Severe Congenital Factor X Deficiency as a First Case Report in Cambodia

Area of Science:

• Hematology
• Genetics
• Pediatrics

Background:

• Factor X (FX) deficiency is a rare, autosomal recessive inherited bleeding disorder with low prevalence.
• No cases of FX deficiency were previously reported in Cambodia.
• Consanguinity increases the risk of rare genetic disorders.

Observation:

• A 14-year-old Cambodian boy presented with recurrent gum bleeding, hematomas, joint ankylosis, and blue sclera.
• He had no family history of bleeding disorders but was born to consanguineous parents.
• Laboratory tests showed prolonged PT and APTT with FX activity < 1%.

Findings:

• The patient was diagnosed with severe congenital Factor X deficiency.
• Bleeding was successfully managed using fresh frozen plasma (FFP).
• Initial FFP dose was 15 mL/kg, followed by 5 mL/kg twice daily maintenance doses.

Implications:

• FX deficiency should be considered in pediatric patients with unexplained bleeding and prolonged PT/APTT.
• Diagnosis is crucial in resource-limited settings like Cambodia, especially with consanguinity.
• Fresh frozen plasma is a vital treatment option for FX deficiency when FX concentrates are inaccessible.