Coexisting dysfibrinogenemia (γR275C) and factor V leiden deficiency associated with thromboembolic disease (fibrinogen Cedar Rapids)

Kevin R. Siebenlist, M. W. Mosesson, D. A. Meh, J. P. DiOrio, R. M. Albrecht, John D Olson

Research output: Contribution to journalArticle

39 Citations (Scopus)

Abstract

Fibrinogen Cedar Rapids is a heterozygous dysfibrinogenemia (γR275C) that was associated with thromboembolism during and following pregnancy in three second-generation family members who also were heterozygotic for factor V Leiden (V R506Q). Like other dysfibrinogenemias with substitutions at position 275 of the γ-chain, fibrinogen Cedar Rapids is characterized by defective end-to-end intermolecular fibrinogen and fibrin 'D: D' associations, a fibrin network structure that is composed of thicker and more highly branched fibers, normal fibrin 'D : E' associations, and normal factor XIII-mediated crosslinking of fibrinogen and fibrin. In addition, Cedar Rapids fibrinogen and fibrin displayed delayed plasmin lysis rates. Compared with normal fibrinogen, platelet aggregation or platelet fibrinogen receptor clustering was defective in the presence of fibrinogen Cedar Rapids. Most subjects with γR275 mutations do not experience clinical thrombotic disorders, suggesting that the combination of a factor V Leiden defect and a γR275C dysfibrinogenemia predisposes to thromboembolic disease. (C) 2000 Lippincott Williams and Wilkins.

Original languageEnglish (US)
Pages (from-to)293-304
Number of pages12
JournalBlood Coagulation and Fibrinolysis
Volume11
Issue number3
StatePublished - 2000

Fingerprint

Factor V Deficiency
Fibrinogen
Fibrin
Fibrinogen Receptors
Factor XIII
Fibrinolysin
Thromboembolism
factor V Leiden
Platelet Aggregation
Cluster Analysis
Blood Platelets
Pregnancy
Mutation

Keywords

  • Dysfibrinogen
  • Factor V Leiden
  • Pregnancy
  • Thrombosis

ASJC Scopus subject areas

  • Hematology

Cite this

Siebenlist, K. R., Mosesson, M. W., Meh, D. A., DiOrio, J. P., Albrecht, R. M., & Olson, J. D. (2000). Coexisting dysfibrinogenemia (γR275C) and factor V leiden deficiency associated with thromboembolic disease (fibrinogen Cedar Rapids). Blood Coagulation and Fibrinolysis, 11(3), 293-304.

Coexisting dysfibrinogenemia (γR275C) and factor V leiden deficiency associated with thromboembolic disease (fibrinogen Cedar Rapids). / Siebenlist, Kevin R.; Mosesson, M. W.; Meh, D. A.; DiOrio, J. P.; Albrecht, R. M.; Olson, John D.

In: Blood Coagulation and Fibrinolysis, Vol. 11, No. 3, 2000, p. 293-304.

Research output: Contribution to journalArticle

Siebenlist, KR, Mosesson, MW, Meh, DA, DiOrio, JP, Albrecht, RM & Olson, JD 2000, 'Coexisting dysfibrinogenemia (γR275C) and factor V leiden deficiency associated with thromboembolic disease (fibrinogen Cedar Rapids)', Blood Coagulation and Fibrinolysis, vol. 11, no. 3, pp. 293-304.
Siebenlist, Kevin R. ; Mosesson, M. W. ; Meh, D. A. ; DiOrio, J. P. ; Albrecht, R. M. ; Olson, John D. / Coexisting dysfibrinogenemia (γR275C) and factor V leiden deficiency associated with thromboembolic disease (fibrinogen Cedar Rapids). In: Blood Coagulation and Fibrinolysis. 2000 ; Vol. 11, No. 3. pp. 293-304.
@article{99194ebb74734a65a5e83daa9de09a83,
title = "Coexisting dysfibrinogenemia (γR275C) and factor V leiden deficiency associated with thromboembolic disease (fibrinogen Cedar Rapids)",
abstract = "Fibrinogen Cedar Rapids is a heterozygous dysfibrinogenemia (γR275C) that was associated with thromboembolism during and following pregnancy in three second-generation family members who also were heterozygotic for factor V Leiden (V R506Q). Like other dysfibrinogenemias with substitutions at position 275 of the γ-chain, fibrinogen Cedar Rapids is characterized by defective end-to-end intermolecular fibrinogen and fibrin 'D: D' associations, a fibrin network structure that is composed of thicker and more highly branched fibers, normal fibrin 'D : E' associations, and normal factor XIII-mediated crosslinking of fibrinogen and fibrin. In addition, Cedar Rapids fibrinogen and fibrin displayed delayed plasmin lysis rates. Compared with normal fibrinogen, platelet aggregation or platelet fibrinogen receptor clustering was defective in the presence of fibrinogen Cedar Rapids. Most subjects with γR275 mutations do not experience clinical thrombotic disorders, suggesting that the combination of a factor V Leiden defect and a γR275C dysfibrinogenemia predisposes to thromboembolic disease. (C) 2000 Lippincott Williams and Wilkins.",
keywords = "Dysfibrinogen, Factor V Leiden, Pregnancy, Thrombosis",
author = "Siebenlist, {Kevin R.} and Mosesson, {M. W.} and Meh, {D. A.} and DiOrio, {J. P.} and Albrecht, {R. M.} and Olson, {John D}",
year = "2000",
language = "English (US)",
volume = "11",
pages = "293--304",
journal = "Blood Coagulation and Fibrinolysis",
issn = "0957-5235",
publisher = "Lippincott Williams and Wilkins",
number = "3",

