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Venous thrombosis

MedGen UID:
22631
Concept ID:
C0042487
Pathologic Function
Synonyms: Phlebothromboses; Phlebothrombosis; Thromboses, Venous; Thrombosis, Venous; Venous Thromboses; Venous Thrombosis
SNOMED CT: Venous thrombosis (111293003)
 
HPO: HP:0004936
OMIM®: 188050

Definition

Thrombophilia is a multifactorial disorder of inappropriate clot formation resulting from an interaction of genetic, acquired, and circumstantial predisposing factors. Venous thromboembolism most commonly manifests as deep vein thrombosis, which may progress to pulmonary embolism if the clot dislodges and travels to the lung. Other manifestations include thromboses of the cerebral or visceral veins and recurrent pregnancy loss (summary by Seligsohn and Lubetsky, 2001 and Varga and Kujovich, 2012). Genetic Heterogeneity of Thrombophilia THPH2 (188055) is caused by mutation in the F5 gene (612309) on chromosome 1q23; THPH3 (176860) and THPH4 (612304) are both caused by mutation in the PROC gene (612283) on 2q; THPH5 (612336) and THPH6 (614514) are caused by mutation in the PROS1 gene (176880) on 3q11; THPH7 (613118) is caused by mutation in the AT3 gene (107300) on 1q25; THPH8 (300807) is caused by mutation in the F9 gene (300746) on Xq27; THPH9 (612348) is associated with decreased release of tissue plasminogen activator (PLAT; 173370); THPH10 (612356) is caused by mutation in the HCF2 gene (142360) on 22q11; THPH11 (613116) is caused by mutation in the HRG gene (142640) on 3q27; and THPH12 (614486) is associated with variation in the THBD gene (188040) on 20p11. Susceptibility to thrombosis has also been associated with variation in additional genes, including MTHFR (607093.0003); F13B (134580.0003); plasminogen activator inhibitor (SERPINE1; 173360); and several genes encoding fibrinogen (FGA, 134820; FGB, 134830; FGG, 134850). Variation in the SERPINA10 (see 605271.0001), KNG1 (612358) and HABP2 (603924) genes has also been reported. Protection against venous thrombosis is associated with variation in the F13A1 gene (134570) on 6p25. [from OMIM]

