Pulmonary Arterial Hypertension
National Organization for Rare Disorders, Inc.
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.
- idiopathic pulmonary arterial hypertension
- precapillary pulmonary hypertension
- primary obliterative pulmonary vascular disease
- primary pulmonary hypertension
- Associated pulmonary arterial hypertension
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.
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.
American Heart Association
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American Lung Association
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Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
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- Website: http://rarediseases.info.nih.gov/GARD/
NIH/National Heart, Lung and Blood Institute
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PHA EUROPE, European Pulmonary Hypertension Association
- Wilhelmstrasse 19
- 1120 Vienna
- Tel: 43 1 402 37 25
- Fax: 43 1 409 35 28
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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
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- Fax: (415)834-9177
- Tel: (800)441-2873
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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".
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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.
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Last Updated: 1/9/1970
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