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Thromboembolism

MedGen UID:
21532
Concept ID:
C0040038
Finding; Pathologic Function
Synonym: Thromboembolisms
SNOMED CT: Thromboembolic disorder (371039008); Thromboembolism (371039008); Thromboembolic disease (371039008); Thromboembolus (13713005); Thromboembolism (13713005); Thromboembolism - lesion (13713005)
 
HPO: HP:0001907

Definition

The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. [from HPO]

Conditions with this feature

Acquired polycythemia vera
MedGen UID:
45996
Concept ID:
C0032463
Neoplastic Process
Polycythemia vera (PV), the most common form of primary polycythemia, is caused by somatic mutation in a single hematopoietic stem cell leading to clonal hematopoiesis. PV is a myeloproliferative disorder characterized predominantly by erythroid hyperplasia, but also by myeloid leukocytosis, thrombocytosis, and splenomegaly. Familial cases of PV are very rare and usually manifest in elderly patients (Cario, 2005). PV is distinct from the familial erythrocytoses (see, e.g., ECYT1, 133100), which are caused by inherited mutations resulting in hypersensitivity of erythroid progenitors to hormonal influences or increased levels of circulating hormones, namely erythropoietin (EPO; 133170) (Prchal, 2005).
Cronkhite-Canada syndrome
MedGen UID:
129128
Concept ID:
C0282207
Disease or Syndrome
Cronkhite-Canada syndrome is characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea. It is associated with high morbidity (summary by Sweetser et al., 2012).
Classic homocystinuria
MedGen UID:
199606
Concept ID:
C0751202
Disease or Syndrome
Homocystinuria caused by cystathionine ß-synthase (CBS) deficiency is characterized by involvement of the eye (ectopia lentis and/or severe myopia), skeletal system (excessive height, long limbs, scolioisis, and pectus excavatum), vascular system (thromboembolism), and CNS (developmental delay/intellectual disability). All four ? or only one ? of the systems can be involved; expressivity is variable for all of the clinical signs. It is not unusual for a previously asymptomatic individual to present in adult years with only a thromboembolic event that is often cerebrovascular. Two phenotypic variants are recognized, B6-responsive homocystinuria and B6-non-responsive homocystinuria. B6-responsive homocystinuria is usually milder than the non-responsive variant. Thromboembolism is the major cause of early death and morbidity. IQ in individuals with untreated homocystinuria ranges widely, from 10 to 138. In B6-responsive individuals the mean IQ is 79 versus 57 for those who are B6-non-responsive. Other features that may occur include: seizures, psychiatric problems, extrapyramidal signs (e.g., dystonia), hypopigmentation of the skin and hair, malar flush, livedo reticularis, and pancreatitis.
Cobalamin C disease
MedGen UID:
341256
Concept ID:
C1848561
Disease or Syndrome
Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.
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.
Pulmonary hypertension, primary, 4
MedGen UID:
815528
Concept ID:
C3809198
Disease or Syndrome
Primary pulmonary hypertension is a rare progressive disease characterized by increased pulmonary artery pressure in the absence of common causes of pulmonary hypertension, such as chronic heart, lung, or thromboembolic disease. There is often vascular remodeling. The clinical presentation can be nonspecific, and patients often receive a diagnosis late in their clinical course (summary by Ma et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of primary pulmonary hypertension, see PPH1 (178600).
VEXAS syndrome
MedGen UID:
1765785
Concept ID:
C5435753
Disease or Syndrome
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome) is an adult-onset inflammatory disease that primarily affects males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death (summary by Beck et al., 2020).

