Congenital AfibrinogenemiaSymptoms, Doctors, Treatments, Advances & More
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 practicing medicine in Geneve, Switzerland. Mr. Casini is rated as an Elite expert by MediFind in the treatment of Congenital Afibrinogenemia. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Dysfibrinogenemia, Familial Hypofibrinogenemia, Congenital Afibrinogenemia, Blood Clots, and Bone Marrow Transplant.
Flora Peyvandi practices practicing medicine in Milan, Italy. Ms. Peyvandi is rated as an Elite expert by MediFind in the treatment of Congenital Afibrinogenemia. She is also highly rated in 37 other conditions, according to our data. Her clinical expertise encompasses Blood Clots, Hemophilia A, Von Willebrand Disease (VWD), Synovectomy, and Bone Marrow Transplant.
Claudia Khayat practices practicing medicine in Hotel Dieu, Lebanon. Ms. Khayat is rated as an Elite expert by MediFind in the treatment of Congenital Afibrinogenemia. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Congenital Afibrinogenemia, Familial Hypofibrinogenemia, Blood Clots, and Hemophilia A.
Summary: This study is a phase 3, prospective, single center, randomized, open label, controlled, parallel arm, interventional study to investigate the efficacy and safety of CSL511, in participants undergoing cytoreductive surgery (CRS) with hyperthermic intraperitoneal chemotherapy (HIPEC) for pseudomyxoma peritonei (PMP) with predicted intraoperative blood loss of greater than or equal to (\>=) 2 liter ...
Background: Why This Study Matters When someone suffers a severe injury (like from a car crash), they can bleed heavily. One complication doctors often face is something called Trauma-Induced Coagulopathy (TIC). This is a condition where the blood doesn't clot properly, making bleeding worse. The reasons behind TIC are complicated and not fully understood. One important substance involved is fibrinogen, a pro...
Published Date: September 01, 2014
Published By: National Institutes of Health