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Heparin cofactor II deficiency(THPH10)

MedGen UID:
96017
Concept ID:
C0398626
Disease or Syndrome
Synonyms: HCF II DEFICIENCY; HCF2 DEFICIENCY; Heparin cofactor 2 deficiency; THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY
SNOMED CT: Heparin cofactor II deficiency (234468009)
 
Gene (location): SERPIND1 (22q11.21)
 
Monarch Initiative: MONDO:0012876
OMIM®: 612356

Definition

Heparin cofactor II (HCF2; 142360) rapidly inhibits thrombin in plasma in the presence of dermatan sulfate or heparin. Congenital HCF2 deficiency is associated with thromboembolism and is classified into type I (quantitative) or type II (qualitative) deficiency (Kondo et al., 1996). [from OMIM]

Clinical features

From HPO
Post-angioplasty coronary artery restenosis
MedGen UID:
382869
Concept ID:
C2676505
Finding
Disseminated intravascular coagulation
MedGen UID:
41620
Concept ID:
C0012739
Disease or Syndrome
Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels.
Recurrent deep vein thrombosis
MedGen UID:
319764
Concept ID:
C1735901
Pathologic Function
Repeated episodes of the formation of a blot clot in a deep vein.

Recent clinical studies

Etiology

Franchini M, Veneri D, Salvagno GL, Manzato F, Lippi G
Crit Rev Clin Lab Sci 2006;43(3):249-90. doi: 10.1080/10408360600552678. PMID: 16574555
Tollefsen DM
Arch Pathol Lab Med 2002 Nov;126(11):1394-400. doi: 10.5858/2002-126-1394-HCID. PMID: 12421148
Frenkel EP, Bick RL
Semin Thromb Hemost 1999;25(4):375-86. doi: 10.1055/s-2007-994941. PMID: 10548071
Bick RL, Pegram M
Semin Thromb Hemost 1994;20(1):109-32. doi: 10.1055/s-2007-1001895. PMID: 8059229
Kario K, Matsuo T, Kobayashi H
Thromb Res 1992 Jun 1;66(5):489-98. doi: 10.1016/0049-3848(92)90303-r. PMID: 1381849

Diagnosis

Tollefsen DM
Arch Pathol Lab Med 2002 Nov;126(11):1394-400. doi: 10.5858/2002-126-1394-HCID. PMID: 12421148
Frenkel EP, Bick RL
Semin Thromb Hemost 1999;25(4):375-86. doi: 10.1055/s-2007-994941. PMID: 10548071
Cooper DN, Tuddenham EG
Br Med Bull 1994 Oct;50(4):833-50. doi: 10.1093/oxfordjournals.bmb.a072929. PMID: 7804734
Tollefsen DM
Semin Thromb Hemost 1990 Apr;16(2):162-8. doi: 10.1055/s-2007-1002664. PMID: 2191430
Mackie IJ, Segal H, Burren T, Gallimore M, Walshe KJ, Robinson G, Machin SJ
Blood Coagul Fibrinolysis 1990 Dec;1(6):647-51. PMID: 2133244

Therapy

Aihara K, Azuma H, Akaike M, Sata M, Matsumoto T
J Atheroscler Thromb 2009 Oct;16(5):523-31. Epub 2009 Sep 3 doi: 10.5551/jat.1552. PMID: 19729870
Tanaka KA, Szlam F, Vinten-Johansen J, Cardin AD, Levy JH
Thromb Haemost 2005 Oct;94(4):808-13. doi: 10.1160/TH05-03-0197. PMID: 16270635
Villa P, Aznar J, Vaya A, España F, Ferrando F, Mira Y, Estellés A
Thromb Haemost 1999 Sep;82(3):1011-4. PMID: 10494755
Matsuo T, Kario K, Sakamoto S, Yamada T, Miki T, Hirase T, Kobayashi H
Thromb Res 1992 Mar 1;65(4-5):495-505. doi: 10.1016/0049-3848(92)90201-k. PMID: 1615493
Mackie IJ, Segal H, Burren T, Gallimore M, Walshe KJ, Robinson G, Machin SJ
Blood Coagul Fibrinolysis 1990 Dec;1(6):647-51. PMID: 2133244

Prognosis

Aihara K, Azuma H, Akaike M, Sata M, Matsumoto T
J Atheroscler Thromb 2009 Oct;16(5):523-31. Epub 2009 Sep 3 doi: 10.5551/jat.1552. PMID: 19729870
Witz M, Lehmann J, Korzets Z
Am J Hematol 2000 Jun;64(2):137-9. doi: 10.1002/(sici)1096-8652(200006)64:2<137::aid-ajh13>3.0.co;2-s. PMID: 10814996
Tran TH, Zbinden B, Lämmle B, Duckert F
Semin Thromb Hemost 1985 Oct;11(4):342-6. doi: 10.1055/s-2007-1004391. PMID: 3840916

Clinical prediction guides

Aihara K, Azuma H, Akaike M, Sata M, Matsumoto T
J Atheroscler Thromb 2009 Oct;16(5):523-31. Epub 2009 Sep 3 doi: 10.5551/jat.1552. PMID: 19729870
Kanagawa Y, Shigekiyo T, Aihara K, Akaike M, Azuma H, Matsumoto T
Thromb Haemost 2001 Jan;85(1):101-7. PMID: 11204559
Bernardi F, Legnani C, Micheletti F, Lunghi B, Ferraresi P, Palareti G, Biagi R, Marchetti G
Thromb Haemost 1996 Oct;76(4):505-9. PMID: 8902986
Jobin F, Vu L, Lessard M
Thromb Haemost 1991 Sep 2;66(3):295-9. PMID: 1836072
Simioni P, Lazzaro AR, Coser E, Salmistraro G, Girolami A
Blood Coagul Fibrinolysis 1990 Oct;1(4-5):351-6. PMID: 2133211

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