Conditions with this feature

Idiopathic hypereosinophilic syndrome
MedGen UID:
61525
Concept ID:
C0206141
Disease or Syndrome
PDGFRA-associated chronic eosinophilic leukemia is a form of blood cell cancer characterized by an elevated number of cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRA-associated chronic eosinophilic leukemia.\n\nAnother characteristic feature of PDGFRA-associated chronic eosinophilic leukemia is organ damage caused by the excess eosinophils. Eosinophils release substances to aid in the immune response, but the release of excessive amounts of these substances causes damage to one or more organs, most commonly the heart, skin, lungs, or nervous system. Eosinophil-associated organ damage can lead to a heart condition known as eosinophilic endomyocardial disease, skin rashes, coughing, difficulty breathing, swelling (edema) in the lower limbs, confusion, changes in behavior, or impaired movement or sensations. People with PDGFRA-associated chronic eosinophilic leukemia can also have an enlarged spleen (splenomegaly) and elevated levels of certain chemicals called vitamin B12 and tryptase in the blood.\n\nSome people with PDGFRA-associated chronic eosinophilic leukemia have an increased number of other types of white blood cells, such as neutrophils or mast cells. Occasionally, people with PDGFRA-associated chronic eosinophilic leukemia develop other blood cell cancers, such as acute myeloid leukemia or B-cell or T-cell acute lymphoblastic leukemia or lymphoblastic lymphoma.\n\nPDGFRA-associated chronic eosinophilic leukemia is often grouped with a related condition called hypereosinophilic syndrome. These two conditions have very similar signs and symptoms; however, the cause of hypereosinophilic syndrome is unknown.
Familial antiphospholipid syndrome
MedGen UID:
419641
Concept ID:
C2930802
Disease or Syndrome
The designation 'antiphospholipid syndrome' was proposed for the association of arterial and venous thrombosis, recurrent fetal loss, and immune thrombocytopenia with a spectrum of autoantibodies directed against cellular phospholipid components. Anticardiolipin antibodies may react with cardiolipin and with other negatively charged phospholipids, including beta-2-glycoprotein I (B2GPI, APOH; 138700). The term 'lupus anticoagulant' refers to a heterogeneous group of antibodies, most commonly of the IgG type, that are detected by their inhibitory effect on coagulant-active phospholipid components of in vitro coagulation tests (summary by Matthey et al., 1989). Shoenfeld et al. (2008) noted that antiphospholipid syndrome is characterized by up to 30 different autoantibodies, including those against platelets, glycoproteins, coagulation factors, lamins, mitochondrial antigens, and cell surface markers. Some of these may have an additive effect on the prothrombotic tendency of the syndrome. Ruiz-Irastorza et al. (2010) reviewed pathophysiologic, clinical, diagnostic, and therapeutic advances related to the antiphospholipid syndrome. Various autoimmune disorders that cluster in families, including autoimmune thrombocytopenia (188030), are discussed elsewhere (e.g., 109100, 269200).
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
MedGen UID:
1684821
Concept ID:
C5201145
Disease or Syndrome
Glycosylphosphatidylinositol is a glycolipid that anchors more than 150 proteins to the cell surface, and these proteins, termed GPI-anchored proteins (GPI-APs), perform a variety of functions as enzymes, adhesion molecules, complement regulators, and coreceptors in signal transduction pathways. Reduced surface levels of GPI-APs or abnormal GPI-AP structure can therefore result in variable manifestations. Glycosylphosphatidylinositol biosynthesis defect-1 (GPIBD1) is characterized predominantly by portal hypertension due to portal vein thrombosis. Most patients have absence seizures, cerebral thrombosis, and macrocephaly. Some patients have mildly to moderately impaired intellectual development (summary by Makrythanasis et al., 2016; Pode-Shakked et al., 2019). Genetic Heterogeneity of Glycosylphosphatidylinositol Biosynthesis Defects Also see GPIBD2 (239300), caused by mutation in the PIGV gene (610274); GPIBD3 (614080), caused by mutation in the PIGN gene (606097); GPIBD4 (300868), caused by mutation in the PIGA gene (311770); GPIBD5 (280000), caused by mutation in the PIGL gene (605947); GPIBD6 (614749), caused by mutation in the PIGO gene (614730); GPIBD7 (615398), caused by mutation in the PIGT gene (610272); GPIBD8 (614207), caused by mutation in the PGAP2 gene (615187); GPIBD9 (615802), caused by mutation in the PGAP1 gene (611655); GPIBD10 (615716), caused by mutation in the PGAP3 gene (611801); GPIBD11 (616025), caused by mutation in the PIGW gene (610275); GPIBD12 (616809), caused by mutation in the PIGY gene (610662); GPIBD13 (616917), caused by mutation in the PIGG gene (616918); GPIBD14 (617599), caused by mutation in the PIGP gene (605938); GPIBD15 (617810), caused by mutation in the GPAA1 gene (603048); GPIBD16 (617816), caused by mutation in the PIGC gene (601730); GPIBD17 (618010), caused by mutation in the PIGH gene (600154); GPIBD18 (618143), caused by mutation in the PIGS gene (610271); GPIBD19 (618548), caused by mutation in the PIGQ gene (605754); GPIBD20 (618580), caused by mutation in the PIGB gene (604122); GPIBD21 (618590), caused by mutation in the PIGU gene (608528); GPIBD22 (618879), caused by mutation in the PIGK gene (605087); GPIBD23 (617020), caused by mutation in the ARV1 gene (611647); GPIBD24 (619356), caused by mutation in the PIGF gene (600153); and GPIBD25 (619985), caused by mutation in the C18ORF32 gene (619979).

