congenital factor V deficiency

Congenital factor V deficiency is an inherited bleeding disorder characterized by reduced levels of factor V in the plasma, which can lead to a spectrum of bleeding symptoms. The condition is caused by pathogenic variants in the F5 gene and is typically inherited in an autosomal recessive pattern. Although individuals may be diagnosed at different stages in life, signs of abnormal bleeding often emerge during childhood or early adulthood. This condition is considered rare, affecting approximately 1 to 9 people per million.

Individuals with congenital factor V deficiency experience a range of bleeding manifestations that vary widely in severity. Common features include frequent nosebleeds (epistaxis) and joint hemorrhage, with a significant number reporting spontaneous hematomas and prolonged bleeding after surgical procedures or trauma. Other clinical features that have been noted in a subset of individuals include oral cavity bleeding, excessive menstrual bleeding (menorrhagia), gingival bleeding, hematuria, and gastrointestinal hemorrhage. Not all individuals experience all of these features, and the severity of symptoms can differ considerably over time, with some experiencing mainly mucosal bleeding while others have more pronounced hemorrhagic events.

Congenital factor V deficiency results from pathogenic variants in the F5 gene, which plays a crucial role in the blood coagulation cascade by encoding the clotting factor V protein. Disruption of normal factor V production leads to decreased clotting efficiency and an increased tendency to bleed. This condition is inherited in an autosomal recessive manner, which means that an affected individual has received one altered copy of the gene from each parent. That this condition is more common when parents share a common ancestor, as the likelihood of both parents carrying the same rare genetic variant is increased. Families may benefit from genetic counseling to better understand inheritance patterns and to discuss carrier testing, especially in cases where there is a known family history or consanguinity.

Currently, management of congenital factor V deficiency focuses on supportive care and symptom management, as there are no treatments that have been specifically approved for this condition. Treatment strategies are tailored to the individual and typically involve a multidisciplinary team experienced in managing bleeding disorders. In practice, therapeutic approaches may include the administration of replacement products or blood products during bleeding episodes, and ongoing care is aimed at minimizing complications. Regular surveillance is an essential part of long-term care, helping to identify potential complications early. Patients should discuss treatment options with their healthcare team to determine which strategies are most appropriate for their situation, and genetic counseling is recommended to provide guidance on family planning and management.

The course of congenital factor V deficiency is highly variable, and outcomes depend on the severity of bleeding, the age at diagnosis, and access to specialized care. With current standards of care, many individuals manage their symptoms effectively and experience improvements in quality of life over time. It is important to recognize that severity and symptoms vary widely between individuals; not everyone experiences the full spectrum of bleeding complications. Outcomes described in medical literature continue to evolve as standards of care improve, and ongoing follow-up with healthcare professionals is essential. Families often find it helpful to connect with a hematologist or specialist familiar with bleeding disorders, and genetic counseling can provide guidance on long-term management and family planning.