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The role of primary prophylactic factor replacement therapy in children with severe factor X deficiency
Corrina McMahon1, Judith Smith, Collette Goonan
1National Centre for Hereditary Coagulation Disorders, AMNCH, and St James' Hospital Dublin, Ireland.
Insights
Severe Factor X deficiency in children can cause significant bleeding. Early prophylaxis with Factor IX concentrate helps prevent joint damage and improves quality of life.
Area of Science:
- Hematology
- Pediatric Coagulation Disorders
Background:
- Severe Factor X (FX) deficiency is a rare inherited bleeding disorder.
- Clinical symptoms include severe bleeding from umbilical cords, mucous membranes, joints, and the central nervous system.
Observation:
- Four Irish children with severe FX deficiency presented with umbilical cord bleeding.
- Two of these children experienced severe hemorrhages: one intraperitoneal and one intracranial.
Findings:
- Prophylaxis with intermediate purity Factor IX concentrate was initiated within the first month of life for all four children.
- Two children required central venous access devices for treatment administration.
Implications:
- Early prophylactic treatment in infants with severe FX deficiency appears to prevent arthropathy.
- Initiating prophylaxis early in life significantly improves long-term joint health and overall quality of life for affected children.
Abstract:
Severe factor X (FX) deficiency is one of the severest inherited coagulation disorders. Clinical manifestations include umbilical cord, mucosal, joint and central nervous system bleeding. Four Irish children with severe FX deficiency presented with umbilical cord bleeding. One developed an intraperitoneal haemorrhage and another an intracranial bleed. Prophylaxis, using intermediate purity Factor IX concentrate, was commenced within the first month of life, necessitating the insertion of central venous access devices in two of the children. All children have normal joint function, suggesting that prophylaxis commenced early in life reduces the incidence of arthropathy and improves quality of life.