Contributions
Type: Publication Only
Background
Combined deficiency of coagulation factors is considered as an extremely rare bleeding disorder (RBD) inherited in an autosomal recessive pattern. Combined FX et FVII deficiency appear also associated with coagulation-unrelated abnormalities (carotid body tumors, mitral valve prolapse, atrial septal defect, ventricular septal defect, thrombocytopenia absent radius- TAR syndrome, mental retardation, microcephaly and cleft palate).
Aims
The purpose of our case report was to evaluate therapy options for prevention of bleeding in patient with hereditary combined deficiency of FVII and FX who underwent surgery.
Methods
Application recombinant activated factor VII (NovoSeven) in patient with congenital combined deficiency of factor VII and factor X during surgery of lung tumor.
Results
A 19-year- old woman admited to the hospital due to preparation treatment before teeth extraction. Combined deficiency of factors VII and X has been diagnosed when she was 14 years old (27% FVII, FX 50%). In early childhood was noted the delay in physical development, with spastic paraparesis and brachydactyly on foot. Cytogentics analysis showed a normal female karyotype. Her sister also has a combined deficiency of FVII and FX with mental retardation. Patient had surgery operation of echinococcus cyst at age of 15 years, and teeth extraction on several occasions. Prior to teeth extraction patient received fresh frozen plasma (FFP), recombinant activated factor VII (rFVIIa) and antifibrinoyitic. Intervention proceeded without complications. Few months later, she was admited for teeth extraction (15 and 16) in general anesthesia, due to mental retardation. During the administration of FFP she developed severe allergic reactions with intensive urticaria, and anesthesiologist has not consented the intervention done. After 15 days the patient received rFVIIa 20μg/kg b.w. (2mg i.v.) and tranexamic acid imidiately before teeth extraction. It was performed without complications (25% FVII, FX 43% before therapy). Two days after the intervention, the patient had chast pain. ECG, cardiospecific enzymes and D-dimer were in the reference values. X-rays and CT of the chest showed a tumor in the left lung diameters 55x51x43 mm, which could corresponded as tumor or echinococcus cyst. In December 2014, underwent resection of lung tumor with preoperative application of rVIIa in a dose of 2 mg i.v (20μg/kg b.w) The therapy was continued at the same dose at 12 h following 5 days to remove the drain. The levels of FVII were from 80% to 130 % during the treatment. Histopathology examination showed hamartoma. During and after the surgical intervention she had not unexpected bleeding complications.
Summary
Therapy options for prevention of bleeding in patients with hereditary combined deficiency of FVII and FX, who underwent surgery, can be concentrate of rFVIIa, in dosage 20μg/kg, as the treatment of choice.
Keyword(s): Coagulation factors, Factor VIIa, Factor Xa, Lung cancer
Session topic: Publication Only
Type: Publication Only
Background
Combined deficiency of coagulation factors is considered as an extremely rare bleeding disorder (RBD) inherited in an autosomal recessive pattern. Combined FX et FVII deficiency appear also associated with coagulation-unrelated abnormalities (carotid body tumors, mitral valve prolapse, atrial septal defect, ventricular septal defect, thrombocytopenia absent radius- TAR syndrome, mental retardation, microcephaly and cleft palate).
Aims
The purpose of our case report was to evaluate therapy options for prevention of bleeding in patient with hereditary combined deficiency of FVII and FX who underwent surgery.
Methods
Application recombinant activated factor VII (NovoSeven) in patient with congenital combined deficiency of factor VII and factor X during surgery of lung tumor.
Results
A 19-year- old woman admited to the hospital due to preparation treatment before teeth extraction. Combined deficiency of factors VII and X has been diagnosed when she was 14 years old (27% FVII, FX 50%). In early childhood was noted the delay in physical development, with spastic paraparesis and brachydactyly on foot. Cytogentics analysis showed a normal female karyotype. Her sister also has a combined deficiency of FVII and FX with mental retardation. Patient had surgery operation of echinococcus cyst at age of 15 years, and teeth extraction on several occasions. Prior to teeth extraction patient received fresh frozen plasma (FFP), recombinant activated factor VII (rFVIIa) and antifibrinoyitic. Intervention proceeded without complications. Few months later, she was admited for teeth extraction (15 and 16) in general anesthesia, due to mental retardation. During the administration of FFP she developed severe allergic reactions with intensive urticaria, and anesthesiologist has not consented the intervention done. After 15 days the patient received rFVIIa 20μg/kg b.w. (2mg i.v.) and tranexamic acid imidiately before teeth extraction. It was performed without complications (25% FVII, FX 43% before therapy). Two days after the intervention, the patient had chast pain. ECG, cardiospecific enzymes and D-dimer were in the reference values. X-rays and CT of the chest showed a tumor in the left lung diameters 55x51x43 mm, which could corresponded as tumor or echinococcus cyst. In December 2014, underwent resection of lung tumor with preoperative application of rVIIa in a dose of 2 mg i.v (20μg/kg b.w) The therapy was continued at the same dose at 12 h following 5 days to remove the drain. The levels of FVII were from 80% to 130 % during the treatment. Histopathology examination showed hamartoma. During and after the surgical intervention she had not unexpected bleeding complications.
Summary
Therapy options for prevention of bleeding in patients with hereditary combined deficiency of FVII and FX, who underwent surgery, can be concentrate of rFVIIa, in dosage 20μg/kg, as the treatment of choice.
Keyword(s): Coagulation factors, Factor VIIa, Factor Xa, Lung cancer
Session topic: Publication Only