Which are the symptoms of Factor XIII Deficiency?

Factor XIII deficiency, also known as fibrin-stabilizing factor deficiency, is a rare inherited bleeding disorder characterized by the insufficient production or dysfunction of factor XIII, a clotting protein. This deficiency can lead to abnormal clot formation and delayed wound healing. The severity of symptoms can vary widely among affected individuals, ranging from mild to severe.

Bleeding tendencies: Individuals with factor XIII deficiency may experience spontaneous bleeding or prolonged bleeding following minor injuries or surgeries. The severity and frequency of bleeding episodes can vary, but they commonly affect the skin, muscles, and mucous membranes. Bleeding into joints (hemarthrosis) can also occur, leading to pain, swelling, and limited joint mobility.

Delayed wound healing: Due to the impaired clotting mechanism, individuals with factor XIII deficiency may experience delayed wound healing. Even minor cuts or abrasions can take longer to stop bleeding and form a stable clot, leading to prolonged healing time.

Easy bruising: Factor XIII deficiency can cause easy bruising, which is characterized by the appearance of bruises with minimal or no trauma. These bruises may be larger, more extensive, and take longer to fade compared to those in individuals without the condition.

Recurrent miscarriages: In women with factor XIII deficiency, recurrent miscarriages can occur due to impaired placental development and stability. This can lead to pregnancy complications, such as spontaneous abortion or preterm delivery.

Excessive bleeding after childbirth: Factor XIII deficiency can increase the risk of postpartum hemorrhage, where excessive bleeding occurs after giving birth. This can be a potentially life-threatening complication if not promptly managed.

Delayed umbilical cord separation: Infants born with factor XIII deficiency may exhibit delayed separation of the umbilical cord stump. This is due to the impaired clotting process, which can prolong the healing of the umbilical cord area.

Abnormal scar formation: Factor XIII deficiency can lead to abnormal scar formation, characterized by widened, raised, or thickened scars. This is because the fibrin clot, which is responsible for wound healing and scar formation, is unstable in individuals with factor XIII deficiency.

Other symptoms: Some individuals with factor XIII deficiency may experience additional symptoms, such as recurrent nosebleeds, gastrointestinal bleeding, blood in the urine (hematuria), or bleeding in the central nervous system, which can cause headaches, seizures, or neurological deficits.

It is important to note that the severity and specific symptoms of factor XIII deficiency can vary among individuals. Some individuals may have mild symptoms and remain undiagnosed until later in life, while others may experience more severe bleeding episodes from an early age. If factor XIII deficiency is suspected, it is crucial to consult with a healthcare professional for proper diagnosis and management.