Learn More About Factor XIII Deficiency

Symptoms

People with factor XIII deficiency can bleed internally even after mild bumps or bruises. The blood can collect in surrounding soft tissues, and over time, it can form large cysts that cause nerve damage and destroy bone. Mild head trauma can lead to brain and spinal cord hemorrhage.

About 25 percent of people with factor XIII deficiency can experience brain and spinal cord hemorrhage after mild head trauma. Although the bleeding might stop on its own, it is still a serious risk factor for patients. Symptoms can include headaches, vomiting, seizures, and problems with speech, vision, and hearing.

Other symptoms can include blood in the urine, poor wound healing, abnormal wound bleeding, and blood blisters inside the abdomen. Pregnant women can miscarry if they don’t receive treatment. In men, factor XIII deficiency can cause low sperm counts or sterility. These problems often do not respond to treatment.

People with factor XIII deficiency should be careful using aspirin or other medications that can cause bleeding.


Causes

There are two types of factor XIII deficiency: inherited and acquired.

Inherited Factor XIII Deficiency

Inherited factor XIII deficiency stems from mutations of two genes that together control the body’s production of factor XIII. The mutations reduce the amount of functional factor XIII in the blood, potentially lowering it to less than 5 percent of normal levels.

Acquired Factor XIII Deficiency

Acquired factor XIII deficiency can be caused by several medical conditions, including hepatitis, cirrhosis, inflammatory bowel disease, overwhelming bacterial infections, several types of cancer, and abnormal immune system activation. The acquired form of the deficiency is relatively mild, with blood levels of factor XIII at 20–70 percent of normal. Patients usually don’t have bleeding episodes if levels are above 10 percent of normal.


Treatment

Inherited factor XIII deficiency can be treated with Corifact® (factor XIII concentrate [human]), generally infused every 3–4 weeks for prophylactic dosing. Alternatively, patients with factor XIII A-subunit deficiency can also be treated with Tretten® (coagulation factor XIII A-subunit [recombinant]). Because the blood only needs about 10 percent of the standard level of factor XIII to respond normally to trauma, the doses can be small. Patients can also receive transfusions of cryoprecipitates (blood plasma), but this is an emergency measure.

Corifact and Tretten are available through Diplomat Specialty Infusion Group. Patients on these medications must be careful not to exceed the labeled dose. High doses can lead to abnormal clotting and side effects.

Sources

Genetic and Rare Diseases Information Center, Genetics Home Reference, MedScape

The information contained herein may not be construed as medical advice. It is for educational purposes only. Diplomat Pharmacy Inc. takes no responsibility for the accuracy or validity of the information contained herein, nor the claims or statements of any manufacturer. Reference to a specific product, process, or service does not constitute an endorsement or recommendation by Diplomat Pharmacy Inc. Any such reference is provided for educational purposes only.