}

TY - JOUR

T1 - Coexisting dysfibrinogenemia (γR275C) and factor V leiden deficiency associated with thromboembolic disease (fibrinogen Cedar Rapids)

AU - Siebenlist, Kevin R.

AU - Mosesson, M. W.

AU - Meh, D. A.

AU - DiOrio, J. P.

AU - Albrecht, R. M.

AU - Olson, John D

PY - 2000

Y1 - 2000

N2 - Fibrinogen Cedar Rapids is a heterozygous dysfibrinogenemia (γR275C) that was associated with thromboembolism during and following pregnancy in three second-generation family members who also were heterozygotic for factor V Leiden (V R506Q). Like other dysfibrinogenemias with substitutions at position 275 of the γ-chain, fibrinogen Cedar Rapids is characterized by defective end-to-end intermolecular fibrinogen and fibrin 'D: D' associations, a fibrin network structure that is composed of thicker and more highly branched fibers, normal fibrin 'D : E' associations, and normal factor XIII-mediated crosslinking of fibrinogen and fibrin. In addition, Cedar Rapids fibrinogen and fibrin displayed delayed plasmin lysis rates. Compared with normal fibrinogen, platelet aggregation or platelet fibrinogen receptor clustering was defective in the presence of fibrinogen Cedar Rapids. Most subjects with γR275 mutations do not experience clinical thrombotic disorders, suggesting that the combination of a factor V Leiden defect and a γR275C dysfibrinogenemia predisposes to thromboembolic disease. (C) 2000 Lippincott Williams and Wilkins.

AB - Fibrinogen Cedar Rapids is a heterozygous dysfibrinogenemia (γR275C) that was associated with thromboembolism during and following pregnancy in three second-generation family members who also were heterozygotic for factor V Leiden (V R506Q). Like other dysfibrinogenemias with substitutions at position 275 of the γ-chain, fibrinogen Cedar Rapids is characterized by defective end-to-end intermolecular fibrinogen and fibrin 'D: D' associations, a fibrin network structure that is composed of thicker and more highly branched fibers, normal fibrin 'D : E' associations, and normal factor XIII-mediated crosslinking of fibrinogen and fibrin. In addition, Cedar Rapids fibrinogen and fibrin displayed delayed plasmin lysis rates. Compared with normal fibrinogen, platelet aggregation or platelet fibrinogen receptor clustering was defective in the presence of fibrinogen Cedar Rapids. Most subjects with γR275 mutations do not experience clinical thrombotic disorders, suggesting that the combination of a factor V Leiden defect and a γR275C dysfibrinogenemia predisposes to thromboembolic disease. (C) 2000 Lippincott Williams and Wilkins.

KW - Dysfibrinogen

KW - Factor V Leiden

KW - Pregnancy

KW - Thrombosis

UR - http://www.scopus.com/inward/record.url?scp=0033623697&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033623697&partnerID=8YFLogxK

M3 - Article

C2 - 10870810

AN - SCOPUS:0033623697

VL - 11

SP - 293

EP - 304

JO - Blood Coagulation and Fibrinolysis

JF - Blood Coagulation and Fibrinolysis

SN - 0957-5235

IS - 3

ER -