Professional guidelines

PubMed

Bonkemeyer Millan S, Gan R, Townsend PE
Am Fam Physician 2019 Sep 1;100(5):298-305. PMID: 31478635
Tektonidou MG, Andreoli L, Limper M, Amoura Z, Cervera R, Costedoat-Chalumeau N, Cuadrado MJ, Dörner T, Ferrer-Oliveras R, Hambly K, Khamashta MA, King J, Marchiori F, Meroni PL, Mosca M, Pengo V, Raio L, Ruiz-Irastorza G, Shoenfeld Y, Stojanovich L, Svenungsson E, Wahl D, Tincani A, Ward MM
Ann Rheum Dis 2019 Oct;78(10):1296-1304. Epub 2019 May 15 doi: 10.1136/annrheumdis-2019-215213. PMID: 31092409Free PMC Article
Trayes KP, Studdiford JS, Pickle S, Tully AS
Am Fam Physician 2013 Jul 15;88(2):102-10. PMID: 23939641

Recent clinical studies

Etiology

Navarrete S, Solar C, Tapia R, Pereira J, Fuentes E, Palomo I
Clin Exp Med 2023 Jul;23(3):645-654. Epub 2022 Apr 26 doi: 10.1007/s10238-022-00829-w. PMID: 35471714
Cohen O, Pegoraro S, Ageno W
Minerva Med 2021 Dec;112(6):755-766. Epub 2021 Feb 8 doi: 10.23736/S0026-4806.21.07353-5. PMID: 33555165
Ferro JM, Aguiar de Sousa D
Curr Neurol Neurosci Rep 2019 Aug 23;19(10):74. doi: 10.1007/s11910-019-0988-x. PMID: 31440838
Olaf M, Cooney R
Emerg Med Clin North Am 2017 Nov;35(4):743-770. Epub 2017 Aug 23 doi: 10.1016/j.emc.2017.06.003. PMID: 28987427
Connors JM
N Engl J Med 2017 Sep 21;377(12):1177-1187. doi: 10.1056/NEJMra1700365. PMID: 28930509

Diagnosis

Saposnik G, Bushnell C, Coutinho JM, Field TS, Furie KL, Galadanci N, Kam W, Kirkham FC, McNair ND, Singhal AB, Thijs V, Yang VXD; American Heart Association Stroke Council; Council on Cardiopulmonary, Critical Care, Perioperative and Resuscitation; Council on Cardiovascular and Stroke Nursing; and Council on Hypertension
Stroke 2024 Mar;55(3):e77-e90. Epub 2024 Jan 29 doi: 10.1161/STR.0000000000000456. PMID: 38284265
Cohen O, Pegoraro S, Ageno W
Minerva Med 2021 Dec;112(6):755-766. Epub 2021 Feb 8 doi: 10.23736/S0026-4806.21.07353-5. PMID: 33555165
Ferro JM, Aguiar de Sousa D
Curr Neurol Neurosci Rep 2019 Aug 23;19(10):74. doi: 10.1007/s11910-019-0988-x. PMID: 31440838
Olaf M, Cooney R
Emerg Med Clin North Am 2017 Nov;35(4):743-770. Epub 2017 Aug 23 doi: 10.1016/j.emc.2017.06.003. PMID: 28987427
Connors JM
N Engl J Med 2017 Sep 21;377(12):1177-1187. doi: 10.1056/NEJMra1700365. PMID: 28930509

Therapy

Potere N, Ageno W
Pol Arch Intern Med 2023 Aug 30;133(7-8) Epub 2023 Aug 7 doi: 10.20452/pamw.16543. PMID: 37548526
Middleton P, Shepherd E, Gomersall JC
Cochrane Database Syst Rev 2021 Mar 29;3(3):CD001689. doi: 10.1002/14651858.CD001689.pub4. PMID: 33779986Free PMC Article
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
Pesavento R, Bernardi E, Concolato A, Dalla Valle F, Pagnan A, Prandoni P
Semin Thromb Hemost 2006 Oct;32(7):744-51. doi: 10.1055/s-2006-951460. PMID: 17024603
Hopfner R
Curr Opin Investig Drugs 2002 Feb;3(2):246-51. PMID: 12020054

