Plasma‐derived Factor X therapy for treatment of intracranial bleeding in a patient with Factor X deficiency: a case report

Abstract

BACKGROUND: Factor X (FX) deficiency (FXD) is an extremely rare autosomal recessive hereditary hematologic disorder, affecting approximately one in 1,000,000 of the general population. CASE REPORT: This case report describes an infantwith hereditary severe FXD who presented with a spontaneous, life-threatening intracranial hemorrhage and was treated with the first licensed plasma-derived FX (pdFX) concentrate. On admission, laboratory assays showed severe coagulopathy of unknown cause; the patient was empirically treated using a multimodal hemostatic approach with prothrombin complex concentrate, fresh-frozen plasma, and tranexamic acid. Subsequent single-factor coagulation and genetic analyses confirmed the hereditary FXD diagnosis, and the therapeutic regimen was changed to a targeted regimen of 250 IU pdFX daily. Based on careful monitoring of the coagulation profile, pdFX administration frequency was increased to twice daily, followed by a reduction to once every 18 hours. The patient was discharged after 7 weeks of hospitalization in good clinical condition and now receives prophylactic pdFX three times weekly.ABBREVIATIONS: aPTT = activated partial thromboplastin time;FX:C = Factor X activity; FXD = Factor X deficiency; ICH = intracranial hemorrhage; INR = international normalized ratio; PCC(s) = prothrombin complex concentrate(s); pdFX = plasmaderived Factor X.From the

Use of plasma‐derived factor X concentrate in neonates and infants with congenital factor X deficiency

“…This infant required pdFX 35 IU/kg every 18 hours to maintain FX:C > 50 IU/dL during treatment of the acute bleed. The dosing interval was spaced to thrice weekly for secondary prophylaxis 19 …”

Occurrence and management of severe bleeding episodes in patients with hereditary factor X deficiency

“…The single‐factor plasma‐derived FX (pdFX) product was used to treat two patients. 14 , 37 Treatment with danazol was attempted in a few instances with limited efficacy. 16 , 38 Whole blood or red blood cell transfusions and vitamin K were also used, in some instances even after a diagnosis of FX deficiency was made, suggesting that the physicians may have been unfamiliar with the pathophysiology of the disorder or had limited access to appropriate agents for FX repletion.…”

“…Prophylactic treatment of hereditary FX deficiency was reported in 33 publications and included FFP (mentioned in seven publications), 6 , 16 , 28 , 38 , 42 , 43 , 44 PCC (19 publications) 19 , 35 , 41 , 43 , 45 , 46 , 47 , 49 and/or pdFX (two publications), 14 , 37 with some publications not specifying the therapy or reporting more than one therapy.…”

“…For treatment of bleeds related to FX deficiency, 33 case reports and studies mentioned the use of FFP, and 23 mentioned treatment with PCC, 15,16,19,20,24–36 with some patients receiving both FFP and PCC. The single‐factor plasma‐derived FX (pdFX) product was used to treat two patients 14,37 . Treatment with danazol was attempted in a few instances with limited efficacy 16,38 .…”

“…16,38 Whole blood or red blood cell transfusions and vitamin K were also used, in some instances even after a diagnosis of FX deficiency was made, suggesting that the physicians may have been unfamiliar with the pathophysiology of the disorder or had limited access to appropriate agents for FX repletion. 7,24,25,[39][40][41] Prophylactic treatment of hereditary FX deficiency was reported in 33 publications and included FFP (mentioned in seven publications), 6,16,28,38,[42][43][44] PCC (19 publications) 19,[24][25][26][27][28][30][31][32][33][34][35]41,43,[45][46][47][48][49] and/ or pdFX (two publications), 14,37 with some publications not specifying the therapy or reporting more than one therapy.…”