Rare Medical News

Disease Profile

Chronic thromboembolic pulmonary 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.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

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

no.svg

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

no.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

CTEPH

Categories

Lung Diseases

Summary

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] 

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
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 left ventricular function
0005162
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
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

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.

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.

References

  1. Lang IM & Madani M. Update on Chronic Thromboembolic Pulmonary Hypertension. Circulation. 2014; 130:508-518. https://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:https://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.