RESUMO
Plasma protein-C is a natural anticoagulant that inactivates factors Va and VIIIa. Familial protein C deficiency is inherited as an autosomal dominant disorder. The homozygous or compound heterozygous type may present early as purpura fulminant, while the heterozygous type can present as thromboembolism later in life. Presented in this report is a case of a 21-year-old female patient with protein-C deficiency, confirmed by thrombophilia investigations. She experienced recurrent deep vein thrombosis and cerebral sinus thrombosis due to thrombotic occlusion. She had a family history of deep vein thrombosis. Hence, high-risk cases should be seriously considered for long term anticoagulation therapy. The utility versus futility of thrombophilia testing in a particular situation is discussed to address and ensure safe practice among patients with thromboembolism.
Assuntos
Deficiência de Proteína C , Trombose do Seio Sagital , Trombofilia , Trombose Venosa , Adulto , Anticoagulantes , Feminino , Humanos , Deficiência de Proteína C/complicações , Deficiência de Proteína C/diagnóstico , Deficiência de Proteína C/genética , Trombose do Seio Sagital/genética , Trombofilia/complicações , Trombofilia/diagnóstico , Trombofilia/genética , Adulto JovemRESUMO
A 21-year-old woman was admitted with right hemiparesis, bilateral papilledema, negative myoclonus of right upper extremity, and bilateral pyramidal findings. An MRI showed no venous flow in the inferior sagittal sinus. Lipoprotein a (Lp [a]) level was high and iron deficiency anemia (IDA) was found. The coexistence of IDA and Lp (a) in patients with cerebral venous thrombosis is a very rare condition in adult patients. These risk factors should be investigated in patients with cerebral venous thrombosis.
Assuntos
Anemia Ferropriva/complicações , Hiperlipoproteinemias/complicações , Trombose do Seio Sagital/etiologia , Anemia Ferropriva/genética , Corpo Caloso/patologia , Feminino , Humanos , Hiperlipoproteinemias/genética , Imageamento Tridimensional , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Trombose do Seio Sagital/diagnóstico , Trombose do Seio Sagital/genética , Adulto JovemRESUMO
Cerebral veno-sinus thrombosis (CVT) during puerperium may have fatal consequences. A nonspecific clinical picture must be complete with computed tomography of the brain and digital substract angiography of the brain blood vessels, and, once the clinical diagnosis is confirmed, coagulation tests and genetic analysis of the coagulation factor are to be made as well. Genetic polymorphisms associated with thrombophilia such as factor V Leiden, prothrombin G20210A, MTHFR C677T, ACE and PIA1/A2 may be the cause of the hypercoagulability that results in CVT.
Assuntos
Coagulação Sanguínea/genética , Mutação , Período Pós-Parto , Complicações Cardiovasculares na Gravidez/genética , Trombose do Seio Sagital/genética , Trombofilia/genética , Adulto , Fator V/genética , Feminino , Predisposição Genética para Doença , Humanos , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Peptidil Dipeptidase A/genética , Inibidor 1 de Ativador de Plasminogênio/genética , Inibidor 2 de Ativador de Plasminogênio/genética , Gravidez , Complicações Cardiovasculares na Gravidez/sangue , Complicações Cardiovasculares na Gravidez/patologia , Protrombina/genética , Trombose do Seio Sagital/sangue , Trombose do Seio Sagital/patologia , Trombofilia/sangue , Trombofilia/complicações , Trombofilia/patologia , Tomografia Computadorizada por Raios XRESUMO
A 5-year-old girl in whom the diagnosis of inherited factor XIII deficiency was established at the age of 1 day presented with cryptic tonsillitis along with drowsiness and an abrupt occurrence of getting left interior cross eyed. While an intracranial hemorrhage was expected, cerebral imaging studies surprisingly revealed multiple sino venous thrombosis. In prothrombotic screening studies she and her father were both found to be heterozygous for factor V Leiden mutation along with having elevated levels of lipoprotein(a). Low-molecular-weight heparin was started. Ventriculoperitoneal shunt was applied because of persistence of increased intracranial pressure. Thrombosis disappeared and blood flow was normalized by the end of 2 months and the patient was discharged on coumadin therapy as being well. We would like to report this unusual case and to discuss the possible effects of two major genetic prothrombotic risk factors on inherited bleeding tendency or vice versa.
Assuntos
Fator V , Deficiência do Fator XIII/complicações , Lipoproteína(a)/sangue , Trombose do Seio Sagital/genética , Anticoagulantes/uso terapêutico , Angiografia Cerebral , Pré-Escolar , Consanguinidade , Fator V/genética , Deficiência do Fator XIII/genética , Feminino , Heterozigoto , Humanos , Trombose do Seio Sagital/tratamento farmacológico , Varfarina/uso terapêuticoRESUMO
Behçet's disease is a multisystem inflammatory disorder of unknown etiology. We report a 12-year-old boy who presented with features of raised intracranial tension and seizures and was found to have cerebral venous sinus thrombosis on evaluation. Behçet's disease was diagnosed based on occurrence of recurrent oral and genital ulcers in the past and characteristic skin lesions subsequently. He also showed significant personality changes including multiple attempts of deliberate self-harm. Pedigree analysis revealed that six family members spanning three generations had recurrent oral ulcers and three members satisfied the criteria for Behçet's disease. Clinical features varied amongst the family members and there was suggestion of genetic anticipation. The index case was carrying HLA-B37/B7 and the mother was carrying B37/B40. Our report sheds light on the genetics of Behçet's disease. Unusual features were early age of onset, cerebral venous sinus thrombosis, significant personality changes and strong family history with phenotypic heterogeneity.
