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Pulmonary embolism

MedGen UID:
11027
Concept ID:
C0034065
Pathologic Function
Synonym: Pulmonary embolism (disease)
SNOMED CT: PE - Pulmonary embolism (59282003); Pulmonary embolism (59282003)
 
HPO: HP:0002204
Monarch Initiative: MONDO:0005279

Definition

An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery. [from HPO]

Conditions with this feature

Protein-losing enteropathy
MedGen UID:
19522
Concept ID:
C0033680
Disease or Syndrome
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) is characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption. Some patients also exhibit bowel inflammation, recurrent infections associated with hypogammaglobulinemia, and/or angiopathic thromboembolic disease. Patient T lymphocytes show increased complement activation, causing surface deposition of complement and generating soluble C5a (Ozen et al., 2017).
Hereditary antithrombin deficiency
MedGen UID:
75781
Concept ID:
C0272375
Disease or Syndrome
Deficiency of antithrombin III is a major risk factor for venous thromboembolic disease. Two categories of AT-III deficiency have been defined on the basis of AT-III antigen levels in the plasma of affected individuals. The majority of AT-III deficiency families belong in the type I (classic) deficiency group and have a quantitatively abnormal phenotype in which antigen and heparin cofactor levels are both reduced to about 50% of normal. The second category of AT-III deficiency has been termed type II (functional) deficiency. Affected individuals from these kindreds produce dysfunctional AT-III molecules; they have reduced heparin cofactor activity levels (about 50% of normal) but levels of AT-III antigen are often normal or nearly normal (summary by Bock and Prochownik, 1987). The 2 categories of antithrombmin III deficiency have been classified further. Type I (low functional and immunologic antithrombin) has been subdivided into subtype Ia (reduced levels of normal antithrombin), and type Ib (reduced levels of antithrombin and the presence of low levels of a variant). Type II (low functional but normal immunologic antithrombin) has been subdivided into subtype IIa (functional abnormalities affecting both the reactive site and the heparin-binding site of AT3); subtype IIb (functional abnormalities limited to the reactive site); and subtype IIc (functional abnormalities limited to the heparin-binding site) (summary by Lane et al., 1992).
Factor 5 excess with spontaneous thrombosis
MedGen UID:
341996
Concept ID:
C1851378
Disease or Syndrome
Overhydrated hereditary stomatocytosis
MedGen UID:
348876
Concept ID:
C1861455
Disease or Syndrome
Overhydrated hereditary stomatocytosis is a variably compensated macrocytic hemolytic anemia of fluctuating severity, characterized by circulating erythrocytes with slit-like lucencies (stomata) evident on peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell Na+ content with reduced K+ content, with increased ouabain-resistant cation leak fluxes in the presence of presumably compensatory increases in ouabain-sensitive Na(+)-K(+) ATPase activity, and red cell age-dependent loss of stomatin/EBP7.2 (EBP72; 133090) from the erythroid membrane. Clinically, patients with OHST exhibit overhydrated erythrocytes and a temperature-dependent red cell cation leak. The temperature dependence of the leak is 'monotonic' and has a steep slope, reflecting the very large leak at 37 degrees centigrade (summary by Bruce, 2009 and Stewart et al., 2011). For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see 194380.
Thrombophilia due to protein C deficiency, autosomal dominant
MedGen UID:
436138
Concept ID:
C2674321
Disease or Syndrome
Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic (Millar et al., 2000). Individuals with decreased amounts of protein C are classically referred to as having type I deficiency and those with normal amounts of a functionally defective protein as having type II deficiency (Bertina et al., 1984). Acquired protein C deficiency is a clinically similar disorder caused by development of an antibody against protein C. Clouse and Comp (1986) reviewed the structural and functional properties of protein C and discussed both hereditary and acquired deficiency of protein C.
Thrombophilia due to protein C deficiency, autosomal recessive
MedGen UID:
394120
Concept ID:
C2676759
Disease or Syndrome
Autosomal recessive protein C deficiency resulting from homozygous or compound heterozygous PROC mutations is a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia (Millar et al., 2000).
Long QT syndrome 13
MedGen UID:
462083
Concept ID:
C3150733
Disease or Syndrome
Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the EKG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.
