Sunday, 19 December 2004
Last Updated Sunday, 19 December 2004
What
Factor XIII deficiency is a very rare, inherited bleeding disorder similar to hemophilia. It was first described in 1960. The deficiency of the Factor XIII protein sets this disorder apart from Hemophilia A (Factor VIII deficiency), B (Factor IX deficiency), and C (Factor XI deficiency).
Who
Factor XIII deficiency occurs in about 1 in 3 million children. Girls and boys of all races and ethnicities are affected equally. There are about 25 cases identified in the United Kingdom.
Signs and Symptoms
Infants with Factor XIII deficiency are at risk for bleeding immediately after birth. Eighty percent develop bleeding from the umbilical cord stump. Bruising, bleeding in the mouth and gums during teething, and bleeding into muscles is common. Bleeding also occurs after surgery, injury or child birth. The bleeding is characteristically delayed anywhere between 12-36 hours after the injury or surgery. Wound healing is very poor and re-bleeding may continue for weeks or months. Bleeding into the joints is less common than it is in other forms of hemophilia; it occurs in only 20% of children with Factor XIII deficiency. Bleeding in the brain is the most dangerous and dreaded complication of Factor XIII deficiency. It occurs in 30% of affected children, often spontaneously or following minor trauma. Women with Factor XIII deficiency will miscarry up to 100% of their pregnancies.
Possible Causes
Factor XIII deficiency is inherited in an autosomally recessive manner. This means that two genes with a defect are necessary to have this disorder. The parents of the affected child are healthy, but each carries a copy of the
gene with a change. If both parents are carriers, there is a 25% chance that their children will develop this disease. Factor XIII deficiency is not contagious or preventable.
Factor XIII deficiency is caused by a change in a specific
gene located on
chromosome 6. This
gene normally makes Factor XIII protein, which plays an important role in blood clotting. Without Factor XIII, blood clots are unstable and break up after several hours or days, allowing for bleeding to start again.
Diagnosis
A clot solubility test can identify most cases of Factor XIII deficiency. However, the best method for diagnosing Factor XIII deficiency involves measuring the level of Factor XIII in the blood. Other tests of blood clotting such as platelet count, bleeding time, prothrombin time, activated thromboplastin time (aPTT), and fibrinogen usually yield normal results in persons with Factor XIII deficiency.
DNA testing is also available.
Treatment
Special blood products called Fresh Frozen Plasma and Cryoprecipitate are available to control bleeding. The treatment of choice is pasteurized concentrated human Factor XIII. An intravenous infusion every 4 to 6 weeks provides adequate plasma levels of Factor XIII to prevent bleeding -- most importantly in the brain. During pregnancy, infusions are recommended every 3 weeks to prevent miscarriage. A booster dose is administered during labor to decrease the risk of bleeding in the mother. Similarly, children should receive extra infusions prior to surgery.
Children with Factor XIII deficiency should wear a MedicAlert bracelet to notify health personnel of their bleeding disorder. Consultation with a Pediatric Hematologist is recommended.
Prognosis
Bleeding in the brain can be life-threatening. With appropriate treatment, bleeding can be prevented and the prognosis is very good.
Connect with other parents
In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease,
please fill out this brief form.
Weblinks
National Hemophilia Foundation
http://www.hemophilia.org
Provides education, research, charity events and advocacy.
World Federation of Hemophilia
http://www.wfh.org
An international not-for-profit organization providing education, special events, newsletters, and resources.
The Hemophilia Federation of America
http://www.hemophiliafed.org/
A national nonprofit organization providing assistance and advocacy.
Canadian Hemophilia Society
http://www.hemophilia.ca/en/2.3.9.php
Great website that contains very relevant information on the condition.
Google Search for Factor XIII Deficiency
References and Sources
www.emedicine.com/ped/topic3040.htm
www.hemophilia.ca/en/2.3.9.php
www.hemophilia.org/bdi/bdi_types11.htm
Anwar et al. (2002) Delayed Umbilical Bleeding – A Presenting Feature for Factor XIII Deficiency: Clinical features, Genetics, and Management. Pediatrics 109(2); 1-7.
