta pathway or other recently identified pathway now associated with HPAH, or (2) are members of a family in which PAH is known to occur as primary disease.

Introduction
The first reported case of PAH occurred in 1891, when the German doctor E. Romberg published a description of a patient who, at autopsy, showed thickening of the pulmonary artery but no heart or lung disease that might have caused the condition. In 1951, 3 cases were reported by Dr. D.T. Dresdale in the U.S. and the illness was originally called primary pulmonary hypertension. PAH has been linked to diet drugs such as Fen-Phen, Pondimin and Redux. These drugs were taken off the market in 1997, although cases related to drugs and toxins, such as methamphetamines do still appear. PAH is also associated with a number of other medical diseases such as cirrhosis and connective tissue diseases like scleroderma. About 30% of patients with PAH have an associated connective tissue disease.

Supporting Organizations

American Heart Association

7272 Greenville Avenue
Dallas, TX 75231
Tel: (214)784-7212
Fax: (214)784-1307
Tel: (800)242-8721
Email: Review.personal.info@heart.org
Website: http://www.heart.org

American Lung Association

1301 Pennsylvania Ave NW
Suite 800
Washington, DC 20004
USA
Tel: (202)785-3355
Fax: (202)452-1805
Tel: (800)586-4872
Email: info@lungusa.org
Website: http://www.lungusa.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

NIH/National Heart, Lung and Blood Institute

P.O. Box 30105
Bethesda, MD 20892-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov
Website: http://www.nhlbi.nih.gov/

PHA EUROPE, European Pulmonary Hypertension Association

Wilhelmstrasse 19
1120 Vienna
Tel: 43 1 402 37 25
Fax: 43 1 409 35 28
Email: info@phaeurope.org
Website: http://www.phaeurope.org

PHCentral

1309 12th Avenue
San Francisco, CA 94122-2213
Tel: (415)564-0707
Fax: (415)564-0707
Email: info@phcentral.org
Website: http://www.phcentral.org

Pulmonary Hypertension Association

801 Roeder Road, Ste 1000
Silver Spring, MD 20910
Tel: (301)565-3004
Fax: (301)565-3994
Email: PHA@PHAssociation.org
Website: http://www.PHAssociation.org

Scleroderma Research Foundation

220 Montgomery Street
Suite 1411
San Francisco, CA 94104
USA
Tel: (415)834-9444
Fax: (415)834-9177
Tel: (800)441-2873
Email: srfcure@sclerodermaresearch.org
Website: http://www.srfcure.org/home

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  1/9/1970
Copyright  2015 National Organization for Rare Disorders, Inc.