Chronic thromboembolic pulmonary hypertension
Synonyms: CTEPH
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Elderly
- Status
- active
A rare complication of acute pulmonary embolism (PE), either symptomatic or not, that is characterized by fibrotic intravascular material occlusion of pulmonary arteries in combination with a secondary microvasculopathy of vessels less than 500 µm. The consequence is an increase in pulmonary vascular resistance (PVR) and progressive right heart failure.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chronic thromboembolic pulmonary hypertension | CTEPH |
| fr | Hypertension pulmonaire thromboembolique chronique | HPTC |
| de | Chronische thromboembolische pulmonale Hypertonie | CTEPH · Hypertension, chronische thromboembolische pulmonale |
| es | Hipertensión pulmonar tromboembólica crónica | |
| it | Ipertensione polmonare tromboembolica cronica | |
| nl | Chronische trombo-embolische pulmonale hypertensie | = en |
| pt | Hipertensão pulmonar tromboembólica crónica | |
| pl | Przewlekłe zakrzepowo-zatorowe nadciśnienie płucne | = en |
| cs | Chronická tromboembolická plicní hypertenze | = en |
| uk | Хронічна тромбоемболічна легенева гіпертензія | = en |
| zh | 慢性血栓栓塞性肺动脉高压 | = en |
| tr | Kronik tromboembolik pulmoner hipertansiyon | KTEPH |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612862 | E | validated | |
| ICD-10 | I27.2 | NTBT | attributed | validated |
| ICD-11 | BB01.3 | E | specific | validated |
| MONDO | 0013024 | E | validated | |
| UMLS | C2363973 | E | validated | |
| GARD | 13124 | E | validated | |
| MedDRA | 10068739 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:71198Rare pulmonary hypertension
rare respiratory diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | EXPERT |
| Annual incidence | 1-9 / 100 000 | 4.2 / 100 000 | Europe | Value and class | Validated | 28356407[PMID] |
| Annual incidence | 1-9 / 100 000 | 5.1 / 100 000 | United States | Value and class | Validated | 28356407[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.9 / 100 000 | Japan | Value and class | Validated | 28356407[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
37 annotations · validated 2019-06-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001635 | Congestive heart failure | |
| HP:0005317 | Increased pulmonary vascular resistance | |
| HP:0002092 | Pulmonary arterial hypertension | |
| Frequent (79-30%) | ||
| HP:0002625 | Deep venous thrombosis | |
| HP:0002875 | Exertional dyspnea | |
| HP:0012378 | Fatigue | |
| HP:0001962 | Palpitations | |
| HP:0002204 | Pulmonary embolism | |
| HP:0030877 | Reduced FEV1/FVC ratio | |
| HP:0002792 | Reduced vital capacity | |
| Occasional (29-5%) | ||
| HP:0005135 | Abnormal T-wave | |
| HP:0005162 | Abnormal left ventricular function | |
| HP:0001871 | Abnormality of blood and blood-forming tissues | |
| HP:0012146 | Abnormality of von Willebrand factor | |
| HP:0003613 | Antiphospholipid antibody positivity | |
| HP:0002960 | Autoimmunity | |
| HP:0001693 | Cardiac shunt | |
| HP:0010536 | Central sleep apnea | |
| HP:0000716 | Depression | |
| HP:0011901 | Dysfibrinogenemia | |
| HP:0000969 | Edema | |
| HP:0011227 | Elevated circulating C-reactive protein concentration | |
| HP:0012417 | Hypocapnia | |
| HP:0012184 | Increased HDL cholesterol concentration | |
| HP:0030977 | Increased factor VIII activity | |
| HP:0025343 | Lupus anticoagulant | |
| HP:0001513 | Obesity | |
| HP:0004831 | Recurrent thromboembolism | |
| HP:0030718 | Right atrial enlargement | |
| HP:0011712 | Right bundle branch block | |
| HP:0005133 | Right ventricular dilatation | |
| HP:0001708 | Right ventricular failure | |
| HP:0001279 | Syncope | |
| Very rare (<4-1%) | ||
| HP:0002037 | Inflammation of the large intestine | |
| HP:0005547 | Myeloproliferative disorder | |
| HP:0002664 | Neoplasm | |
| HP:0002754 | Osteomyelitis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 30576568[PMID]_30768356[PMID]_31084984[PMID]_31023842[PMID]_19165231[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/70591
- This record as JSON: /data/d/70591.json