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Resistance to activated protein C

MedGen UID:
109068
Concept ID:
C0600433
Disease or Syndrome
Synonyms: Activated Protein C Resistance; APC Resistance; Resistance, APC
 
HPO: HP:0012175
OMIM®: 188055

Definition

Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVResistance to activated protein C

Conditions with this feature

Thrombophilia due to activated protein C resistance
MedGen UID:
396074
Concept ID:
C1861171
Disease or Syndrome
Factor V Leiden thrombophilia is characterized by venous thromboembolism (VTE) manifesting most commonly in adults as deep vein thrombosis (DVT) in the legs or pulmonary embolism. Thrombosis in unusual locations is less common. Factors that predispose to VTE in factor V Leiden thrombophilia include: the number of factor V Leiden variant alleles (homozygotes have a much greater thrombotic risk); family history of VTE; presence of coexisting genetic thrombophilic disorders; acquired thrombophilic disorders (e.g., antiphospholipid antibody syndrome, paroxysmal nocturnal hemoglobinuria, myeloproliferative disorders); and circumstantial risk factors (e.g., pregnancy, malignancy, central venous catheters, travel, combined oral contraceptive use and other combined contraceptives, oral hormone replacement therapy [HRT], obesity, leg injury, and advancing age).

Professional guidelines

PubMed

Kluft C
Climacteric 2007 Oct;10 Suppl 2:32-7. doi: 10.1080/13697130701598548. PMID: 17882670
Reich LM, Bower M, Key NS
Genet Med 2003 May-Jun;5(3):133-43. doi: 10.1097/01.GIM.0000067987.77803.D0. PMID: 12792420
Hillarp A, Dahlbäck B, Zöller B
Blood Rev 1995 Dec;9(4):201-12. doi: 10.1016/s0268-960x(95)90011-x. PMID: 8839395

Recent clinical studies

Etiology

Finazzi G, De Stefano V, Barbui T
Curr Hematol Malig Rep 2013 Dec;8(4):307-16. doi: 10.1007/s11899-013-0176-z. PMID: 24037420
Saxena R, Kannan M, Choudhry VP
Indian J Pediatr 2003 Nov;70(11):903-7. doi: 10.1007/BF02730597. PMID: 14703231
Bertina RM, Reitsma PH, Rosendaal FR, Vandenbroucke JP
Thromb Haemost 1995 Jul;74(1):449-53. PMID: 8578504
Dahlbäck B
Blood 1995 Feb 1;85(3):607-14. PMID: 7833465
Dahlbäck B
Ann Med 1995 Apr;27(2):187-92. doi: 10.3109/07853899509031957. PMID: 7632412

Diagnosis

Saxena R, Kannan M, Choudhry VP
Indian J Pediatr 2003 Nov;70(11):903-7. doi: 10.1007/BF02730597. PMID: 14703231
Jones LC, Mont MA, Le TB, Petri M, Hungerford DS, Wang P, Glueck CJ
J Rheumatol 2003 Apr;30(4):783-91. PMID: 12672200
Francis JL
Semin Thromb Hemost 1998;24(2):111-26. doi: 10.1055/s-2007-995830. PMID: 9579632
Dahlbäck B
Rev Invest Clin 1997 May;49 Suppl 1:3-5. PMID: 9291738
Bertina RM
Thromb Haemost 1997 Jul;78(1):478-82. PMID: 9198200

Therapy

Maximiliano CL, Jaime GC, Armando VL, Vega IL, Victoria HG, Erika MH
Cardiovasc Hematol Disord Drug Targets 2023;22(4):237-244. doi: 10.2174/1871529X23666230123121602. PMID: 36694314
Rühl H, Schröder L, Müller J, Fimmers R, Sukhitashvili S, Welz J, Kuhn WC, Oldenburg J, Rudlowski C, Pötzsch B
Thromb Res 2014 May;133(5):886-91. Epub 2014 Feb 11 doi: 10.1016/j.thromres.2014.02.004. PMID: 24568775
Finazzi G, De Stefano V, Barbui T
Curr Hematol Malig Rep 2013 Dec;8(4):307-16. doi: 10.1007/s11899-013-0176-z. PMID: 24037420
Rosén SB, Sturk A
Eur J Clin Chem Clin Biochem 1997 Jul;35(7):501-16. PMID: 9263726
Bertina RM, Reitsma PH, Rosendaal FR, Vandenbroucke JP
Thromb Haemost 1995 Jul;74(1):449-53. PMID: 8578504

Prognosis

Jones LC, Mont MA, Le TB, Petri M, Hungerford DS, Wang P, Glueck CJ
J Rheumatol 2003 Apr;30(4):783-91. PMID: 12672200
Dahlbäck B, Hillarp A, Rosen S, Zöller B
Ann Hematol 1996 Apr;72(4):166-76. doi: 10.1007/s002770050157. PMID: 8624369
Hillarp A, Dahlbäck B, Zöller B
Blood Rev 1995 Dec;9(4):201-12. doi: 10.1016/s0268-960x(95)90011-x. PMID: 8839395
Dahlbäck B
Blood 1995 Feb 1;85(3):607-14. PMID: 7833465
Dahlbäck B
Ann Med 1995 Apr;27(2):187-92. doi: 10.3109/07853899509031957. PMID: 7632412

Clinical prediction guides

Rühl H, Schröder L, Müller J, Fimmers R, Sukhitashvili S, Welz J, Kuhn WC, Oldenburg J, Rudlowski C, Pötzsch B
Thromb Res 2014 May;133(5):886-91. Epub 2014 Feb 11 doi: 10.1016/j.thromres.2014.02.004. PMID: 24568775
Dahlbäck B
Semin Thromb Hemost 1999;25(3):273-89. doi: 10.1055/s-2007-994931. PMID: 10443959
Dahlbäck B, Hillarp A, Rosen S, Zöller B
Ann Hematol 1996 Apr;72(4):166-76. doi: 10.1007/s002770050157. PMID: 8624369
Hillarp A, Dahlbäck B, Zöller B
Blood Rev 1995 Dec;9(4):201-12. doi: 10.1016/s0268-960x(95)90011-x. PMID: 8839395
Dahlbäck B
Ann Med 1995 Apr;27(2):187-92. doi: 10.3109/07853899509031957. PMID: 7632412

Recent systematic reviews

Hemelaar M, van der Mooren MJ, Rad M, Kluft C, Kenemans P
Fertil Steril 2008 Sep;90(3):642-72. Epub 2007 Oct 17 doi: 10.1016/j.fertnstert.2007.07.1298. PMID: 17923128

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