Congenital Factor XIII (FXIII) Deficiency
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Congenital Fibrinogen Deficiency
Congenital factor XIII deficiency is a rare inherited bleeding disorder. The prevalence is estimated to about 1-3 per 1 million people. In contrast to people with the more common hemophilia A and B, who display everything from mild to severe disease, factor XIII deficiency is in the majority of cases severe. One of the cardinal symptoms is umbilical stump bleeding, which occurs in about 80% of people with congenital factor XIII deficiency within a few days of birth.
Symptoms include bleeding in subcutaneous tissue, mouth and gums as well as joint and muscular bleeds. The most feared and potentially fatal location is intracranial hemorrhage which occurs in about 30% of untreated people with congenital factor XIII deficiency. As people with inadequately treated factor XIII deficiency run the risk of intracranial haemorrhage at any time during life, their prospects of leading a long, healthy life can be greatly impacted.
The treatment aims at restoring factor XIII to an acceptable level, where the patient is protected against bleeding episodes, a so called substitution therapy.