The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Pulmonary hypertension | 100% |
| Chest pain | 90% |
| Elevated right atrial pressure | 90% |
| Increased pulmonary vascular resistance | 90% |
| Respiratory insufficiency | 90% |
| Right ventricular failure | 90% |
| Right ventricular hypertrophy | 90% |
| Edema of the lower limbs | 50% |
| Hepatomegaly | 50% |
| Vertigo | 50% |
| Abnormal thrombosis | 33% |
| Dyspnea | 33% |
| Pulmonary arterial medial hypertrophy | 33% |
| Pulmonary artery vasoconstriction | 33% |
| Pulmonary aterial intimal fibrosis | 33% |
| Abnormality of the tricuspid valve | 7.5% |
| Acrocyanosis | 7.5% |
| Ascites | 7.5% |
| Congestive heart failure | 7.5% |
| Hemoptysis | 7.5% |
| Recurrent respiratory infections | 7.5% |
| Sudden cardiac death | 7.5% |
| Arterial intimal fibrosis | - |
| Autosomal dominant inheritance | - |
| Hypertension | - |
| Incomplete penetrance | - |
| Telangiectasia | - |
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]
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]
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Strategic Planning for Pulmonary Vascular Disease Research Monday, March 8, 2010 -
Tuesday, March 9, 2010
Location:
Bethesda,
Maryland
Description: Formulation of strategy for advancing clinical research in pulmonary arterial hypertension (PAH) was a high priority of this conference. Plans are to make participants' recommendations available via publication in a peer-reviewed journal. Initiatives on future research were considered.
Contact: Timothy M. Moore, M.D., Ph.D., Tim.Moore@nih.govTim.Moore@nih.gov
Co-funding Institute(s): National Heart, Lung, and Blood Institute, Office of Rare Diseases Research
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My daughter has been diagnosed with familial pulmonary arterial hypertension & I was wondering if there is a cure & if not, how long will she have to live? Thank you. See answer
