PB0647 - Prothrombin complex concentrate for prophylaxis in a patient with Factor II deficiency, a case report

Background: Factor II deficiency is a rare coagulation deficiency with a prevalence of 1:1,000,000 and two main phenotypes: hypoprothrombinaemia and dysprothrombinaemia1. Bleeding phenotype encompass a spectrum from severe hemarthroses and muscle hematomas to gum bleeding and epistaxis2. Treatment depends on severity of symptoms, and, as a specific FII concentrate is unavailable, cornerstone of management involves antifibrinolytics for mild bleeding and prothrombin complex concentrates (PCC) for severe bleeding episodes or prophylaxis3.

Aims: Case report: We present the case of an 8-year-old male who was previously diagnosed with congenital factor II deficiency. Notably, his younger brother, also diagnosed with factor II deficiency, died two years prior due to central nervous system hemorrhage. came into consult with a history of recurrent hemorrhage, mainly epistaxis and gum bleeding, the patient’s pediatric bleeding questionnaire (PBQ) score was 15 points. Despite prior use of antifibrinolytics with no improvement, the patient presented with a Factor II activity level of 8% at the time of consultation.

Methods: We initiated prothrombin complex concentrate (Octaplex®, Octapharma AG) at a dose of 20 IU/kg every 3 days

Results: We initiated prothrombin complex concentrate (Octaplex®, Octapharma AG) at a dose of 20 IU/kg every 3 days, aiming at a minimum FII of 10%4. The patient showed an improvement of the PBQ score to 5 points within the first month of treatment and currently has no increased bleeding.

Conclusion(s): This case underscores the complexities associated with FII deficiency and emphasizes the utility of PCC-based prophylaxis, which should be a tailored intervention based on symptom severity and burden, aiming not only for symtomatic control, but specialy for restoring quality of life.