Professional guidelines

PubMed

Joglar JA, Chung MK, Armbruster AL, Benjamin EJ, Chyou JY, Cronin EM, Deswal A, Eckhardt LL, Goldberger ZD, Gopinathannair R, Gorenek B, Hess PL, Hlatky M, Hogan G, Ibeh C, Indik JH, Kido K, Kusumoto F, Link MS, Linta KT, Marcus GM, McCarthy PM, Patel N, Patton KK, Perez MV, Piccini JP, Russo AM, Sanders P, Streur MM, Thomas KL, Times S, Tisdale JE, Valente AM, Van Wagoner DR; Peer Review Committee Members
Circulation 2024 Jan 2;149(1):e1-e156. Epub 2023 Nov 30 doi: 10.1161/CIR.0000000000001193. PMID: 38033089Free PMC Article
“The 2022 Hormone Therapy Position Statement of The North American Menopause Society” Advisory Panel
Menopause 2022 Jul 1;29(7):767-794. doi: 10.1097/GME.0000000000002028. PMID: 35797481
American College of Obstetricians and Gynecologists' Committee on Practice Bulletins—Obstetrics
Obstet Gynecol 2018 Jul;132(1):e1-e17. doi: 10.1097/AOG.0000000000002706. PMID: 29939938

Recent clinical studies

Etiology

Speth J
AORN J 2023 Nov;118(5):321-328. doi: 10.1002/aorn.14019. PMID: 37882602
Guntupalli SR, Spinosa D, Wethington S, Eskander R, Khorana AA
BMJ 2023 Jun 1;381:e072715. doi: 10.1136/bmj-2022-072715. PMID: 37263632
Lutsey PL, Zakai NA
Nat Rev Cardiol 2023 Apr;20(4):248-262. Epub 2022 Oct 18 doi: 10.1038/s41569-022-00787-6. PMID: 36258120Free PMC Article
Golemi I, Salazar Adum JP, Tafur A, Caprini J
Dis Mon 2019 Aug;65(8):249-298. Epub 2019 Jan 9 doi: 10.1016/j.disamonth.2018.12.005. PMID: 30638566
Bartholomew JR
Cleve Clin J Med 2017 Dec;84(12 Suppl 3):39-46. doi: 10.3949/ccjm.84.s3.04. PMID: 29257737

Diagnosis

Speth J
AORN J 2023 Nov;118(5):321-328. doi: 10.1002/aorn.14019. PMID: 37882602
Guntupalli SR, Spinosa D, Wethington S, Eskander R, Khorana AA
BMJ 2023 Jun 1;381:e072715. doi: 10.1136/bmj-2022-072715. PMID: 37263632
Lutsey PL, Zakai NA
Nat Rev Cardiol 2023 Apr;20(4):248-262. Epub 2022 Oct 18 doi: 10.1038/s41569-022-00787-6. PMID: 36258120Free PMC Article
Bartholomew JR
Cleve Clin J Med 2017 Dec;84(12 Suppl 3):39-46. doi: 10.3949/ccjm.84.s3.04. PMID: 29257737
Nicolaides AN, Fareed J, Kakkar AK, Comerota AJ, Goldhaber SZ, Hull R, Myers K, Samama M, Fletcher J, Kalodiki E, Bergqvist D, Bonnar J, Caprini JA, Carter C, Conard J, Eklof B, Elalamy I, Gerotziafas G, Geroulakos G, Giannoukas A, Greer I, Griffin M, Kakkos S, Lassen MR, Lowe GD, Markel A, Prandoni P, Raskob G, Spyropoulos AC, Turpie AG, Walenga JM, Warwick D
Int Angiol 2013 Apr;32(2):111-260. PMID: 24402349

Therapy

Cohen S, Reddy V
Curr Opin Rheumatol 2023 Nov 1;35(6):429-434. Epub 2023 Sep 7 doi: 10.1097/BOR.0000000000000972. PMID: 37682051
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
Carson JL, Stanworth SJ, Dennis JA, Trivella M, Roubinian N, Fergusson DA, Triulzi D, Dorée C, Hébert PC
Cochrane Database Syst Rev 2021 Dec 21;12(12):CD002042. doi: 10.1002/14651858.CD002042.pub5. PMID: 34932836Free PMC Article
O'Toole RV, Stein DM, Frey KP, O'Hara NN, Scharfstein DO, Slobogean GP, Taylor TJ, Haac BE, Carlini AR, Manson TT, Sudini K, Mullins CD, Wegener ST, Firoozabadi R, Haut ER, Bosse MJ, Seymour RB, Holden MB, Gitajn IL, Goldhaber SZ, Eastman AL, Jurkovich GJ, Vallier HA, Gary JL, Kleweno CP, Cuschieri J, Marvel D, Castillo RC; METRC
BMJ Open 2021 Mar 24;11(3):e041845. doi: 10.1136/bmjopen-2020-041845. PMID: 33762229Free PMC Article
Nazha B, Spyropoulos AC
J Hosp Med 2016 Sep;11(9):652-7. Epub 2016 Apr 21 doi: 10.1002/jhm.2594. PMID: 27098835

