Inherited Abnormalities of Fibrinogen Clinical Presentation

  • Author: Vinod V Balasa, MD; Chief Editor: Max J Coppes, MD, PhD, MBA   more...
 
Updated: May 16, 2012
 

History

In afibrinogenemia, with fibrinogen levels less than 0.1 g/L, bleeding manifestations range from mild to severe.[6, 7] 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)[8]

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.[6, 7]

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

Patients with dysfibrinogenemia may experience hemorrhage (28%) or thrombosis (20%), but most are asymptomatic (60%).[9] 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.

Proceed to Differential Diagnoses
 
 
Contributor Information and Disclosures
Author

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.

Specialty Editor Board

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.

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; Assistant 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 Academy of Pediatrics, American Association for Cancer Research, American Federation for Clinical Research, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Council on Medical Student Education in Pediatrics, and Hemophilia and Thrombosis Research Society

Disclosure: Nothing to disclose.

Helen SI Chan, MBBS, FRCP(C), FAAP  Associate Senior Scientist, Research Institute; Professor, Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto Faculty of Medicine, Canada

Helen SI Chan, MBBS, FRCP(C), FAAP is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA  Senior Vice President, Center for Cancer and Blood Disorders, Children's National Medical Center; Professor of Medicine, Oncology, and Pediatrics, Georgetown University School of Medicine; Clinical Professor of Pediatrics, George Washington University School of Medicine and Health Sciences

Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American Association for Cancer Research, American Society of Pediatric Hematology/Oncology, and 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. Sep 2004;10(5):593-628. [Medline].

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

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

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

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

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

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

  8. 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. Nov 2000;6(6):705-8. [Medline].

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

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

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

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

 
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The conversion of soluble fibrinogen to insoluble fibrin.
 
 
 
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