INHERITED PROTHROMBOTIC RISK FACTORS IN CHILDREN WITH INTRACRANIAL VENOUS THROMBOSIS: SINGLE CENTER EXPERIENCE IN TURKEY
(Abstract release date: 05/21/15)
EHA Library. Patıroglu T. 06/12/15; 102761; PB2064
Disclosure(s): Erciyes University Medical FacultyPediatric Hematology
Prof. Dr. Turkan Patıroglu
Contributions
Contributions
Abstract
Abstract: PB2064
Type: Publication Only
Background
Intracranial venous thrombosis (IVT) is a rare condition in childhood, with a wide variety of clinical features and etiologies.
Aims
We aimed to describe the inherited prothrombotic risk factors in children with IVT, confirmed by neuroimaging.
Methods
The retrospective study involved reviewing the records of patients who were admitted to our hospital during the years of 2010-2014. The patients diagnosed as having IVT, confirmed by neuroimaging were investigated for the common thrombophilia markers, such as protein C (PC), protein S (PS), antithrombin III (AT III), factor V G1691A and prothrombin 620210A mutations, methylenetetrahyrafolate reductase (MTHRF) C677T, and MTHFR A1298C genotypes.
Results
The clinical manifestations in 18 patients with IVT included headache, seizures, cranial nerve palsy, and hemiparesis. Transfer sinus thrombosis was the commonest site (50%) followed by diffuse sinus thrombosis ( 31.25%). Two patients had PC deficiency. Furthermore, one of them had homozygous MTHFR C677T genotype. No patient had PS and ATIII deficiencies, and prothrombin 620210A mutations. Eleven patients showed the MTHFR genotype (homozygous C677T, n=4, heterozygous C677T, n=5, heterozygous A1298 C, n=2); and 1 patient was carrier of heterozygous factor V mutation.
Summary
Early diagnosis by fast and safe radiological methods (neuroimaging of the brain), investigation of thrombophilia markers and the appropriate anti-clotting therapy in acute phase may prevent death due to IVT at the pediatric age.
Keyword(s): Anticoagulants, Venous thromboembolism
Session topic: Publication Only
Type: Publication Only
Background
Intracranial venous thrombosis (IVT) is a rare condition in childhood, with a wide variety of clinical features and etiologies.
Aims
We aimed to describe the inherited prothrombotic risk factors in children with IVT, confirmed by neuroimaging.
Methods
The retrospective study involved reviewing the records of patients who were admitted to our hospital during the years of 2010-2014. The patients diagnosed as having IVT, confirmed by neuroimaging were investigated for the common thrombophilia markers, such as protein C (PC), protein S (PS), antithrombin III (AT III), factor V G1691A and prothrombin 620210A mutations, methylenetetrahyrafolate reductase (MTHRF) C677T, and MTHFR A1298C genotypes.
Results
The clinical manifestations in 18 patients with IVT included headache, seizures, cranial nerve palsy, and hemiparesis. Transfer sinus thrombosis was the commonest site (50%) followed by diffuse sinus thrombosis ( 31.25%). Two patients had PC deficiency. Furthermore, one of them had homozygous MTHFR C677T genotype. No patient had PS and ATIII deficiencies, and prothrombin 620210A mutations. Eleven patients showed the MTHFR genotype (homozygous C677T, n=4, heterozygous C677T, n=5, heterozygous A1298 C, n=2); and 1 patient was carrier of heterozygous factor V mutation.
Summary
Early diagnosis by fast and safe radiological methods (neuroimaging of the brain), investigation of thrombophilia markers and the appropriate anti-clotting therapy in acute phase may prevent death due to IVT at the pediatric age.
Keyword(s): Anticoagulants, Venous thromboembolism
Session topic: Publication Only
Abstract: PB2064
Type: Publication Only
Background
Intracranial venous thrombosis (IVT) is a rare condition in childhood, with a wide variety of clinical features and etiologies.
Aims
We aimed to describe the inherited prothrombotic risk factors in children with IVT, confirmed by neuroimaging.
Methods
The retrospective study involved reviewing the records of patients who were admitted to our hospital during the years of 2010-2014. The patients diagnosed as having IVT, confirmed by neuroimaging were investigated for the common thrombophilia markers, such as protein C (PC), protein S (PS), antithrombin III (AT III), factor V G1691A and prothrombin 620210A mutations, methylenetetrahyrafolate reductase (MTHRF) C677T, and MTHFR A1298C genotypes.
Results
The clinical manifestations in 18 patients with IVT included headache, seizures, cranial nerve palsy, and hemiparesis. Transfer sinus thrombosis was the commonest site (50%) followed by diffuse sinus thrombosis ( 31.25%). Two patients had PC deficiency. Furthermore, one of them had homozygous MTHFR C677T genotype. No patient had PS and ATIII deficiencies, and prothrombin 620210A mutations. Eleven patients showed the MTHFR genotype (homozygous C677T, n=4, heterozygous C677T, n=5, heterozygous A1298 C, n=2); and 1 patient was carrier of heterozygous factor V mutation.
Summary
Early diagnosis by fast and safe radiological methods (neuroimaging of the brain), investigation of thrombophilia markers and the appropriate anti-clotting therapy in acute phase may prevent death due to IVT at the pediatric age.
Keyword(s): Anticoagulants, Venous thromboembolism
Session topic: Publication Only
Type: Publication Only
Background
Intracranial venous thrombosis (IVT) is a rare condition in childhood, with a wide variety of clinical features and etiologies.
Aims
We aimed to describe the inherited prothrombotic risk factors in children with IVT, confirmed by neuroimaging.
Methods
The retrospective study involved reviewing the records of patients who were admitted to our hospital during the years of 2010-2014. The patients diagnosed as having IVT, confirmed by neuroimaging were investigated for the common thrombophilia markers, such as protein C (PC), protein S (PS), antithrombin III (AT III), factor V G1691A and prothrombin 620210A mutations, methylenetetrahyrafolate reductase (MTHRF) C677T, and MTHFR A1298C genotypes.
Results
The clinical manifestations in 18 patients with IVT included headache, seizures, cranial nerve palsy, and hemiparesis. Transfer sinus thrombosis was the commonest site (50%) followed by diffuse sinus thrombosis ( 31.25%). Two patients had PC deficiency. Furthermore, one of them had homozygous MTHFR C677T genotype. No patient had PS and ATIII deficiencies, and prothrombin 620210A mutations. Eleven patients showed the MTHFR genotype (homozygous C677T, n=4, heterozygous C677T, n=5, heterozygous A1298 C, n=2); and 1 patient was carrier of heterozygous factor V mutation.
Summary
Early diagnosis by fast and safe radiological methods (neuroimaging of the brain), investigation of thrombophilia markers and the appropriate anti-clotting therapy in acute phase may prevent death due to IVT at the pediatric age.
Keyword(s): Anticoagulants, Venous thromboembolism
Session topic: Publication Only
{{ help_message }}
{{filter}}