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
Schlitt A, Jordan K, Vordermark D, Schwamborn J, Langer T, Thomssen C
Dtsch Arztebl Int 2014 Mar 7;111(10):161-8. doi: 10.3238/arztebl.2014.0161. PMID: 24666651Free PMC Article
DePasquale EC, Fonarow GC
Heart Fail Clin 2013 Oct;9(4):437-49, viii. doi: 10.1016/j.hfc.2013.07.009. PMID: 24054477
Lip GY, Nieuwlaat R, Pisters R, Lane DA, Crijns HJ
Chest 2010 Feb;137(2):263-72. Epub 2009 Sep 17 doi: 10.1378/chest.09-1584. PMID: 19762550
Bhakta P, Biswas BK, Banerjee B
Yonsei Med J 2007 Oct 31;48(5):731-47. doi: 10.3349/ymj.2007.48.5.731. PMID: 17963329Free PMC Article

Clinical prediction guides

Chopard R, Albertsen IE, Piazza G
JAMA 2020 Nov 3;324(17):1765-1776. doi: 10.1001/jama.2020.17272. PMID: 33141212
Audu CO, Wakefield TW, Coleman DM
J Vasc Surg Venous Lymphat Disord 2019 May;7(3):452-462. Epub 2019 Mar 8 doi: 10.1016/j.jvsv.2018.12.012. PMID: 30853559
Franchini M, Martinelli I, Mannucci PM
Thromb Haemost 2016 Jan;115(1):25-30. Epub 2015 Aug 13 doi: 10.1160/TH15-06-0478. PMID: 26271270
Coleman DM, Stanley JC
J Vasc Surg 2015 Sep;62(3):779-85. Epub 2015 Jul 26 doi: 10.1016/j.jvs.2015.05.034. PMID: 26213273
Khorana AA, Kuderer NM, Culakova E, Lyman GH, Francis CW
Blood 2008 May 15;111(10):4902-7. Epub 2008 Jan 23 doi: 10.1182/blood-2007-10-116327. PMID: 18216292Free PMC Article

Recent systematic reviews

Goldštajn MŠ, Mikuš M, Ferrari FA, Bosco M, Uccella S, Noventa M, Török P, Terzic S, Laganà AS, Garzon S
Arch Gynecol Obstet 2023 Jun;307(6):1727-1745. Epub 2022 Jun 17 doi: 10.1007/s00404-022-06647-5. PMID: 35713694Free PMC Article
Hayssen H, Cires-Drouet R, Englum B, Nguyen P, Sahoo S, Mayorga-Carlin M, Siddiqui T, Turner D, Yesha Y, Sorkin JD, Lal BK
J Vasc Surg Venous Lymphat Disord 2022 Nov;10(6):1401-1409.e7. Epub 2022 Aug 2 doi: 10.1016/j.jvsv.2022.05.003. PMID: 35926802Free PMC Article
Tøndel BG, Morelli VM, Hansen JB, Braekkan SK
J Thromb Haemost 2022 Oct;20(10):2173-2186. Epub 2022 Jul 28 doi: 10.1111/jth.15813. PMID: 35815351Free PMC Article
Hillegass E, Lukaszewicz K, Puthoff M
Phys Ther 2022 Aug 4;102(8) doi: 10.1093/ptj/pzac057. PMID: 35567347
Key NS, Khorana AA, Kuderer NM, Bohlke K, Lee AYY, Arcelus JI, Wong SL, Balaban EP, Flowers CR, Francis CW, Gates LE, Kakkar AK, Levine MN, Liebman HA, Tempero MA, Lyman GH, Falanga A
J Clin Oncol 2020 Feb 10;38(5):496-520. Epub 2019 Aug 5 doi: 10.1200/JCO.19.01461. PMID: 31381464

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