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Inherited Abnormalities of Fibrinogen Clinical Presentation

  • Author: Suchitra S Acharya, MBBS, MD; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
 
Updated: Nov 18, 2014
 

History

In afibrinogenemia, with fibrinogen levels less than 0.1 g/L, bleeding manifestations range from mild to severe.[9, 10] Umbilical cord hemorrhage frequently provides an early alert to the abnormality. Factor XIII deficiency is the other congenital bleeding diathesis typically associated with umbilical cord bleeding. Other bleeding manifestations include the following:

  • Epistaxis and oral mucosal bleeding
  • Hemarthrosis and muscle hematoma
  • GI bleeding
  • Menorrhagia and postpartum hemorrhage
  • Traumatic and surgical bleeding
  • Spontaneous splenic rupture and intracranial hemorrhage (rare) [11]

In patients with hypofibrinogenemia, bleeding episodes are usually mild, and, in many cases, no spontaneous clinical bleeding is present; bleeding may occur following trauma or surgery.[9, 10]

Afibrinogenemia and hypofibrinogenemia can be associated with thrombosis. Afibrinogenemia and hypofibrinogenemia can be associated with recurrent spontaneous abortion.

Patients with dysfibrinogenemia may experience hemorrhage (25%) or thrombosis (20%), but most are asymptomatic (50%).[12] Dysfibrinogenemia has also been associated with poor wound healing, wound dehiscence, and spontaneous abortion. Skin necrosis and, less commonly, arterial thromboses have also been described.

 
 
Contributor Information and Disclosures
Author

Suchitra S Acharya, MBBS, MD Program Head, Bleeding Disorders and Thrombosis Program, Cohen Children's Medical Center of New York; Associate Professor of Pediatrics and Pediatrics in Medicine, Hofstra North Shore-LIJ School of Medicine at Hofstra University

Suchitra S Acharya, MBBS, MD is a member of the following medical societies: American Society of Hematology, International Society on Thrombosis and Haemostasis, Hemophilia and Thrombosis Research Society, World Federation of Hemophilia

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

James L Harper, MD Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Associate Clinical Professor, Department of Pediatrics, Creighton University School of Medicine; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center

James L Harper, MD is a member of the following medical societies: American Society of Pediatric Hematology/Oncology, American Federation for Clinical Research, Council on Medical Student Education in Pediatrics, Hemophilia and Thrombosis Research Society, American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology

Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA Executive Vice President, Chief Medical and Academic Officer, Renown Heath

Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American College of Healthcare Executives, American Society of Pediatric Hematology/Oncology, Society for Pediatric Research

Disclosure: Nothing to disclose.

Acknowledgements

Vinod V Balasa, MD Associate Professor of Pediatrics, Director of Hemophilia and Thrombosis Clinic, Division of Pediatric Hematology and Oncology, Department of Pediatrics, University of Louisville School of Medicine

Vinod V Balasa, MD is a member of the following medical societies: American Society of Hematology, American Society of Pediatric Hematology/Oncology, Children's Oncology Group, Hemophilia and Thrombosis Research Society, Indian Medical Association, and International Society on Thrombosis and Haemostasis

Disclosure: Nothing to disclose.

Gary R Jones, MD Associate Medical Director, Clinical Development, Berlex Laboratories

Gary R Jones, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Pediatric Hematology/Oncology, and Western Society for Pediatric Research

Disclosure: Nothing to disclose.

References
  1. Bolton-Maggs PH, Perry DJ, Chalmers EA, et al. The rare coagulation disorders--review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation. Haemophilia. 2004 Sep. 10(5):593-628. [Medline].

  2. Roberts HR, Stinchcombe TE, Gabriel DA. The dysfibrinogenaemias. Br J Haematol. 2001 Aug. 114(2):249-57. [Medline].

  3. Asselta R, Duga S, Tenchini ML. The molecular basis of quantitative fibrinogen disorders. J Thromb Haemost. 2006 Oct. 4(10):2115-29. [Medline].

  4. Kirihara T, Fujikawa Y, Takeda W, Kurihara T, Sato K, Ueki T, et al. Congenital dysfibrinogenemia coincidentally diagnosed at the onset of chronic myelogenous leukemia. Rinsho Ketsueki. 2014 May. 55(5):541-5. [Medline].

  5. Sumitha E, Jayandharan GR, Arora N, Abraham A, David S, Devi GS, et al. Molecular basis of quantitative fibrinogen disorders in 27 patients from India. Haemophilia. 2013 Jul. 19(4):611-8. [Medline].

  6. Acharya SS, Coughlin A, Dimichele DM,. Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost. 2004 Feb. 2(2):248-56. [Medline].

  7. Haverkate F, Samama M. Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. Thromb Haemost. 1995 Jan. 73(1):151-61. [Medline].

  8. Kaur M, Kumar N, Bose SK, Rajendran A, Trehan A, Ahluwalia J. Congenital afibrinogenemia in a new born: a rare cause for bleeding. Blood Coagul Fibrinolysis. 2014 Feb 6. [Medline].

  9. Peyvandi F, Haertel S, Knaub S, Mannucci PM. Incidence of bleeding symptoms in 100 patients with inherited afibrinogenemia or hypofibrinogenemia. J Thromb Haemost. 2006 Jul. 4(7):1634-7. [Medline].

  10. Acharya SS, Dimichele DM. Rare inherited disorders of fibrinogen. Haemophilia. 2008 Nov. 14(6):1151-8. [Medline].

  11. Parameswaran R, Dickinson JP, de Lord S, et al. Spontaneous intracranial bleeding in two patients with congenital afibrinogenaemia and the role of replacement therapy. Haemophilia. 2000 Nov. 6(6):705-8. [Medline].

  12. Martinez J. Congenital dysfibrinogenemia. Curr Opin Hematol. 1997 Sep. 4(5):357-65. [Medline].

  13. Verhovsek M, Moffat KA, Hayward CP. Laboratory testing for fibrinogen abnormalities. Am J Hematol. 2008 Dec. 83(12):928-31. [Medline].

  14. Van Cott EM, Smith EY, Galanakis DK. Elevated fibrinogen in an acute phase reaction prolongs the reptilase time but typically not the thrombin time. Am J Clin Pathol. 2002 Aug. 118(2):263-8. [Medline].

  15. Cunningham MT, Brandt JT, Laposata M, Olson JD. Laboratory diagnosis of dysfibrinogenemia. Arch Pathol Lab Med. 2002. 126:499-505. [Medline].

  16. Peyvandi F, Cattaneo M, Inbal A, De Moerloose P, Spreafico M. Rare bleeding disorders. Haemophilia. 2008 Jul. 14 Suppl 3:202-10. [Medline].

  17. Manco-Johnson MJ, Dimichele D, Castaman G, Fremann S, Knaub S, Kalina U. Pharmacokinetics and safety of fibrinogen concentrate. J Thromb Haemost. 2009 Dec. 7(12):2064-9. [Medline].

 
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The conversion of soluble fibrinogen to insoluble fibrin.
 
 
 
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