- 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 coagulation 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. Treatment may include cryoprecipitate (a blood product containing concentrated fibrinogen and other clotting factors), fibrinogen (RiaSTAP) or plasma (the liquid portion of the blood which contains clotting factors).
In afibrinogenemia, with fibrinogen levels less than 0.1 g/L, bleeding abnormalities range from mild to severe. Bleeding from the umbilical cord just after birth frequently provides an early alert to the abnormality. Other symptoms include the following:
- Nosebleeds that are difficult to stop
- Bleeding in the mucus membranes
- Bleeding in the joints
- Bruising easily
- Gastrointestinal bleeding
- Menorrhagia and postpartum hemorrhage
- Heavy bleeding after injury or surgery
- Spontaneous rupture of the spleen
- Bleeding inside the skull (intracranial hemorrhage) - very rare
- 25% (1 in 4) chance to be affected,
- 50% (1 in 2) chance to be an unaffected carrier like each parent,
- 25% (1 in 4) chance to be unaffected and not be a carrier.
- The liquid portion of the blood (plasma)
- Fibrinogen (RaiSTAP)
- 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 firstname.lastname@example.org.
- Chen YB, Zieve D. Congenital afibrinogenemia. MedlinePlus. January 27, 2015; http://www.nlm.nih.gov/medlineplus/ency/article/001313.htm.
- Afibrinogenemia, Congenital. National Organization for Rare Disorders (NORD). 2007; http://rarediseases.org/rare-diseases/afibrinogenemia-congenital/.
- Acharya SS. Inherited Abnormalities of Fibrinogen. Medscape Reference. November 18, 2014; http://emedicine.medscape.com/article/960677-overview.
- Afibrinogenemia, Congenital. Online Mendelian Inheritance in Man (OMIM). September 22, 2014; http://omim.org/entry/202400.
- Congenital afibrinogenemia. Genetics Home Reference (GHR). September 2014; https://ghr.nlm.nih.gov/condition/congenital-afibrinogenemia.
- Women with Bleeding Disorders. National Hemophilia Foundation. https://www.hemophilia.org/Community-Resources/Women-with-Bleeding-Disorders/Women-also-Bleed. Accessed 5/31/2016.