Factor XIII deficiency is a rare genetic blood disorder characterized by a scarcity or malfunction of Factor XIII, a clotting protein in the blood. Also known as fibrin stabilizing factor, Factor XIII is involved in the final stages of the blood clotting process, working to strengthen the clot formed by fibrin.
Factor XIII deficiencies are classified into two types: congenital and acquired. Congenital Factor XIII deficiency, the more common type, is inherited as an autosomal recessive trait, leading to insufficient or defective Factor XIII production from birth. Acquired Factor XIII deficiency, on the other hand, occurs as a result of other medical conditions, such as liver disease, inflammatory bowel disease, or the formation of antibodies against Factor XIII.
Individuals with Factor XIII deficiencies often experience abnormal bleeding and clotting symptoms, including prolonged bleeding from wounds, easy bruising, spontaneous bleeding into muscles or joints, and recurrent miscarriages in females. The severity of symptoms can vary among affected individuals, ranging from mild bleeding tendencies to potentially life-threatening bleeding complications.
Diagnosis of Factor XIII deficiency involves laboratory tests to measure levels of Factor XIII in the blood, as well as genetic testing to identify specific genetic mutations. Treatment primarily involves regular administration of Factor XIII concentrate to replace the missing or defective protein. This treatment regimen aims to prevent bleeding episodes, promote wound healing, and reduce the risk of recurrent miscarriages in females. Genetic counseling is recommended for individuals with congenital Factor XIII deficiencies and their families to understand the inheritance pattern and associated risks.
