What Is Factor XIII Deficiency? 

Factor XIII (fibrin stabilization factor) deficiency is an inherited bleeding disorder caused by a defect or lack of protein in the blood (factor XIII) which helps blood clot. It is rare, affecting approximately one in 1,000,000 people. It is passed from parent to child and is an autosomal recessive disorder, meaning that both parents must carry the defective gene in order to pass it on to their child and that it affects both males and females.

Symptoms

In over 80% of cases, symptoms begin at birth when there is bleeding from the umbilical cord stump. People with factor XIII deficiency have a tendency toward lifelong bleeding episodes because of the early onset of bleeding associated with the umbilical cord stump or the central nervous system.

People with factor XIII deficiency may experience:

• poor wound healing and abnormal scar formation
• severe bruising
• prolonged bleeding after trauma (injury)
• delayed bleeding of several hours, or even days, after trauma
• bleeding in muscles
•  bleeding in joints (hemarthroses)
• excessive bleeding after surgery or dental procedures

Diagnosis

Factor XIII deficiency is difficult to diagnose. The standard blood clotting tests are normal, and many labs do not have much experience of doing the screening tests or the factor assays. The high rate of babies bleeding at birth usually leads to early diagnosis.

Treatment

Factor XIII deficiency is treated with:

• factor XIII concentrates
• cryoprecipitate
• fresh frozen plasma (FFP)

 
Content reviewed by Dr. Paula Bolton-Maggs
Consultant Haemotologist
Manchester Haemophilia Comprehensive Care
Manchester Royal Infirmary
Manchester, UK.

Updated December 2007