Prognosis

Zambrano MD, Miller EC
Curr Atheroscler Rep 2019 Jun 22;21(9):33. doi: 10.1007/s11883-019-0798-2. PMID: 31230137Free PMC Article
Arabi YM, Al-Hameed F, Burns KEA, Mehta S, Alsolamy SJ, Alshahrani MS, Mandourah Y, Almekhlafi GA, Almaani M, Al Bshabshe A, Finfer S, Arshad Z, Khalid I, Mehta Y, Gaur A, Hawa H, Buscher H, Lababidi H, Al Aithan A, Abdukahil SAI, Jose J, Afesh LY, Al-Dawood A; Saudi Critical Care Trials Group
N Engl J Med 2019 Apr 4;380(14):1305-1315. Epub 2019 Feb 18 doi: 10.1056/NEJMoa1816150. PMID: 30779530
Timp JF, Braekkan SK, Versteeg HH, Cannegieter SC
Blood 2013 Sep 5;122(10):1712-23. Epub 2013 Aug 1 doi: 10.1182/blood-2013-04-460121. PMID: 23908465
Grabowski G, Whiteside WK, Kanwisher M
J Am Acad Orthop Surg 2013 Feb;21(2):108-17. doi: 10.5435/JAAOS-21-02-108. PMID: 23378374
Yang JY, Chan AK
Thromb Res 2010 Dec;126(6):471-6. Epub 2010 Nov 12 doi: 10.1016/j.thromres.2010.10.009. PMID: 21074830

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
Heldner MR, Zuurbier SM, Li B, Von Martial R, Meijers JCM, Zimmermann R, Volbers B, Jung S, El-Koussy M, Fischer U, Kohler HP, Schroeder V, Coutinho JM, Arnold M
Neurology 2020 Aug 18;95(7):e898-e909. Epub 2020 Jun 23 doi: 10.1212/WNL.0000000000009998. PMID: 32576633
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
Czihal M, Hoffmann U
Vasc Med 2011 Jun;16(3):191-202. Epub 2011 Feb 22 doi: 10.1177/1358863X10395657. PMID: 21343260
Le Gal G, Righini M, Roy PM, Sanchez O, Aujesky D, Bounameaux H, Perrier A
Ann Intern Med 2006 Feb 7;144(3):165-71. doi: 10.7326/0003-4819-144-3-200602070-00004. PMID: 16461960

Recent systematic reviews

Fu H, Hou D, Xu R, You Q, Li H, Yang Q, Wang H, Gao J, Bai D
Int J Nurs Stud 2024 Jan;149:104623. Epub 2023 Oct 19 doi: 10.1016/j.ijnurstu.2023.104623. PMID: 37944356
Nepal G, Kharel S, Bhagat R, Ka Shing Y, Ariel Coghlan M, Poudyal P, Ojha R, Sunder Shrestha G
Acta Neurol Scand 2022 Jan;145(1):10-23. Epub 2021 Jul 21 doi: 10.1111/ane.13506. PMID: 34287841
Dragoman MV, Tepper NK, Fu R, Curtis KM, Chou R, Gaffield ME
Int J Gynaecol Obstet 2018 Jun;141(3):287-294. Epub 2018 Feb 22 doi: 10.1002/ijgo.12455. PMID: 29388678Free PMC Article
Raskob GE, Angchaisuksiri P, Blanco AN, Buller H, Gallus A, Hunt BJ, Hylek EM, Kakkar A, Konstantinides SV, McCumber M, Ozaki Y, Wendelboe A, Weitz JI; ISTH Steering Committee for World Thrombosis Day
Arterioscler Thromb Vasc Biol 2014 Nov;34(11):2363-71. doi: 10.1161/ATVBAHA.114.304488. PMID: 25304324
de Bastos M, Stegeman BH, Rosendaal FR, Van Hylckama Vlieg A, Helmerhorst FM, Stijnen T, Dekkers OM
Cochrane Database Syst Rev 2014 Mar 3;2014(3):CD010813. doi: 10.1002/14651858.CD010813.pub2. PMID: 24590565Free PMC Article

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