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Elevated circulating D-dimer concentration

MedGen UID:
677042
Concept ID:
C0742969
Finding
Synonyms: D-dimer above reference range; Elevated D-dimer; Elevated D-dimers; Elevated fibrin degradation fragment concentration
SNOMED CT: D-dimer above reference range (449830004); Elevated D-dimer (449830004)
 
HPO: HP:0033106

Definition

An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated circulating D-dimer concentration

Conditions with this feature

Pseudo-TORCH syndrome 3
MedGen UID:
1708513
Concept ID:
C5394391
Disease or Syndrome
Pseudo-TORCH syndrome-3 (PTORCH3) is an autosomal recessive disorder of immune dysregulation and neuroinflammation apparent from early infancy. Affected individuals have developmental delay with acute episodes of fever and multisystemic organ involvement, including coagulopathy, elevated liver enzymes, and proteinuria, often associated with thrombotic microangiopathy. Brain imaging shows progressive intracranial calcifications, white matter abnormalities, and sometimes cerebral or cerebellar atrophy. Laboratory studies show abnormal elevation of interferon (IFN)-stimulated gene (ISG) transcripts consistent with a type I interferonopathy. The phenotype resembles the sequelae of intrauterine infection, but there is usually no evidence of an infectious agent. The disorder results from defects in negative regulation of the interferon immunologic pathway. Death in early childhood is common (summary by Duncan et al., 2019 and Gruber et al., 2020). For a discussion of genetic heterogeneity of PTORCH, see PTORCH1 (251290).

Recent clinical studies

Etiology

Siwiec-Kozlik A, Kuszmiersz P, Kasper L, Frolow M, Kozlik-Siwiec P, Iwaniec T, Kosalka-Wegiel J, Zareba L, Sladek K, Bazan JG, Bazan-Socha S, Dropinski J
Sci Rep 2022 Dec 9;12(1):21291. doi: 10.1038/s41598-022-25580-w. PMID: 36494464Free PMC Article
Borowiec A, Dąbrowski R, Kowalik I, Rusinowicz T, Hadzik-Błaszczyk M, Krupa R, Życińska K
Adv Med Sci 2020 Mar;65(1):97-101. Epub 2020 Jan 7 doi: 10.1016/j.advms.2019.12.007. PMID: 31923773
Wang Y, Tan X, Gao H, Yuan H, Hu R, Jia L, Zhu J, Sun L, Zhang H, Huang L, Zhao D, Gao P, Du J
Circulation 2018 Jan 16;137(3):259-269. Epub 2017 Nov 16 doi: 10.1161/CIRCULATIONAHA.117.030469. PMID: 29146682
Lowe GD
Pathophysiol Haemost Thromb 2003 Sep-2004 Dec;33(5-6):455-7. doi: 10.1159/000083845. PMID: 15692260
Mustonen P, Lepäntalo M, Lassila R
Arterioscler Thromb Vasc Biol 1998 Feb;18(2):244-9. doi: 10.1161/01.atv.18.2.244. PMID: 9484989

Diagnosis

Bertini M, D'Aniello E, Di Ienno L, Gibiino F, Tavazzi G, Volta CA, Contoli M, Papi A, Campo G, Ferrari R, Rapezzi C
ESC Heart Fail 2022 Feb;9(1):263-269. Epub 2021 Nov 10 doi: 10.1002/ehf2.13602. PMID: 34755468Free PMC Article
Borowiec A, Dąbrowski R, Kowalik I, Rusinowicz T, Hadzik-Błaszczyk M, Krupa R, Życińska K
Adv Med Sci 2020 Mar;65(1):97-101. Epub 2020 Jan 7 doi: 10.1016/j.advms.2019.12.007. PMID: 31923773
Wang Y, Tan X, Gao H, Yuan H, Hu R, Jia L, Zhu J, Sun L, Zhang H, Huang L, Zhao D, Gao P, Du J
Circulation 2018 Jan 16;137(3):259-269. Epub 2017 Nov 16 doi: 10.1161/CIRCULATIONAHA.117.030469. PMID: 29146682
Naruse H, Ishii J, Takahashi H, Kitagawa F, Okuyama R, Kawai H, Muramatsu T, Harada M, Yamada A, Motoyama S, Matsui S, Hayashi M, Sarai M, Watanabe E, Izawa H, Ozaki Y
Circ J 2017 Sep 25;81(10):1506-1513. Epub 2017 May 25 doi: 10.1253/circj.CJ-16-1272. PMID: 28539560
Mammen EF
Clin Lab Sci 2000 Fall;13(4):239-45. PMID: 11586511

