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    Pulmonary Arterial Hypertension

    Pulmonary Arterial Hypertension

    National Organization for Rare Disorders, Inc.

    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

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

    Disorder Subdivisions

    • idiopathic pulmonary arterial hypertension (IPAH)
    • heritable pulmonary arterial hypertension (HPAH)

    General Discussion

    Pulmonary arterial hypertension (PAH) is a rare, progressive disorder characterized by high blood pressure (hypertension) of the main artery of the lungs (pulmonary artery) for no apparent reason. The pulmonary artery is the blood vessel that carries blood from 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 20-50. 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 causes the heart to work much harder, and over time, these muscles 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 eitehr: (1) an autosomal dominant genetic condition associated with mutations in the BMPR2 gene or another gene in the TGFbeta 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 directly linked to diet drugs such as Fen Phen, Pondimin and Redux. These drugs were taken off the market in 1997, although cases related to diet drugs and toxins, such as methamphetamines do still appear.

    Resources

    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
    Internet: http://www.srfcure.org/home

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

    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
    Internet: 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
    Internet: http://www.lungusa.org

    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
    Internet: http://www.nhlbi.nih.gov/

    PHCentral
    1309 12th Avenue
    San Francisco, CA 94122-2213
    Tel: (415)564-0707
    Fax: (415)564-0707
    Email: info@phcentral.org
    Internet: http://www.phcentral.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
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    PHA EUROPE, European Pulmonary Hypertension Association
    Wilhelmstrasse 19
    1120 Vienna
    Austria
    Tel: 43 1 402 37 25
    Fax: 43 1 409 35 28
    Email: info@phaeurope.org
    Internet: http://www.phaeurope.org

    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:  10/20/2011
    Copyright  1990, 1992, 1995, 1996, 1997, 1998, 1999, 2001, 2002, 2004, 2011 National Organization for Rare Disorders, Inc.

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