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Disease Profile

Pulmonary arterial hypertension

Prevalence
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

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

All ages

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ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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Other names (AKA)

Primary pulmonary hypertension; PPH; PAH;

Categories

Heart Diseases

Summary

Pulmonary arterial hypertension (PAH) 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. Symptoms include shortness of breath (dyspnea) during exercise and fainting spells. The symptoms tend to get worse over time and may include dizziness, swelling (edema) of the ankles or legs, chest pain, and a racing pulse. Some cases of PAH are due to genetic changes (mutations) in the BMPR2 gene and inherited in an autosomal dominant pattern. Most cases of PAH occur in individuals with no family history of the disorder. 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 underlying conditions such as connective tissue diseases, HIV infection, chronic hemolytic anemia, and congenital heart disease. PAH can also be induced by certain drugs and toxins. Diagnosis is based on the symptoms, clinical examination, and specialized testing. Treatment is focused on managing the symptoms and may include both surgery and medications. Lung transplantation is an option in the most severe cases. Diagnosis and treatment guidelines have been published in the medical literature.[1][2][3]

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
Autosomal dominant inheritance
0000006
Hypertension
0000822
Incomplete penetrance
0003829
Telangiectasia
0001009

Treatment

Treatment of pulmonary arterial hypertension (PAH) is focused on managing the symptoms. Treatment options include different medications as well as surgery. Some people with PAH need extra oxygen. In the most severe cases, lung transplantation may be an option. Treatment options have been published in the medical literature[1]

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).[1][4]

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.

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

    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

        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

              1. 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/.
              2. 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/.
              3. 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.
              4. 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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