$Unique_ID{BRK04349} $Pretitle{} $Title{Afibrinogenemia, Congenital} $Subject{Afibrinogenemia Congenital Congenital Afibrinogenemia Factor IX Deficiency Factor XIII Deficiency Hageman Factor Deficiency Hemophilia Von Willebrand Disease } $Volume{} $Log{} Copyright (C) 1993 National Organization for Rare Disorders, Inc. 940: Afibrinogenemia, Congenital ** IMPORTANT ** It is possible that the main title of the article (Congenital Afibrinogenemia) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Congenital Afibrinogenemia Information on the following diseases can be found in the Related Disorders section of this report: Factor IX Deficiency Factor XIII Deficiency Hageman Factor Deficiency Hemophilia Von Willebrand Disease General Discussion **REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Congenital Afibrinogenemia is a rare disorder in which the patient is born with little or no fibrinogen. Fibrinogen is a protein necessary in the blood clotting process. As a result, the blood does not coagulate causing the patient to bleed uncontrollably. Many patients may experience severe hemorrhaging during childhood while others may have very little trouble with bleeding. Congenital Afibrinogenemia is thought to be inherited as an autosomal recessive genetic trait. Symptoms Congenital Afibrinogenemia is a very rare blood disorder in which the patient is born with little or no fibrinogen in the circulating blood. Fibrinogen is a protein that is needed to form blood clots. When this protein is absent, the blood does not coagulate which can cause the patient to hemorrhage. Two thirds of the patients with Congenital Afibrinogenemia have bleeding problems from infancy on. The severity and frequency of bleeding from surgery or trauma can vary from mild to severe. Infants may have severe hemorrhaging during the first few days of life. Typically the hemorrhaging can be noticed from the umbilical cord, in the stools, when vomiting, after circumcision, from the use of forceps during delivery and/or in collections of blood that become trapped in the skin tissue (hematomas). Other symptoms of Congenital Afibrinogenemia may be severe bleeding after minor trauma, the loss of baby teeth, or during the extraction of teeth. Patients may also bruise easily and hemorrhage from the gums. Some patients with Congenital Afibrinogenemia also experience hemorrhaging into a joint (hemarthrosis); nosebleeds; gastrointestinal bleeding; heavy bleeding during menstruation; bleeding in the chest cavity and/or a ruptured spleen. Causes Congenital Afibrinogenemia is thought to be inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Congenital Afibrinogenemia is a rare disorder that affects males and females in equal numbers. Approximately one hundred and thirty cases have been recorded in the medical literature. Related Disorders Symptoms of the following blood clotting disorders can be similar to those of Congenital Afibrinogenemia. Comparisons may be useful for a differential diagnosis: Factor IX Deficiency is a severe genetic bleeding disorder that resembles classic Hemophilia A. Factor IX is a component of the blood clotting substance thromboplastin. It is deficient at birth in patients with this disorder. Factor IX Deficiency varies in severity between families and occurs most often among males. In rare instances, female carriers have been known to exhibit this deficiency in a mild form. Symptoms include prolonged bleeding episodes, and in very severe cases, joint pain and bone deformities. (For more information on this disorder, choose "Factor IX Deficiency" as your search term in the Rare Disease Database). Factor XIII Deficiency is a very rare inherited disorder that prevents the blood from clotting normally. The lack of clotting factor XIII can cause slow, oozing internal bleeding which may begin several days after even a mild trauma, such as a bump or bruise. The bleeding may persist so that large cysts form in the tissue spaces, destroying the surrounding bone and causing peripheral nerve damage. This typically occurs in the thigh and buttocks area. (For more information on this disorder, choose "Factor XIII Deficiency" as your search term in the Rare Disease Database). Hageman Factor Deficiency is a rare genetic blood disorder. It is caused by a lack in activity of the Hageman factor in blood plasma, a single-chain glycoprotein which is also called Factor XII. This factor is needed for blood clotting. However, when it is deficient, other blood clotting factors tend to compensate for Factor XII. This disorder usually presents no symptoms and is only accidentally discovered through pre-operative blood tests that are required by hospitals. (For more information on this disorder, choose "Hageman Factor Deficiency" as your search term in the Rare Disease Database). Hemophilia is a hereditary blood clotting disorder which affects males almost exclusively. Hemophilia is caused by the inactivity of one of the blood proteins necessary (usually Factor VIII) for clotting and can be classified by its level of severity; mild, moderate, and severe. Severity is determined by the percentage of active clotting factor in the blood. (For more information on this disorder, choose "Hemophilia" as your search term in the Rare Disease Database). Von Willebrand Disease is a hereditary blood clotting disorder characterized by prolonged bleeding. Blood clotting is slow due to a deficiency of the Von Willebrand factor protein and factor VIII protein (the factor VIII complex). Also, platelets do not stick normally causing excessively slow clotting time. Increased risk of excessive bleeding following surgery, dental procedures or injury occurs in patients with this disorder. With proper treatment and appropriate precautions, few patients become seriously handicapped by Von Willebrand Disease. The tendency to prolonged bleeding usually decreases with age. (For more information on this disorder choose "Von Willebrand" as your search term in the Rare Disease Database) Therapies: Standard Patients with Congenital Afibrinogenemia may be treated with infusions of cryoprecipitate concentrates. This is prescribed to raise the fibrogen level in the blood permitting clots to form. Fibrogen concentrates may be given but there is a risk of contracting an infectious disorder. Cryoprecipitate is the preferred treatment. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Congenital Afibrinogenemia: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Hemophilia Foundation 110 Greene St., Suite 303 New York, NY 10012 (212) 563-0211 NIH/National Heart Lung & Blood Institute (NHLBI) 9000 Rockville Pike Bethesda MD 20892 (301) 496-4236 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10505 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1199-1200. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. P. 1073. HEMATOLOGY, 4TH Ed,: William J. Williams, et al,: Editors; McGraw-Hill, Inc. Pp. 1474-5. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 62-3. PROPHYLACTIC CRYOPRECIPITATE IN CONGENITAL AFIBRINOGENEMIA: R.C. Rodriguez, et al.; Clin Pediatr (November, 1988, issue 27(11)). Pp. 543-5.