Thrombophilia due to thrombin defect
MedGen UID:
463623
Concept ID:
C3160733
Finding
Prothrombin thrombophilia is characterized by venous thromboembolism (VTE) manifest most commonly in adults as deep-vein thrombosis (DVT) in the legs or pulmonary embolism. The clinical expression of prothrombin thrombophilia is variable; many individuals heterozygous or homozygous for the 20210G>A F2 variant never develop thrombosis, and while most heterozygotes who develop thrombotic complications remain asymptomatic until adulthood, some have recurrent thromboembolism before age 30 years. The relative risk for DVT in adults heterozygous for the 20210G>A variant is two- to fivefold increased; in children, the relative risk for thrombosis is three- to fourfold increased. Heterozygosity for 20210G>A has at most a modest effect on recurrence risk after a first episode. Although prothrombin thrombophilia may increase the risk for pregnancy loss, its association with preeclampsia and other complications of pregnancy such as intrauterine growth restriction and placental abruption remains controversial. Factors that predispose to thrombosis in prothrombin thrombophilia include: the number of 20210G>A alleles; presence of coexisting genetic abnormalities including factor V Leiden; and acquired thrombophilic disorders (e.g., antiphospholipid antibodies). Circumstantial risk factors for thrombosis include pregnancy and oral contraceptive use. Some evidence suggests that the risk for VTE in 20210G>A heterozygotes increases after air travel.
Thrombophilia due to protein S deficiency, autosomal dominant
MedGen UID:
479841
Concept ID:
C3278211
Disease or Syndrome
Heterozygous protein S deficiency, like protein C deficiency (176860), is characterized by recurrent venous thrombosis. Bertina (1990) classified protein S deficiency into 3 clinical subtypes based on laboratory findings. Type I refers to deficiency of both free and total protein S as well as decreased protein S activity; type II shows normal plasma values, but decreased protein S activity; and type III shows decreased free protein S levels and activity, but normal total protein S levels. Approximately 40% of protein S circulates as a free active form, whereas the remaining 60% circulates as an inactive form bound to C4BPA (120830). Zoller et al. (1995) observed coexistence of type I and type III PROS1-deficient phenotypes within a single family and determined that the subtypes are allelic. Under normal conditions, the concentration of protein S exceeds that of C4BPA by approximately 30 to 40%. Thus, free protein S is the molar surplus of protein S over C4BPA. Mild protein S deficiency will thus present with selective deficiency of free protein S, whereas more pronounced protein S deficiency will also decrease the complexed protein S and consequently the total protein S level. These findings explained why assays for free protein S have a higher predictive value for protein S deficiency. See also autosomal recessive thrombophilia due to protein S deficiency (THPH6; 614514), which is a more severe disorder.
Thrombomodulin-related bleeding disorder
MedGen UID:
482606
Concept ID:
C3280976
Disease or Syndrome
The role of thrombomodulin in thrombosis is controversial. Although there have been several reports of THBD mutations in patients with venous thrombosis, clear functional evidence for the pathogenicity of these mutations is lacking. In a review, Anastasiou et al. (2012) noted that thrombomodulin has a major role in capillary beds and that THBD variation may not be associated with large vessel thrombosis. It is likely that genetic or environmental risk factors in addition to THBD variation are involved in the pathogenesis of venous thrombosis. However, variation in the THBD gene may be associated with increased risk for arterial thrombosis and myocardial infarction. This association may be attributed to the fact that thrombomodulin can modulate inflammatory processes, complement activity, and fibrinolysis.
Thrombophilia due to protein S deficiency, autosomal recessive
MedGen UID:
482722
Concept ID:
C3281092
Disease or Syndrome
Autosomal recessive thrombophilia due to protein S deficiency is a very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage (Pung-amritt et al., 1999; Fischer et al., 2010), whereas others have recurrent thromboses later in childhood (Comp et al., 1984). See also autosomal dominant thrombophilia due to protein S deficiency (THPH5; 612336), a less severe disorder caused by heterozygous mutation in the PROS1 gene.
Thrombophilia, X-linked, due to factor 8 defect
MedGen UID:
1805414
Concept ID:
C5676879
Disease or Syndrome
X-linked thrombophilia due to factor VIII defect (THPH13) is associated with markedly elevated F8 levels and severe thrombophilia (summary by Simioni et al., 2021).

