congenital factor XIII deficiency

Congenital factor XIII deficiency is an inherited bleeding disorder that affects the blood clot stabilization process. It is caused by pathogenic variants in the F13A1 and F13B genes, leading to reduced levels and activity of factor XIII. Affected individuals are typically identified early in life when bleeding complications become evident, such as abnormal bleeding from the umbilical cord at birth. The condition is very rare, affecting fewer than 1 in 1,000,000 people.

The clinical features of congenital factor XIII deficiency primarily revolve around bleeding complications. Characteristic findings include reduced factor XIII activity and abnormal umbilical stump bleeding in newborns, as well as umbilical cord hematoma. As the condition presents, individuals may experience joint hemorrhage, spontaneous hematomas, cerebral and subcutaneous hemorrhages, and prolonged bleeding following trauma, surgery, or dental extractions. Additional bleeding manifestations such as bruising, oral cavity bleeding, epistaxis, and defective wound healing are observed. Not all individuals experience all features, and severity varies considerably.

Congenital factor XIII deficiency is linked to pathogenic variants in the F13A1 and F13B genes. Factor XIII is an essential protein that helps stabilize blood clots by cross-linking fibrin, and a deficiency disrupts this process, leading to a bleeding diathesis and impaired wound healing. The precise inheritance pattern is not detailed in the available data, and families may benefit from genetic counseling to better understand the implications and risks associated with the genetic findings.

Currently, management focuses on supportive care and symptom management. There are no FDA-approved treatments specifically linked to congenital factor XIII deficiency, so treatment is tailored to the individual’s needs and typically involves a multidisciplinary team. Regular surveillance is an essential part of long-term care, helping to identify potential complications before they become serious. Patients should discuss treatment options with their healthcare team to determine which supportive measures may be most appropriate, and genetic counseling is recommended for families.

Outcomes for congenital factor XIII deficiency vary widely among affected individuals. While the condition can present significant bleeding challenges, modern standards of care and proactive management strategies have led to improved outcomes over time. Outcomes described in medical literature continue to evolve as standards of care improve, underscoring the importance of regular monitoring and a multidisciplinary approach to management. Families often find it helpful to connect with specialists experienced in bleeding disorders to receive guidance and support.