Factor XIII Deficiency is a rare inherited bleeding disorder characterized by a deficiency or dysfunction of Factor XIII, a clotting protein. It affects both males and females worldwide, with an estimated prevalence of 1 in 2-5 million individuals. The disorder can lead to abnormal bleeding, delayed wound healing, and spontaneous miscarriages in women. Diagnosis is typically made through blood tests and genetic analysis. Treatment involves replacement therapy with Factor XIII concentrate to prevent bleeding episodes. Early detection and appropriate management are crucial for improving the quality of life for individuals with Factor XIII Deficiency.
Factor XIII Deficiency, also known as fibrin-stabilizing factor deficiency, is a rare inherited bleeding disorder characterized by the deficiency or dysfunction of Factor XIII, a clotting protein responsible for stabilizing blood clots. This condition is autosomal recessive, meaning that both parents must carry the defective gene for their child to be affected.
The prevalence of Factor XIII Deficiency is estimated to be approximately 1 in 2 million individuals worldwide. It affects both males and females equally, with no specific ethnic or racial predilection. Due to its rarity, this disorder often goes undiagnosed or misdiagnosed, leading to delayed or inadequate treatment.
Factor XIII Deficiency can present with a wide range of symptoms, including spontaneous bleeding, delayed wound healing, recurrent miscarriages in affected women, and abnormal bleeding after surgery or trauma. The severity of symptoms can vary from mild to severe, with some individuals being asymptomatic.
Early diagnosis and appropriate management are crucial to prevent complications associated with Factor XIII Deficiency. Treatment typically involves regular infusions of Factor XIII concentrate to replace the deficient protein and prevent bleeding episodes. Genetic counseling is recommended for individuals with a family history of the disorder.