Factor XIII deficiency is an inherited bleeding disorder that is caused by a problem with factor XIII. Because the body produces less factor XIII than it should, or because the factor XIII is not working properly, the clotting reaction is blocked prematurely and the blood clot does not form.

Factor XIII deficiency is an autosomal recessive disorder, which means that both parents must carry the defective gene in order to pass it on to their child. It also means that the disorder affects both males and females. Factor XIII deficiency is very rare, but like all autosomal recessive disorders, it is found more frequently in areas of the world where marriage between close relatives is common.

Symptoms

Most people with factor XIII deficiency experience symptoms from birth, often bleeding from the umbilical cord stump. Symptoms tend to continue throughout life. As a general rule, the less factor XIII a person has in his/her blood, the more frequent and/or severe the symptoms.

Common symptoms

• bleeding from the umbilical cord stump at birth
• nosebleeds (epistaxis)
• easy bruising
• bleeding into joints (haemarthrosis)
• bleeding in the central nervous system (the brain and spinal cord)
• bleeding in the mouth, particularly after dental surgery or tooth extraction
• poor wound healing and abnormal scar formation
• bleeding in soft tissue
• problems during pregnancy (including recurrent miscarriages)
• bleeding after circumcision
• abnormal bleeding during or after injury or surgery

Other reported symptoms

• heavy or prolonged menstrual bleeding (menorrhagia)
• blood in the urine (haematuria)
• bleeding in the gut (gastrointestinal haemorrhage)
• muscle bleeds

Rare symptoms

• bleeding in the spleen, lungs, ears or eyes

Diagnosis

Factor XIII deficiency is difficult to diagnose. Standard blood clotting tests do not detect the deficiency, and many laboratories are not equipped with more specialised tests that measure the amount of factor XIII in a blood sample or how well factor XIII is working. The high rate of bleeding at birth usually leads to early diagnosis.

Treatment

There are several treatments available to help control bleeding in people with factor XIII deficiency.

• Factor XIII concentrate
• Cryoprecipitate
• Fresh Frozen Plasma (FFP)

Excessive menstrual bleeding in women with factor XIII deficiency may be controlled with hormonal contraceptives (birth control pills) or antifibrinolytic drugs.