Professional guidelines

PubMed

Duffett L, Castellucci LA, Forgie MA
BMJ 2020 Aug 5;370:m2177. doi: 10.1136/bmj.m2177. PMID: 32759284
Bonkemeyer Millan S, Gan R, Townsend PE
Am Fam Physician 2019 Sep 1;100(5):298-305. PMID: 31478635
Jany B, Welte T
Dtsch Arztebl Int 2019 May 24;116(21):377-386. doi: 10.3238/arztebl.2019.0377. PMID: 31315808Free PMC Article

Curated

UK NICE Guideline NG158, Venous thromboembolic diseases: diagnosis, management and thrombophilia testing, 2023

Recent clinical studies

Etiology

Trott T, Bowman J
Emerg Med Clin North Am 2022 Aug;40(3):565-581. Epub 2022 Jul 8 doi: 10.1016/j.emc.2022.05.008. PMID: 35953217
Roy PM, Douillet D, Penaloza A
Trends Cardiovasc Med 2022 Jul;32(5):259-268. Epub 2021 Jun 29 doi: 10.1016/j.tcm.2021.06.002. PMID: 34214598
Howard L
Clin Med (Lond) 2019 May;19(3):243-247. doi: 10.7861/clinmedicine.19-3-247. PMID: 31092519Free PMC Article
Dado CD, Levinson AT, Bourjeily G
Clin Chest Med 2018 Sep;39(3):525-537. doi: 10.1016/j.ccm.2018.04.007. PMID: 30122177Free PMC Article
Doherty S
Aust Fam Physician 2017 Nov;46(11):816-820. PMID: 29101916

Diagnosis

Trott T, Bowman J
Emerg Med Clin North Am 2022 Aug;40(3):565-581. Epub 2022 Jul 8 doi: 10.1016/j.emc.2022.05.008. PMID: 35953217
Howard L
Clin Med (Lond) 2019 May;19(3):243-247. doi: 10.7861/clinmedicine.19-3-247. PMID: 31092519Free PMC Article
Essien EO, Rali P, Mathai SC
Med Clin North Am 2019 May;103(3):549-564. doi: 10.1016/j.mcna.2018.12.013. PMID: 30955521
Kline JA
Thromb Res 2018 Mar;163:207-220. Epub 2017 Jun 7 doi: 10.1016/j.thromres.2017.06.002. PMID: 28683951
Doherty S
Aust Fam Physician 2017 Nov;46(11):816-820. PMID: 29101916

Therapy

Fernando SM, Tran A, Cheng W, Sadeghirad B, Arabi YM, Cook DJ, Møller MH, Mehta S, Fowler RA, Burns KEA, Wells PS, Carrier M, Crowther MA, Scales DC, English SW, Kyeremanteng K, Kanji S, Kho ME, Rochwerg B
Chest 2022 Feb;161(2):418-428. Epub 2021 Aug 19 doi: 10.1016/j.chest.2021.08.050. PMID: 34419428
Zuo Z, Yue J, Dong BR, Wu T, Liu GJ, Hao Q
Cochrane Database Syst Rev 2021 Apr 15;4(4):CD004437. doi: 10.1002/14651858.CD004437.pub6. PMID: 33857326Free PMC Article
Marti C, John G, Konstantinides S, Combescure C, Sanchez O, Lankeit M, Meyer G, Perrier A
Eur Heart J 2015 Mar 7;36(10):605-14. Epub 2014 Jun 10 doi: 10.1093/eurheartj/ehu218. PMID: 24917641Free PMC Article
Barrera LM, Perel P, Ker K, Cirocchi R, Farinella E, Morales Uribe CH
Cochrane Database Syst Rev 2013 Mar 28;(3):CD008303. doi: 10.1002/14651858.CD008303.pub2. PMID: 23543562
Kahn SR, Shrier I, Kearon C
Thromb Res 2008;122(6):763-73. Epub 2007 Dec 21 doi: 10.1016/j.thromres.2007.10.011. PMID: 18078981

