Rare Pediatrics News
Disease Profile
Pulmonary arterial hypertension
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
All ages
ICD-10
-
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Primary pulmonary hypertension; PPH; PAH;
Categories
Heart Diseases
Summary
Pulmonary arterial
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Chest pain | 0100749 | |
Dyspnea |
Trouble breathing
|
0002094 |
Elevated right atrial pressure | 0005168 | |
Increased pulmonary vascular resistance | 0005317 | |
Right ventricular failure | 0001708 | |
Right ventricular hypertrophy | 0001667 | |
30%-79% of people have these symptoms | ||
Abnormal thrombosis |
Abnormal blood clot
|
0001977 |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Palpitations |
Missed heart beat
Skipped heart beat
[ more ] |
0001962 |
Pedal edema |
Fluid accumulation in lower limbs
Lower leg swelling
[ more ] |
0010741 |
Pulmonary arterial medial hypertrophy | 0004964 | |
Pulmonary artery vasoconstriction | 0005308 | |
Pulmonary aterial intimal fibrosis | 0005312 | |
Vertigo |
Dizzy spell
|
0002321 |
5%-29% of people have these symptoms | ||
Abnormal tricuspid valve morphology | 0001702 | |
Acrocyanosis |
Persistent blue color of hands, feet, or parts of face
|
0001063 |
Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
Capillary hemangioma |
Strawberry birthmark
|
0005306 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
Hemoptysis |
Coughing up blood
|
0002105 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
Sudden cardiac death |
Premature sudden cardiac death
|
0001645 |
1%-4% of people have these symptoms | ||
Pulmonary arterial hypertension |
Increased blood pressure in blood vessels of lungs
|
0002092 |
Percent of people who have these symptoms is not available through HPO | ||
Arterial intimal fibrosis | 0011353 | |
0000006 | ||
Hypertension | 0000822 | |
0003829 | ||
Telangiectasia | 0001009 |
Treatment
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
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Riociguat(Brand name: Adempas) Manufactured by Bayer HealthCare Pharmaceuticals, Inc.
FDA-approved indication: Treatment of adults with pulmonary arterial hypertension (PAH) WHO Group 1, to improve exercise capacity, WHO functional class and to delay clinical worsening.
National Library of Medicine Drug Information Portal - Epoprostenol(Brand name: Flolan®) Manufactured by Glaxo Wellcome Inc.
FDA-approved indication: Long-term intravenous treatment of primary pulmonary hypertension in NYHA Class III and Class IV patients.
National Library of Medicine Drug Information Portal - Ambrisentan(Brand name: Letairis®) Manufactured by Gilead Colorado
FDA-approved indication: Treatment of pulmonary arterial hypertension (WHO group I) in patients with WHO class II or III symptoms to improve exercise capacity and delay clinical worsening
National Library of Medicine Drug Information Portal - macitentan(Brand name: Opsumit) Manufactured by Actelion Pharmaceuticals Ltd
FDA-approved indication: Treatment of pulmonary arterial hypertension (PAH, WHO Group 1) to delay disease progression. Disease progression included: death, initiation of intravenous (IV) or subcutaneous prostanoids, or clinical worsening of PAH (decreased 6-minute walk distance, worsened PAH symptoms and need for additional PAH treatment). Opsumit also reduced hospitalization for PAH.
National Library of Medicine Drug Information Portal - Treprostinil(Brand name: Remodulin®) Manufactured by United Therapeutics Corp.
FDA-approved indication: Treatment of pulmonary arterial hypertension.
National Library of Medicine Drug Information Portal - Bosentan(Brand name: Tracleer) Manufactured by Actelion Life Sciences Ltd.
FDA-approved indication: Treatment of pulmonary arterial hypertension.
National Library of Medicine Drug Information Portal
Medline Plus Health Information - Selexipag(Brand name: Uptravi) Manufactured by Actelion Ltd
FDA-approved indication: For use of Uptravi (Selexipag) Tablets, 200, 400, 600, 800, 1000, 1200, 1400, and 1600 mcg for treatment of pulmonary arterial hypertension (PAH, WHO Group I) to reduce the risks of disease progression and hospitalization for PAH.
National Library of Medicine Drug Information Portal - Iloprost(Brand name: Ventavis) Manufactured by CoTherix, Inc.
FDA-approved indication: Treatment of pulmonary arterial hypertension (WHO Group I) in patients with NYHA Class III or IV symptoms.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Rarer forms of pulmonary hypertension include pulmonary veno-occlusive disease /pulmonary capillary hemangiotosis (PVOD /PCH, see these terms).Differential diagnoses include asthma, chronic obstructive pulmonary disease, hypoplastic left heart syndrome, chronic thromboembolic pulmonary hypertension and complete atrio-ventricular canal left heart obstruction (see these terms).
Visit the Orphanet disease page for more information.
|
Organizations
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.
Organizations Supporting this Disease
-
Phaware Global Association (phaware)
1227 N. Avon St.
Burbank, CA 91505
Telephone: 844-PHAWARE (844-742-9273)
E-mail: [email protected]
Website: https://www.phaware.global/ -
Pulmonary Hypertension Association
801 Roeder Road, Suite 1000
Silver Spring, MD 20910
Telephone: 301-565-3004
Fax: 301-565-3994
E-mail: [email protected]
Website: https://www.phassociation.org/
Social Networking Websites
-
RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
Organizations Providing General Support
-
American Heart Association
7272 Greenville Avenue
Dallas, TX 75231-4596
Toll-free: 800-242-8721
Telephone: 214-570-5978
E-mail: https://www.heart.org/en/forms/general-questions-and-latest-research-information
Website: https://www.heart.org
Learn more
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.
Where to Start
- The American Heart Association has an information page on pulmonary hypertension. You can access this information by clicking on the link above.
- The American Lung Association has an information page on pulmonary hypertension. To access this information, click on the link above.
- You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- MedlinePlus Genetics contains information on Pulmonary arterial hypertension. This website is maintained by the National Library of Medicine.
- The National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Pulmonary arterial hypertension. Click on the link to view a sample search on this topic.
Press Releases
- The U.S. Food and Drug Administration (FDA) approved a new orphan drug called Letairis for the treatment of pulmonary arterial hypertension. To read the news release regarding this drug, click on the link.
References
- Huang WC, Hsu CH, Sung SH, Ho WJ, Chu CY, et al. TSOC pulmonary hypertension committee. 2018 TSOC guideline focused update on diagnosis and treatment of pulmonary arterial hypertension. J Formos Med Assoc. Dec 2019; 118(12):1584-1609. https://pubmed.ncbi.nlm.nih.gov/30926248/.
- Galiè N, Channick RN, Frantz RP, Grünig E, Jing ZC, Moiseeva O, et al. Risk stratification and medical therapy of pulmonary arterial hypertension. Eur Respir J. Jan 24, 2019; 53(1):1801889. https://pubmed.ncbi.nlm.nih.gov/30545971/.
- Rubin LJ, Hopkins W. The epidemiology and pathogenesis of pulmonary arterial hypertension (Group 1). UpToDate. last updated: Feb 29, 2020; https://www.uptodate.com/contents/the-epidemiology-and-pathogenesis-of-pulmonary-arterial-hypertension-group-1.
- Hopkins W, Rubin LJ. Treatment of pulmonary arterial hypertension (group 1) in adults: Pulmonary hypertension-specific therapy. UpToDate. last updated: Aug 20, 2020; https://www.uptodate.com/contents/treatment-of-pulmonary-arterial-hypertension-group-1-in-adults-pulmonary-hypertension-specific-therapy.
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