$Unique_ID{BRK03730} $Pretitle{} $Title{Factor XIII Deficiency} $Subject{Factor XIII Deficiency Fibrin Stabilizing Factor Deficiency Laki-Lorand Factor Deficiency Fibrinase Deficiency Fibrinoligase Deficiency Plasma Transglutaminase Deficiency Congenital Factor XIII Deficiency Acquired Factor XIII Deficiency Von Willebrand Disease Factor IX Deficiency Hemophilia Schoenlein-Henoch Purpura} $Volume{} $Log{} Copyright (C) 1989, 1991, 1993 National Organization for Rare Disorders, Inc. 66: Factor XIII Deficiency ** IMPORTANT ** It is possible that the main title of the article (Factor XIII Deficiency) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Fibrin Stabilizing Factor Deficiency Laki-Lorand Factor Deficiency Fibrinase Deficiency Fibrinoligase Deficiency Plasma Transglutaminase Deficiency Disorder Subdivisions: Congenital Factor XIII Deficiency Acquired Factor XIII Deficiency Information on the following diseases can be found in the Related Disorders section of this report: Von Willebrand Disease Factor IX Deficiency Hemophilia Schoenlein-Henoch Purpura 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. Factor XIII Deficiency is an extremely rare inherited disorder characterized by abnormal blood clotting that can result in internal bleeding. There are two forms of the disease: Acquired Factor XIII Deficiency and Congenital Factor XIII Deficiency. Symptoms Factor XIII Deficiency causes internal bleeding. The blood may seep into surrounding soft tissues several days after trauma, even mild trauma such as a bump or bruise. Pain and swelling may occur at the injury site prior to bleeding. If the bleeding continues, large cysts may form in the surrounding tissue that may destroy bone and cause peripheral nerve damage, usually in the thigh and buttocks areas. At birth, an infant with Factor XIII Deficiency may bleed from the umbilical cord. This rarely occurs in other blood clotting disorders. The most serious hemorrhaging that can occur in Factor XIII Deficiency is in the central nervous system following mild head trauma. In some cases hemorrhaging may stop spontaneously without treatment. Women with Factor XIII Deficiency who become pregnant usually have miscarriages if they do not receive treatment. Men with this disorder may be sterile or have extremely low sperm counts. Replacing Factor XIII in these men does not correct sterility. Some of the less frequently seen symptoms of this disorder are poor wound healing, excessive bleeding from wounds, blood blisters attached to the abdominal wall (retroperitoneal hematomas), and/or blood in the urine (hematuria). Some symptoms are seldom or never seen in people with Factor XIII Deficiency and this may help distinguish it from other bleeding disorders. These may include excessive blood loss during menstruation, hemorrhages within the eye, gastrointestinal bleeding, arthritis caused by an accumulation of blood in the joints, postoperative hemorrhage, bleeding from mucous membranes, and/or tiny red spots on the skin (petechiae). Factor XIII Deficiency is not generally a threat to patients who need surgery. The small amount of Factor XIII present in blood transfusions generally prevents postoperative hemorrhaging. Excessive bleeding from wounds, abrasions, or even spontaneous abortions is not common unless a person with this disorder uses aspirin or similar medications. Causes Factor XIII Deficiency is a rare disorder that may be acquired in conjunction with other disorders such as Sickle Cell Disease and Schoenlein-Henoch Purpura. It may sometimes occur as a result of cirrhosis or cancer of the liver. In these cases, the levels of Factor XIII may return to normal when the underlying liver disease is treated. People who have been treated with the drug isoiazid or have chronic kidney failure may develop anticoagulation antibodies that impair the clotting function of Factor XIII. (For more information on these disorders, choose "Sickle Cell" and "Schoenlein-Henoch Purpura" as your search term in the Rare Disease Database.) In congenital Factor XIII Deficiency the disorder is inherited as an autosomal dominant genetic 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 dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In the past Factor XIII Deficiency was believed to be inherited as an autosomal recessive genetic trait, which means both parents have to carry the gene in order for a child to inherit two genes that cause the disease. It is possible that there is both a dominant and recessive form of this disease. In the recessive form people who inherit only one gene for autosomal recessive Factor XIII Deficiency have reduced levels of Factor XIII in their blood but usually have no symptoms. Affected Population Factor XIII Deficiency is a rare disorder that affects males and females in equal numbers. The disorder has been identified in pregnant women who are about to deliver, in newborns, and in people who have undergone major surgery. Factor XIII Deficiency may also occur in people with Sickle Cell Disease and in many children with Schoenlein-Henoch Purpura. Related Disorders Symptoms of the following disorders