Pulmonary arterial hypertension

Title

Other Names:

Primary pulmonary hypertension; PPH; PAH; Primary pulmonary hypertension; PPH; PAH; Idiopathic pulmonary arterial hypertension; Idiopathic pulmonary hypertension; Heritable pulmonary arterial hypertension; Hereditary pulmonary arterial hypertension; Familial pulmonary arterial hypertension; FPAH See More

Categories:

Heart Diseases

Summary Summary

Pulmonary arterial hypertension (PAH) is a progressive condition that affects the heart and lungs. It is characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. The most common signs and symptoms are shortness of breath (dyspnea) during exertion and fainting spells. As the condition worsens, people can experience dizziness, swelling (edema) of the ankles or legs, chest pain, and a racing pulse. Most cases of PAH occur in individuals with no family history of the disorder. Although some cases are due to mutations in the BMPR2 gene and inherited in an autosomal dominant pattern, a gene mutation has not yet been identified in most individuals.^[1] When PAH is inherited from an affected relative it is called "familial" PAH. Cases with no identifiable cause may be referred to as "idiopathic" PAH. PAH can also occur secondary to an underlying disorder such as connective tissue diseases, HIV infection, chronic hemolytic anemia, and congenital heart disease, to name a few. PAH can also be induced by certain drugs and toxins, for example fenfluramine and dexfenfluramine (appetite suppressants now banned by the FDA), toxic rapeseed oil, and amphetamines.^[2]

Last updated: 9/20/2013

Symptoms 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.

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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
Autosomal dominant inheritance		0000006
Hypertension		0000822
Incomplete penetrance		0003829
Telangiectasia		0001009

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Last updated: 3/1/2020

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Treatment Treatment

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]

Last updated: 9/20/2013

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

Prognosis Prognosis

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]

Last updated: 9/20/2013

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases 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.

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.

Research Research

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.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Pulmonary arterial hypertension. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations 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

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
Phaware Global Association (phaware)
1227 N. Avon St.
Burbank, CA 91505
Telephone: 844-PHAWARE (844-742-9273)
E-mail: info@phaware.global
Website: http://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: PHA@PHAssociation.org
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).

Do you know of an organization? We want to hear from you.

Living With Living With

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.

Financial Resources

Good Days provides help to patients with life-altering conditions. Assistance includes help with the cost of medications and travel.
Patient Services, Inc (PSI) provides financial support and guidance for qualified patients with specific chronic diseases. PSI helps patients find solutions to the social and economic problems confronting patients with chronic conditions.

Learn More 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.
Genetics Home Reference (GHR) contains information on Pulmonary arterial hypertension. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

Pulmonary arterial hypertension. Genetics Home Reference. January 2007; http://ghr.nlm.nih.gov/condition/pulmonary-arterial-hypertension. Accessed 9/28/2011.
Rubin LJ, Hopkins W. Overview of pulmonary hypertension in adults. In: Basow DS. UpToDate. Waltham, MA: UpToDate; 2013;
Hopkins W, Rubin LJ. Treatment of pulmonary hypertension in adults. In: Basow, DS. UpToDate. Waltham, MA: UpToDate; 2013;

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