Definition:
Factor XIII Deficiency, Congenital –is a very uncommon hereditary blood disorder that is characterized by anomalous blood clotting resulting in abnormal bleeding. Factor XIII is fundamentally a ‘plasma transglutaminase', which catalyzes the last step of coagulation cascade; it cross-links ‘loose fibrin polymer' into an extremely organized structure. Defect in Factor XIII results to the symptoms of the deficiency.
Diagnosis:
If Factor XIII deficiency is suspected, blood tests are performed. Other basis for diagnosis includes screening tests, functional assays, immunologic assays, and genotyping.
Treatment:
Treatments include the supplementation of fresh frozen plasma or cryoprecipitate. Factor XIII concentrate has also been used to replace FXIII and treating bleeding. Prophylaxis is the choice for treatment strategy because FXIII levels that are above three to five percent are typically sufficient to stop spontaneous bleeding. Prophylactic therapy provides sufficient plasma levels in the majority of patients.
Symptoms and Signs:
Manifestations of the deficiency include joint bleeding, brain bleeding, spontaneous abortions, menorrhagia, male infertility, too much bleeding around the umbilical cord, excessive bleeding after surgery or trauma, bleeding in soft tissue, poor healing of wound, and other bleeding problems.
Causes:
The deficiency is typically caused by mutations in Catalytic A subunit. There are more than forty various mutations identified, resulting to extreme bleeding diathesis. Other diseases, such as Henoch-Schonlein Purpura and Sickle Cell Disease, can also cause the deficiency.
:
factorxiiideficiencycongenital
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