Learn About Congenital Afibrinogenemia

What is the definition of Congenital Afibrinogenemia?

Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. However, bleeding is uncontrolled in people with congenital afibrinogenemia. Newborns with this condition often experience prolonged bleeding from the umbilical cord stump after birth. Nosebleeds (epistaxis) and bleeding from the gums or tongue are common and can occur after minor trauma or in the absence of injury (spontaneous bleeding). Some affected individuals experience bleeding into the spaces between joints (hemarthrosis) or the muscles (hematoma). Rarely, bleeding in the brain or other internal organs occurs, which can be fatal. Women with congenital afibrinogenemia can have abnormally heavy menstrual bleeding (menorrhagia). Without proper treatment, women with this disorder may have difficulty carrying a pregnancy to term, resulting in repeated miscarriages.

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What are the causes of Congenital Afibrinogenemia?

Congenital afibrinogenemia results from mutations in one of three genes, FGA, FGB, or FGG. Each of these genes provides instructions for making one part (subunit) of a protein called fibrinogen. This protein is important for blood clot formation (coagulation), which is needed to stop excessive bleeding after injury. In response to injury, fibrinogen is converted to fibrin, the main protein in blood clots. Fibrin proteins attach to each other, forming a stable network that makes up the blood clot.

How prevalent is Congenital Afibrinogenemia?

Congenital afibrinogenemia is a rare condition that occurs in approximately 1 in 1 million newborns.

Is Congenital Afibrinogenemia an inherited disorder?

Congenital afibrinogenemia is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene. The parents have about half the normal level of fibrinogen in their blood but typically do not show signs and symptoms of the condition.

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What are the latest Congenital Afibrinogenemia Clinical Trials?
The Efficacy and Safety of a New Cross-linked Hyaluronan Gel to Prevent Adhesion After Ultrasound-guided Manual Vacuum Aspiration (USG-MVA): A Prospective Randomized Controlled Trial

Summary: The objective of this prospective, randomized controlled study was to evaluate the effectiveness of this NCH gel in the prevention of IUA development as assessed by hysteroscopy after USG-MVA, in the treatment for first-trimester miscarriage. To study the severity and extent of the IUA as assessed by the AFS and ESGE adhesion score in both groups of patients. To examine the rate of complications o...

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Post-marketing Observational Study on the Safety and Efficacy of Fibryga in Congenital Fibrinogen Deficiency

Summary: Open-label, Uncontrolled, Multicenter Observational Study on the Safety and Efficacy of Fibryga in Congenital Fibrinogen Deficiency

Who are the sources who wrote this article ?

Published Date: September 01, 2014Published By: National Institutes of Health

What are the Latest Advances for Congenital Afibrinogenemia?
Efficacy and safety of fibrinogen concentrate for perioperative prophylaxis of bleeding in adult, adolescent, and pediatric patients with congenital fibrinogen deficiency: FORMA-02 and FORMA-04 clinical trials.
Medical Management of a Mural Thrombus Inducing Repeated Ischemic Strokes in a Patient with Congenital Afibrinogenemia.
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