can be similar to those of Factor XIII Deficiency. Comparisons may be useful for a differential diagnosis: Von Willebrand Disease is a rare inherited blood disorder of infancy or childhood characterized by prolonged bleeding and abnormally slow blood clotting time. Symptoms develop due to a deficiency of factor VII and von Willebrand factor, along with a structural defect of platelets in the blood. Symptoms may include heavy nose bleeds and excessive bleeding after injury, menstruation, childbirth, surgery, and/or some dental procedures. (For more information on this disorder, choose "von Willebrand Disease" as your search term in the Rare Disease Database.) Factor IX Deficiency is a rare inherited blood disorder characterized by severe and prolonged profuse bleeding (hemorrhaging) and in extreme cases, joint pain and bone deformities. Symptoms develop due to a deficiency of Factor IX. This blood factor is a component of thromboplastin which enables the blood to clot. In mild cases of Factor IX Deficiency, patients hemorrhage only after surgery or tooth extractions. In more severe cases, hemorrhage can occur in any part of the body, including the central nervous system and the digestive tract. In extreme cases, internal hemorrhaging occurs in the muscles, joints, and/or bones, resulting in deformity. (For more information on this disorder, choose "Factor IX Deficiency" as your search term in the Rare Disease Database.) Hemophilia is a rare inherited blood clotting disorder caused by inactive or deficient blood proteins (usually Factor VIII). This disorder is found in males almost exclusively and may be mild, moderate, or severe. The most serious symptom of Hemophilia is uncontrolled internal bleeding that can begin spontaneously without any apparent cause. Internal bleeding may cause permanent damage to joints and muscles. Bruises and trauma can trigger episodes of serious internal bleeding. (For more information on this disorder, choose "Hemophilia" as your search term in the Rare Disease Database.) Schoenlein-Henoch Purpura is a rare inherited disorder of the capillaries characterized by reddish skin lesions and internal hemorrhaging. This disorder can affect the joints, gastrointestinal tract, kidneys, and in some rare cases, the central nervous system. Initial symptoms include red skin, swelling, and hives. Patients may also experience fever and a general feeling of weakness (malaise). Severe localized pain may occur if blood and plasma accumulate in the joints or abdomen. (For more information on this disorder, choose "Purpura, Schoenlein-Henoch" as your search term in the Rare Disease Database.) Therapies: Standard The amount of Factor XIII necessary for a normal response to trauma is only about 10 percent of that in the normal plasma. People with Factor XIII Deficiency are generally given small infusions of fresh or frozen blood plasma (cryoprecipitates), or Factor XIII concentrates every three or four weeks. This has proven to be a highly successful preventive treatment for the disorder. Patients typically have a normal response to trauma while on these transfusions. When patients with Factor XIII Deficiency have a high incidence of bleeding inside the head (intracranial), preventive treatment is necessary. Pregnant women can be given exogenous Factor XIII to help prevent spontaneous abortion. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Isolated Factor XIII preparations are under development as a potential treatment for Factor XIII Deficiency. The orphan drug fibrogammin is being tested as a possible treatment for this disorder (including Congenital Factor XIII Deficiency). For more information on this treatment, contact: Hoechst Roussel Pharmaceuticals, Inc., Route 202, 206 North, Somerville, NJ, 08876. Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project that 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. The orphan product Factor XIII, Recombinant, is being investigated for the treatment of Congenital Factor XIII Deficiency. The product is sponsored by: Zymogenetics, Inc. 4225 Roosevelt Way Seattle, WA 98105 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 Factor XIII Deficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Hemophilia Foundation The Soho Building 110 Greene St., #406 New York, NY 10012 (212) 219-8180 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 World Federation of Hemophilia 1155 Dorchester Blvd. West, Suite 1517 Montreal, Quebec, H3B 2L3 Canada (514) 866-0422 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 800-336-GENE 301-652-5553 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little Brown and Co., 1987. Pp. 1017. MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 379-381. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1010-1011. HEMATOLOGY, 4th Ed,: William J. Williams, et al,; Editors; McGraw-Hill, Inc., 1990. Pp. 1491-1492. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 680-81. NEONATAL FACTOR XIII DEFICIENCY: J. Landman et al.; Clin Pediatr (1985 Jun; 24(6)). Pp. 352-353. INHERITED FACTOR XIII DEFICIENCY: D. Waks et al.; Fondu P; Acta Clin Belg (1989;44(1)). Pp. 52-57.