Congenital Afibrinogenemia Overview
Learn About 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.
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.
Congenital afibrinogenemia is a rare condition that occurs in approximately 1 in 1 million newborns.
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.
Alessandro Casini practices in Geneve, Switzerland. Mr. Casini is rated as an Elite expert by MediFind in the treatment of Congenital Afibrinogenemia. His top areas of expertise are Familial Hypofibrinogenemia, Dysfibrinogenemia, Congenital Afibrinogenemia, Blood Clots, and Bone Marrow Transplant.
Flora Peyvandi practices in Milan, Italy. Ms. Peyvandi is rated as an Elite expert by MediFind in the treatment of Congenital Afibrinogenemia. Her top areas of expertise are Blood Clots, Hemophilia A, Von Willebrand Disease (VWD), Synovectomy, and Bone Marrow Transplant.
Marguerite Arbez-Neerman practices in Geneve, Switzerland. Ms. Arbez-Neerman is rated as an Elite expert by MediFind in the treatment of Congenital Afibrinogenemia. Her top areas of expertise are Familial Hypofibrinogenemia, Congenital Afibrinogenemia, Dysfibrinogenemia, and Blood Clots.
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 complicatio...
Summary: The goal of this observational validation study is to evaluate whether artificial intelligence (AI) models can accurately interpret ROTEM (Rotational Thromboelastometry) data and provide appropriate treatment recommendations in adult patients undergoing elective cardiac or liver transplantation surgery. The main questions it aims to answer are: Can AI models (e.g., ChatGPT and Gemini ) accurately ...
Published Date: September 01, 2014
Published By: National Institutes of Health