Hemophilia C in Children
Hemophilia C in Children
Hemophilia C, also known as factor XI deficiency, is a rare inherited bleeding disorder characterized by deficient or dysfunctional factor XI, a protein involved in the blood coagulation cascade. While less common than hemophilia A and B, hemophilia C can still have significant implications for affected children.
Epidemiology
- Hemophilia C is relatively rare compared to hemophilia A and B, with varying prevalence rates depending on the population studied.
- It occurs in individuals of all racial and ethnic backgrounds, but certain populations, such as Ashkenazi Jews, have a higher prevalence of factor XI deficiency.
- The prevalence of hemophilia C in the general population is estimated to be around 1 in 100,000 individuals.
Causes
Hemophilia C is caused by mutations in the F11 gene, which encodes factor XI. These mutations result in deficient or dysfunctional factor XI protein, leading to impaired blood clotting and a tendency to bleed excessively.
Pathogenesis
The pathogenesis of hemophilia C involves the absence or dysfunction of factor XI, which plays a crucial role in the intrinsic pathway of the coagulation cascade. Factor XI deficiency leads to impaired formation of thrombin, resulting in delayed or inadequate blood clot formation and prolonged bleeding times.
Clinical Features
Children with hemophilia C may present with various clinical manifestations related to abnormal bleeding tendencies. Common clinical features include:
- Prolonged bleeding after minor injuries or surgical procedures
- Easy bruising
- Nosebleeds (epistaxis)
- Bleeding into joints (hemarthrosis), leading to pain, swelling, and restricted movement
- Bleeding gums
- Excessive menstrual bleeding in adolescent females
Complications
Untreated or poorly managed hemophilia C in children can lead to various complications, including:
- Joint damage and chronic arthropathy due to recurrent hemarthrosis
- Anemia secondary to chronic blood loss
- Delayed wound healing and increased risk of infection
- Excessive bleeding during surgical procedures or dental interventions
- Impaired quality of life due to pain, disability, and psychological impact
Differential Diagnosis
Conditions that may mimic the clinical features of hemophilia C in children include:
| Condition | Features |
|---|---|
| Von Willebrand disease | Abnormal bleeding tendency, prolonged bleeding time, normal factor XI levels |
| Platelet disorders (e.g., thrombocytopenia) | Abnormal platelet function, decreased platelet count |
| Other inherited coagulation factor deficiencies | Specific factor assays needed for diagnosis |
Diagnosis
Diagnosis of hemophilia C in children typically involves:
- Complete blood count (CBC) to assess platelet count and hemoglobin levels
- Coagulation studies, including activated partial thromboplastin time (aPTT) and specific factor assays to measure factor XI levels
- Genetic testing to identify mutations in the F11 gene (optional in certain cases)
- Assessment of bleeding history and family history of bleeding disorders
Treatment
Treatment of hemophilia C in children aims to prevent and manage bleeding episodes, reduce the risk of complications, and improve quality of life. Treatment strategies may include:
- Replacement therapy with factor XI concentrates or fresh frozen plasma to correct factor XI deficiency and control bleeding
- Desmopressin (DDAVP) administration in mild cases to stimulate factor XI release from endothelial cells
- Prophylactic treatment to prevent bleeding episodes in children with severe hemophilia C or a history of frequent bleeding
- Management of bleeding episodes with appropriate hemostatic agents and supportive care measures
- Physical therapy and joint protection strategies to minimize joint damage and improve mobility
Prognosis
The prognosis of hemophilia C in children varies depending on the severity of factor XI deficiency, the frequency of bleeding episodes, and the effectiveness of treatment. With appropriate management, many children with hemophilia C can lead relatively normal lives with minimal complications.
Prevention
Preventive measures for hemophilia C in children may include:
- Genetic counseling and testing for families with a history of hemophilia C or known F11 gene mutations
- Avoidance of activities or situations that may increase the risk of bleeding, such as contact sports or use of certain medications
- Prompt treatment of bleeding episodes to prevent complications and minimize long-term joint damage
- Education of children and their families about the signs and symptoms of bleeding and the importance of adherence to treatment regimens
