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) |
| Chest pain | Very frequent (present in 80%-99% of cases) |
| Dyspnea | Very frequent (present in 80%-99% of cases) |
| Elevated right atrial pressure | Very frequent (present in 80%-99% of cases) |
| Increased pulmonary vascular resistance | Very frequent (present in 80%-99% of cases) |
| Right ventricular failure | Very frequent (present in 80%-99% of cases) |
| Right ventricular hypertrophy | Very frequent (present in 80%-99% of cases) |
| Abnormal thrombosis | Frequent (present in 30%-79% of cases) |
| Edema of the lower limbs | Frequent (present in 30%-79% of cases) |
| Fatigue | Frequent (present in 30%-79% of cases) |
| Hepatomegaly | Frequent (present in 30%-79% of cases) |
| Palpitations | Frequent (present in 30%-79% of cases) |
| Pulmonary arterial medial hypertrophy | Frequent (present in 30%-79% of cases) |
| Pulmonary artery vasoconstriction | Frequent (present in 30%-79% of cases) |
| Pulmonary aterial intimal fibrosis | Frequent (present in 30%-79% of cases) |
| Vertigo | Frequent (present in 30%-79% of cases) |
| Abnormality of the tricuspid valve | Occasional (present in 5%-29% of cases) |
| Acrocyanosis | Occasional (present in 5%-29% of cases) |
| Ascites | Occasional (present in 5%-29% of cases) |
| Capillary hemangiomas | Occasional (present in 5%-29% of cases) |
| Congestive heart failure | Occasional (present in 5%-29% of cases) |
| Hemoptysis | Occasional (present in 5%-29% of cases) |
| Recurrent respiratory infections | Occasional (present in 5%-29% of cases) |
| Sudden cardiac death | Occasional (present in 5%-29% of cases) |
| Pulmonary arterial hypertension | Very rare (present in 1%-4% of cases) |
| Arterial intimal fibrosis | - |
| - | |
| Hypertension | - |
| - | |
| Telangiectasia | - |
People with pulmonary arterial
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
The average survival of a person with pulmonary arterial
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s 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.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
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
