Afibrinogenemia, also called congenital afibrinogenemia, is a rare autosomal recessive inherited blood disorder due to deficiency of the clotting protein fibrinogen. The disorder is associated with increased risk of spontaneous hemorrhage1.
Afibrinogenemia has an estimated prevalence of one in 1,000,000 2,3. It is characterized by the complete absence or reduced amounts of immunoreactive fibrinogen as measured by antigenic and functional assays (less than 0.1 g/L whereas the normal range is 2 to 4 g/L) 4.
Symptoms usually begin to show at birth with umbilical cord bleeding 5. The most common clinical symptoms are mucocutaneous, soft tissue, joint, intracranial and genitourinary bleeding. This bleeding may be spontaneous, traumatic or postsurgical 6. Excessive menstrual bleeding and spontaneous abortions in women have been seen 7,8,11. Rarely splenic rupture has been reported.
Imaging findings relate to the presence of hemorrhage 9,10:
- recurrent extradural and intracerebral hemorrhage
- joint bleeding (hemarthrosis)
- muscle hematoma
- interosseous hemorrhage
- intramedullary cyst with hemorrhage, especially in long bones
Treatment and diagnosis
Supportive treatments including transfusions, fibrinogen administration, repeated packing surgeries and selective embolization, may be successful 1.
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- 2. Mannucci PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders. (2004) Blood. 104 (5): 1243-52. doi:10.1182/blood-2004-02-0595 - Pubmed
- 3. Andrew D. Mumford, Sam Ackroyd, Raza Alikhan, Louise Bowles, Pratima Chowdary, John Grainger, Jason Mainwaring, Mary Mathias, Niamh O'Connell. Guideline for the diagnosis and management of the rare coagulation disorders. (2014) British Journal of Haematology. 167 (3): 304. doi:10.1111/bjh.13058 - Pubmed
- 4. Martinez J, Palascak J, Peters C. Functional and metabolic properties of human asialofibrinogen. (1977) The Journal of laboratory and clinical medicine. 89 (2): 367-77. Pubmed
- 5. S. Tabibian, M. Shams, M. Naderi, A. Dorgalaleh. Prenatal diagnosis in rare bleeding disorders—An unresolved issue?. (2018) International Journal of Laboratory Hematology. 40 (3): 241. doi:10.1111/ijlh.12789 - Pubmed
- 6.Arcagök BC, Özdemir N, Tekin A, Özcan R, Eliçevik M, Şenyüz OF, Çam H, Celkan T. Spontaneous splenic rupture in a patient with congenital afibrinogenemia. (2014) Turk pediatri arsivi. 49 (3): 247-9. doi:10.5152/tpa.2014.1070 - Pubmed
- 7. Peyvandi F, Mannucci PM. Rare coagulation disorders. (1999) Thrombosis and haemostasis. 82 (4): 1207-14. Pubmed
- 8. A. VISWABANDYA, S. BAIDYA, S. C. NAIR, A. ABRAHAM, B. GEORGE, V. MATHEWS, M. CHANDY, A. SRIVASTAVA. Correlating clinical manifestations with factor levels in rare bleeding disorders: a report from Southern India. (2012) Haemophilia. 18 (3): e195. doi:10.1111/j.1365-2516.2011.02730.x - Pubmed
- 9. S. M. SIBONI, E. ZANON, G. SOTTILOTTA, D. CONSONNI, G. CASTAMAN, D. MIKOVIC, F. BIONDO, A. TAGLIAFERRI, A. IORIO, P. M. MANNUCCI, F. PEYVANDI. Central nervous system bleeding in patients with rare bleeding disorders. (2012) Haemophilia. 18 (1): 34. doi:10.1111/j.1365-2516.2011.02545.x - Pubmed
- 10. Reidy, K., B. Brand, and B. Jost, Severe elbow arthropathy in a patient with congenital afibrinogenemia: a case report. (2010) The Journal of bone and joint surgery. American volume. 92 (2): 456-8. doi:10.2106/JBJS.I.00149 - Pubmed
- 11. M. Karimi, M. Bordbar, M. Aali, A. Bazrafshan, H. Tavoosi, J. Gerdabi. Successful delivery in an patient with afibrinogenemia after three abortions: A case report and review of the literature. (2018) Haemophilia. 24 (2): e63. doi:10.1111/hae.13415 - Pubmed