Prognosis

Poor HD
Chest 2021 Oct;160(4):1471-1480. Epub 2021 Jun 19 doi: 10.1016/j.chest.2021.06.016. PMID: 34153340Free PMC Article
Elgendy IY, Gad MM, Mansoor H, Mahmoud AN, Elbadawi A, Saad A, Saad M, Elkaryoni A, Secemsky EA, Mamas MA, Monreal M, Weinberg I, Pepine CJ
Mayo Clin Proc 2021 Aug;96(8):2102-2113. Epub 2021 Jun 15 doi: 10.1016/j.mayocp.2021.01.015. PMID: 34144802
Xue B, Li D, Lu C, King CR, Wildes T, Avidan MS, Kannampallil T, Abraham J
JAMA Netw Open 2021 Mar 1;4(3):e212240. doi: 10.1001/jamanetworkopen.2021.2240. PMID: 33783520Free PMC Article
Stein PD, Matta F, Hughes MJ
Am J Med 2021 May;134(5):621-625. Epub 2020 Nov 24 doi: 10.1016/j.amjmed.2020.10.029. PMID: 33245921
Sharifi M, Bay C, Skrocki L, Rahimi F, Mehdipour M; “MOPETT” Investigators
Am J Cardiol 2013 Jan 15;111(2):273-7. Epub 2012 Oct 24 doi: 10.1016/j.amjcard.2012.09.027. PMID: 23102885

Clinical prediction guides

Fitzsimmons J, Hart L, Oliver E, Mulla W
Am J Perinatol 2024 May;41(S 01):e2307-e2312. Epub 2023 Jun 19 doi: 10.1055/a-2112-8049. PMID: 37336499
Simon MA, Tan C, Hilden P, Gesner L, Julius B
Pulm Med 2021;2021:8880893. Epub 2021 Feb 19 doi: 10.1155/2021/8880893. PMID: 33688434Free PMC Article
García-Gómez LC, Castilla-Guerra L, de la Vega-Sánchez J, Olmo-Montes FJ, Colmenero-Camacho MÁ
Med Clin (Barc) 2020 May 8;154(9):338-343. Epub 2019 Nov 25 doi: 10.1016/j.medcli.2019.06.022. PMID: 31780215
Carrier M, Righini M, Le Gal G
J Thromb Haemost 2012 Aug;10(8):1486-90. doi: 10.1111/j.1538-7836.2012.04804.x. PMID: 22672341
Golec DB
Clin Lab Sci 2001 Fall;14(4):269-71. PMID: 11760826

Recent systematic reviews

Hillegass E, Lukaszewicz K, Puthoff M
Phys Ther 2022 Aug 4;102(8) doi: 10.1093/ptj/pzac057. PMID: 35567347
Zuo Z, Yue J, Dong BR, Wu T, Liu GJ, Hao Q
Cochrane Database Syst Rev 2021 Apr 15;4(4):CD004437. doi: 10.1002/14651858.CD004437.pub6. PMID: 33857326Free PMC Article
Suh YJ, Hong H, Ohana M, Bompard F, Revel MP, Valle C, Gervaise A, Poissy J, Susen S, Hékimian G, Artifoni M, Periard D, Contou D, Delaloye J, Sanchez B, Fang C, Garzillo G, Robbie H, Yoon SH
Radiology 2021 Feb;298(2):E70-E80. Epub 2020 Dec 15 doi: 10.1148/radiol.2020203557. PMID: 33320063Free PMC Article
Fields JM, Davis J, Girson L, Au A, Potts J, Morgan CJ, Vetter I, Riesenberg LA
J Am Soc Echocardiogr 2017 Jul;30(7):714-723.e4. Epub 2017 May 9 doi: 10.1016/j.echo.2017.03.004. PMID: 28495379
Marti C, John G, Konstantinides S, Combescure C, Sanchez O, Lankeit M, Meyer G, Perrier A
Eur Heart J 2015 Mar 7;36(10):605-14. Epub 2014 Jun 10 doi: 10.1093/eurheartj/ehu218. PMID: 24917641Free PMC Article

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    Curated

    • NICE, 2023
      UK NICE Guideline NG158, Venous thromboembolic diseases: diagnosis, management and thrombophilia testing, 2023

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