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Pulmonary Arterial Hypertension

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Eric D. Austin, MD, MSCI, Vanderbilt University Medical Center, Department of Pediatrics, and James E. Loyd, MD, Vanderbilt University Medical Center, Department of Medicine, for their assistance in the preparation of this report.

Synonyms of Pulmonary Arterial Hypertension

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

Disorder Subdivisions

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

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.

Organizations related to Pulmonary Arterial Hypertension

NORD offers an online community for this rare disease. RareConnect was created by EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders) to provide a safe space where individuals and families affected by rare diseases can connect with each other, share vital experiences, and find helpful information and resources. You can view these international, rare disease communities at www.rareconnect.org.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

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