- Afibrinogenemia congenital
- Congenital afibrinogenemia
Your QuestionI would like to know more about this medical condition. For instance, if I have this condition, can I pass it along to my children? What are the chances of this happening? Can this condition be cured? If not, can it at least be treated? What is the average lifespan of a person with afibrinogenemia? Do women with this condition have complications during pregnancy? Is it safe for them to bear children?
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Questions on this page
- What is afibrinogenemia?
- What symptoms may be associated with afibrinogenemia?
- What causes afibrinogenemia?
- Is afibrinogenemia an inherited condition?
- How might afibrinogenemia be treated?
- What is the average lifespan for individuals with afibrinogenemia?
- Do women with afibrinogenemia have a higher risk for complications during pregnancy?
Afibrinogenemia, sometimes called congenital afibrinogenemia, is an inherited blood disorder in which the blood does not clot normally. It occurs when there is a lack (deficiency) of a protein called fibrinogen (or factor I), which is needed for the blood to clot. Affected individuals may be susceptible to severe bleeding (hemorrhaging) episodes, particularly during infancy and childhood. Afibrinogenemia is thought to be transmitted as an autosomal recessive trait.
In afibrinogenemia, with fibrinogen levels less than 0.1 g/L, bleeding manifestations range from mild to severe. Umbilical cord hemorrhage frequently provides an early alert to the abnormality. Other bleeding manifestations include the following:
- The liquid portion of the blood (plasma)
- A blood product containing concentrated fibrinogen (cryoprecipitate) through a vein (transfusion)
Prophylactic therapy should also be considered for patients with recurrent bleeding episodes, CNS hemorrhage, or during pregnancy for women with recurrent miscarriage.
Individuals with afibrinogenemia should consider the following as part of their management plan:
- Consultation with a hematologist/hemostasis specialist, particularly for patients who require fibrinogen replacement therapy.
- Genetic counseling and family studies, especially for individuals with extensive family history or those considering pregnancy.
- Follow-up by a comprehensive bleeding disorder care team experienced in diagnosing and managing inherited bleeding disorders.
- Vaccination with the hepatitis B vaccine because transfusion increases the risk of hepatitis.
Recurrent spontaneous abortions can also occur in women with afibrinogenemia. This phenomenon, however, may be prevented by routine prophylaxis with fibrinogen concentrates starting early in pregnancy. In addition, women with afibrinogenemia may experience postpartum hemorrhage.
In cases where a woman with a bleeding disorder becomes pregnant, it is recommended that she see an obstetrician as soon as possible. This will help ensure that the doctor can consult with the appropriate specialists who can provide pre- and postnatal care for the woman and her baby.
To find a specialist in your area, click here or contact the National Hemophilia Foundation's Information Resource Center, HANDI, at 1-800-424-2634 or email@example.com.
- Dugdale DC, Chen YB. Congenital afibrinogenemia. MedlinePlus. 2009; http://www.nlm.nih.gov/medlineplus/ency/article/001313.htm. Accessed 7/17/2009.
- Afibrinogenemia, Congenital. National Organization for Rare Disorders (NORD). 2007; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Afibrinogenemia%2C%20Congenital. Accessed 7/17/2009.
- Israels, SJ. Inherited Abnormalities of Fibrinogen. eMedicine. 2009; http://emedicine.medscape.com/article/960677-overview. Accessed 7/17/2009.
- Afibrinogenemia, Congenital. Online Mendelian Inheritance in Man (OMIM). 2004; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=202400. Accessed 7/17/2009.
- Israels SJ. Inherited Abnormalities of Fibrinogen: Treatment & Management. eMedicine. 2009; http://emedicine.medscape.com/article/960677-treatment. Accessed 7/17/2009.
- Israels SJ. Inherited Abnormalities of Fibrinogenemia: Follow-up. eMedicine. 2009; http://emedicine.medscape.com/article/960677-followup. Accessed 7/17/2009.
- Bleeding Disorders and Women. National Hemophilia Foundation. 2006; http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=192&contentid=20&rptname=bleeding. Accessed 7/17/2009.