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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
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Inherited thrombophilia.
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
Heparin cofactor II deficiency.
Tollefsen DM
Arch Pathol Lab Med 2002 Nov;126(11):1394-400. doi: 10.5858/2002-126-1394-HCID. PMID: 12421148
Prothrombin G20210A gene mutation, heparin cofactor II defects, primary (essential) thrombocythemia, and thrombohemorrhagic manifestations.
Frenkel EP, Bick RL
Semin Thromb Hemost 1999;25(4):375-86. doi: 10.1055/s-2007-994941. PMID: 10548071
Syndromes of hypercoagulability and thrombosis: a review.
Bick RL, Pegram M
Semin Thromb Hemost 1994;20(1):109-32. doi: 10.1055/s-2007-1001895. PMID: 8059229
Heparin cofactor II deficiency in the elderly: comparison with antithrombin III.
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

Heparin cofactor II deficiency.
Tollefsen DM
Arch Pathol Lab Med 2002 Nov;126(11):1394-400. doi: 10.5858/2002-126-1394-HCID. PMID: 12421148
Prothrombin G20210A gene mutation, heparin cofactor II defects, primary (essential) thrombocythemia, and thrombohemorrhagic manifestations.
Frenkel EP, Bick RL
Semin Thromb Hemost 1999;25(4):375-86. doi: 10.1055/s-2007-994941. PMID: 10548071
Molecular genetics of familial venous thrombosis.
Cooper DN, Tuddenham EG
Br Med Bull 1994 Oct;50(4):833-50. doi: 10.1093/oxfordjournals.bmb.a072929. PMID: 7804734
Hypercoagulability and thrombosis.
Bick RL, Ucar K
Hematol Oncol Clin North Am 1992 Dec;6(6):1421-31. PMID: 1452521
Laboratory diagnosis of antithrombin and heparin cofactor II deficiency.
Tollefsen DM
Semin Thromb Hemost 1990 Apr;16(2):162-8. doi: 10.1055/s-2007-1002664. PMID: 2191430

Therapy

Heparin cofactor II as a novel vascular protective factor against atherosclerosis.
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
Effects of antithrombin and heparin cofactor II levels on anticoagulation with Intimatan.
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
Hereditary homozygous heparin cofactor II deficiency and the risk of developing venous thrombosis.
Villa P, Aznar J, Vaya A, España F, Ferrando F, Mira Y, Estellés A
Thromb Haemost 1999 Sep;82(3):1011-4. PMID: 10494755
Hereditary heparin cofactor II deficiency and coronary artery disease.
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
Heparin cofactor II levels are increased by the use of combined oral contraceptives.
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

Heparin cofactor II as a novel vascular protective factor against atherosclerosis.
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
Acute brachial artery thrombosis as the initial manifestation of human immunodeficiency virus infection.
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
Methodology and clinical significance of heparin cofactor II. Probable heparin cofactor II deficiency in a patient with cerebrovascular thrombosis.
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

Heparin cofactor II as a novel vascular protective factor against atherosclerosis.
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
Antithrombotic activity of dermatan sulfate in heparin cofactor II-deficient mice.
Vicente CP, He L, Pavão MS, Tollefsen DM
Blood 2004 Dec 15;104(13):3965-70. Epub 2004 Aug 17 doi: 10.1182/blood-2004-02-0598. PMID: 15315969
A heparin cofactor II mutation (HCII Rimini) combined with factor V Leiden or type I protein C deficiency in two unrelated thrombophilic subjects.
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
Two cases of inherited triple deficiency in a large kindred with thrombotic diathesis and deficiencies of antithrombin III, heparin cofactor II, protein C and protein S.
Jobin F, Vu L, Lessard M
Thromb Haemost 1991 Sep 2;66(3):295-9. PMID: 1836072
Hereditary heparin cofactor II deficiency and thrombosis: report of six patients belonging to two separate kindreds.
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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