National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Chronic thromboembolic pulmonary hypertension


Other Names:
CTEPH
Categories:
Chronic thromboembolic pulmonary hypertension (CTEPH) is a unique pulmonary vascular disease caused by chronic block of the major lung arteries. Signs and symptoms commonly include progressive breathing difficulties (dyspnea) on exertion, fatigue, palpitations, loss of consciousness (syncope), or swelling (edema). The disease may appear a few months or many years after the sudden blockage in a lung artery by a blood clot (acute pulmonary embolism). However, up to 60% of patients have no history of acute pulmonary embolism.[1] Some people with this disease may have clotting problems. Research suggests there may be a genetic predisposition leading to abnormal vascular healing after pulmonary embolism in susceptible individuals, but no specific gene mutations have been identified in CTEPH.[2][3] Curative treatment is done with pulmonary endarterectomy (a surgery that removes the blood clots in the lungs), and more recently by pulmonary balloon angioplasty (a procedure that opens up the vessels of the lung and increases blood flow).[1][2] 
Last updated: 10/18/2016

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
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HPO ID
80%-99% of people have these symptoms
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure
[ more ] 		0001635
Increased pulmonary vascular resistance 0005317
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
30%-79% of people have these symptoms
Deep venous thrombosis
Blood clot in a deep vein
0002625
Exertional dyspnea 0002875
Fatigue
Tired
Tiredness
[ more ] 		0012378
Palpitations
Missed heart beat
Skipped heart beat
[ more ] 		0001962
Pulmonary embolism
Blood clot in artery of lung
0002204
Reduced FEV1/FVC ratio 0030877
Reduced vital capacity 0002792
5%-29% of people have these symptoms
Abnormal T-wave 0005135
Abnormality of von Willebrand factor 0012146
Antiphospholipid antibody positivity 0003613
Cardiac shunt 0001693
Central sleep apnea 0010536
Depressivity
Depression
0000716
Dysfibrinogenemia 0011901
Edema
Fluid retention
Water retention
[ more ] 		0000969
Elevated C-reactive protein level 0011227
Hypocapnia
Reduced carbon dioxide in the blood
0012417
Increased factor VIII activity 0030977
Increased HDL cholesterol concentration
High blood HDL level
0012184
Left ventricular dysfunction 0005162
Lupus anticoagulant 0025343
Obesity
Having too much body fat
0001513
Recurrent thromboembolism 0004831
Right atrial enlargement 0030718
Right bundle branch block 0011712
Right ventricular dilatation 0005133
Right ventricular failure 0001708
Syncope
Fainting spell
0001279
1%-4% of people have these symptoms
Inflammation of the large intestine 0002037
Myeloproliferative disorder 0005547
Osteomyelitis
Bone infection
0002754
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Last updated: 7/1/2020

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

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.

In-Depth Information

  • 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.

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  1. Lang IM & Madani M. Update on Chronic Thromboembolic Pulmonary Hypertension. Circulation. 2014; 130:508-518. http://circ.ahajournals.org/content/130/6/508.
  2. Oka M, McMurtry IF & Oshima K. How does pulmonary endarterectomy cure CTEPH: A clue to cure PAH?. Am J Physiol Lung Cell Mol Physiol.. September 2, 2016; ajplung.00288:http://ajplung.physiology.org/content/311/4/L766.
  3. Lang IM, Dorfmüller P & Vonk Noordegraaf A. The Pathobiology of Chronic Thromboembolic Pulmonary Hypertension. Ann Am Thorac Soc. July, 2016; 13(3):S215-21. https://www.ncbi.nlm.nih.gov/pubmed/27571003.