Therapy

von Känel R, Princip M, Schmid JP, Barth J, Znoj H, Schnyder U, Meister-Langraf RE
BMC Cardiovasc Disord 2018 Nov 21;18(1):213. doi: 10.1186/s12872-018-0947-5. PMID: 30463526Free PMC Article
Zhang Z, Wang J, Guo M, Xiong M, Zhou Q, Li D, Shu J, Lu W, Sun D
Environ Sci Pollut Res Int 2016 Apr;23(7):6631-8. Epub 2015 Dec 9 doi: 10.1007/s11356-015-5871-y. PMID: 26645227
Mebazaa A, Spiro TE, Büller HR, Haskell L, Hu D, Hull R, Merli G, Schellong SW, Spyropoulos AC, Tapson VF, De Sanctis Y, Cohen AT
Circulation 2014 Jul 29;130(5):410-8. Epub 2014 Jun 26 doi: 10.1161/CIRCULATIONAHA.113.003126. PMID: 24970782
Rhind SG, Crnko NT, Baker AJ, Morrison LJ, Shek PN, Scarpelini S, Rizoli SB
J Neuroinflammation 2010 Jan 18;7:5. doi: 10.1186/1742-2094-7-5. PMID: 20082712Free PMC Article
Kaczyńska A, Kostrubiec M, Pacho R, Kunikowska J, Pruszczyk P
Thromb Res 2008;122(1):21-5. Epub 2007 Oct 10 doi: 10.1016/j.thromres.2007.08.020. PMID: 17931694

Prognosis

Borowiec A, Dąbrowski R, Kowalik I, Rusinowicz T, Hadzik-Błaszczyk M, Krupa R, Życińska K
Adv Med Sci 2020 Mar;65(1):97-101. Epub 2020 Jan 7 doi: 10.1016/j.advms.2019.12.007. PMID: 31923773
Wang Y, Tan X, Gao H, Yuan H, Hu R, Jia L, Zhu J, Sun L, Zhang H, Huang L, Zhao D, Gao P, Du J
Circulation 2018 Jan 16;137(3):259-269. Epub 2017 Nov 16 doi: 10.1161/CIRCULATIONAHA.117.030469. PMID: 29146682
Naruse H, Ishii J, Takahashi H, Kitagawa F, Okuyama R, Kawai H, Muramatsu T, Harada M, Yamada A, Motoyama S, Matsui S, Hayashi M, Sarai M, Watanabe E, Izawa H, Ozaki Y
Circ J 2017 Sep 25;81(10):1506-1513. Epub 2017 May 25 doi: 10.1253/circj.CJ-16-1272. PMID: 28539560
Kaczyńska A, Kostrubiec M, Pacho R, Kunikowska J, Pruszczyk P
Thromb Res 2008;122(1):21-5. Epub 2007 Oct 10 doi: 10.1016/j.thromres.2007.08.020. PMID: 17931694
Mammen EF
Clin Lab Sci 2000 Fall;13(4):239-45. PMID: 11586511

Clinical prediction guides

Borowiec A, Dąbrowski R, Kowalik I, Rusinowicz T, Hadzik-Błaszczyk M, Krupa R, Życińska K
Adv Med Sci 2020 Mar;65(1):97-101. Epub 2020 Jan 7 doi: 10.1016/j.advms.2019.12.007. PMID: 31923773
Wang Y, Tan X, Gao H, Yuan H, Hu R, Jia L, Zhu J, Sun L, Zhang H, Huang L, Zhao D, Gao P, Du J
Circulation 2018 Jan 16;137(3):259-269. Epub 2017 Nov 16 doi: 10.1161/CIRCULATIONAHA.117.030469. PMID: 29146682
Naruse H, Ishii J, Takahashi H, Kitagawa F, Okuyama R, Kawai H, Muramatsu T, Harada M, Yamada A, Motoyama S, Matsui S, Hayashi M, Sarai M, Watanabe E, Izawa H, Ozaki Y
Circ J 2017 Sep 25;81(10):1506-1513. Epub 2017 May 25 doi: 10.1253/circj.CJ-16-1272. PMID: 28539560
Kaczyńska A, Kostrubiec M, Pacho R, Kunikowska J, Pruszczyk P
Thromb Res 2008;122(1):21-5. Epub 2007 Oct 10 doi: 10.1016/j.thromres.2007.08.020. PMID: 17931694
Mastroroberto P, Chello M, Perticone F
Scand J Thorac Cardiovasc Surg 1996;30(2):77-81. doi: 10.3109/14017439609107246. PMID: 8857679

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