Cerebral sinus thrombosis in a patient with hereditary protein S deficiency: Case report and review of the literature

Heistinger, Max; Rumpl, E.; Illiasch, H.; Türck, H.; Kyrle, Paul A.; Lechner, Klaus; Pabinger, Ingrid

doi:10.1007/bf01715355

Cited by 31 publications

(17 citation statements)

References 30 publications

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“…Despite the continuous description of new causes for CVT, to date, the fraction of cases with unknown cause is still more than 20%. [1][2][3][4][5][6][7] Recently, it has been reported that a G3 A transition at nucleotide position 20210 in the 3Ј-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and deep venous thrombosis. 8 The G 20210 3 A transition was found in a heterozygous form in 6.2% of 471 unselected consecutive patients with the first episode of deep venous thrombosis, but in only 2.3% of 474 healthy control subjects.…”

mentioning

confidence: 99%

Prothrombin Gene G ₂₀₂₁₀ →A Transition Is a Risk Factor for Cerebral Venous Thrombosis

Reuner

Ruf

Grau

et al. 1998

Stroke

138

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Background and Purpose-It has been recently reported that a G3 A transition at nucleotide position 20210 in the 3Ј-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increased risk of deep venous thrombosis. To date, it is unknown whether this polymorphism also represents a risk factor for cerebral venous thrombosis (CVT). Methods-Venous blood samples were collected from 45 patients with CVT and from 354 healthy blood donors as controls. A second control group consisted of 131 subjects with acute ischemic stroke or transient ischemic attack (TIA). Genomic DNA was isolated from peripheral blood leukocytes. Amplification of DNA was performed by polymerase chain reaction (PCR). The G3 A transition at nucleotide position 20210 of the prothrombin gene was detected by allele-specific restriction digestion. Results-The G 20210 3 A transition in the prothrombin gene was found in a heterozygous form in 4 of 45 patients with CVT (8.9%) and in 8 of 354 healthy control subjects (2.3%). This difference was statistically significant (Pϭ0.010). The G 20210 3 A transition increased the relative risk for CVT approximately 5-fold (age-adjusted odds ratio 5.7; 95% CI 1.5 to 21.5). In contrast, in the group of patients with acute cerebral ischemia, only 3 of 131 subjects (2.3%) were heterozygous for the G 20210 3 A transition, which corresponded to the prevalence in the group of healthy blood donors. Conclusions-The recently described G 20210 3 A transition in the 3Ј-untranslated region of the prothrombin gene is an inherited risk factor for CVT but obviously not for acute ischemic stroke or TIA. (Stroke. 1998;29:1765-1769.)

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mentioning

confidence: 99%

Prothrombin Gene G ₂₀₂₁₀ →A Transition Is a Risk Factor for Cerebral Venous Thrombosis

Reuner

Ruf

Grau

et al. 1998

Stroke

138

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“…Prothrombotic states (factor V Leiden, protein S deficiency and protein C deficiency) have been reported in association with cerebral venous sinus thrombosis. [9][10][11] Investigation for these conditions was not possible due to the administration of anticoagulant therapy and/or presence of concurrent conditions. A routine coagulopathy screen was normal although disseminated malignancy may induce a prothrombotic tendency despite normal coagulation indices.…”

Section: Discussionmentioning

confidence: 99%

“…4,5 Possible aetiologies of cerebral venous sinus thrombosis include infection, 6 venous catheter associated thrombosis, 7 vasculitis, 8 or prothrombotic conditions. [9][10][11] We report three cases of cerebral venous sinus thrombosis following allogeneic bone marrow transplantation: in all three cases the diagnosis was made using MRA.…”

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confidence: 99%

MR angiographic diagnosis of cerebral venous sinus thrombosis following allogeneic bone marrow transplantation

Harvey

Peniket

Miszkiel

et al. 2000

Bone Marrow Transplant

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Summary:Allogeneic bone marrow transplantation is frequently associated with neurological complications, particularly intracerebral bleeds and infections. Cerebral venous sinus thrombosis has only rarely been reported following allogeneic transplants. We report three cases of cortical venous thrombosis following allografting for acute lymphoblastic leukaemia. Two patients received marrow from HLA-identical siblings and one from an unrelated donor. Two of the patients presented with grand mal seizures and one presented with a headache. No neurological abnormalities were found upon clinical examination and lumbar puncture was normal in all three cases. In two of the patients computed tomography (CT) of the brain was normal and in the third showed non-specific abnormalities. Magnetic resonance imaging (MRI) with MR angiography (MRA) demonstrated cerebral venous sinus thrombosis in all three patients. In conclusion, cerebral venous sinus thrombosis should be considered in the differential diagnosis when neurological symptoms occur following allogeneic bone marrow transplantation. We therefore advocate the use of MRA for unexplained neurological symptoms post-allograft since without it cerebral venous sinus thrombosis may easily be missed. Bone Marrow Transplantation (2000) 25, 791-795.

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Section: Anaesthesia; Obstetricmentioning

confidence: 99%

“…The functional activity of protein S corresponds, for the most part, to the free form [6]. Clinical manifestations of protein S deficiency include leg vein thrombosis, pulmonary embolism, superficial thrombophlebitis and thromboses in uncommon sites [7,8].Patients undergoing surgery are already at high risk of developing deep venous thrombosis and pulmonary embolism [9]. Normal pregnancy is also associated with hypercoagulable changes in the haemostatic system [ 101, and is one cause of acquired deficiency of protein S [I 1, 121.…”

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Caesarean section in a patient with protein S deficiency

Fan

Yeh²,

Tsay

1995

Anaesthesia

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SummaryProtein S is a nonenzymatic and vitamin K-dependent cofactor of activated protein C. Without protein S, the anticoagulant function of protein C is almost depleted and thrombotic events occur. We report a parturient with hereditary protein S deficiency in whom the risk of thromboembolism was further complicated by pregnancy and who required emergency Caesarean section for fetal distress. Key wordsComplications; protein S deficiency, thrombosis. Anaesthesia; obstetric.Protein S, discovered in 1977 [l], is a nonenzymatic and vitamin K dependent cofactor of activated protein C [2,3].Hereditary deficiency is an autosomal dominant disorder and is associated with familial thrombosis [4,5]. Protein S in plasma is in two forms: 40% is in the free form, the remainder is bound to a complement cofactor, the C4b-binding protein. The functional activity of protein S corresponds, for the most part, to the free form [6]. Clinical manifestations of protein S deficiency include leg vein thrombosis, pulmonary embolism, superficial thrombophlebitis and thromboses in uncommon sites [7,8].Patients undergoing surgery are already at high risk of developing deep venous thrombosis and pulmonary embolism [9]. Normal pregnancy is also associated with hypercoagulable changes in the haemostatic system [ 101, and is one cause of acquired deficiency of protein S [I 1, 121. There have been no reports of the anaesthetic management of a patient with protein S deficiency and none in which all the above risk factors were present. We report a patient with hereditary protein S deficiency who had an emergency Caesarean section and discuss the anaesthetic implications of the condition. Case historyA 30-year-old primipara (gestation 39 weeks, weight 75 kg) was admitted to our hospital because of premature rupture of the membranes. Four years previously her sister's pregnancy had been complicated by a left vertebral artery thrombosis which occurred one week after delivery. After investigation of the family for a possible thrombotic tendency (her parents had two sons and five daughters), all members except her mother and one brother were found to have protein S deficiency using immunological assays.Prenatal examination of protein S levels 2 months before this admission showed aggravation of the deficiency (total: 90%; free form: 33%; functional form: 31% of normal control; Table 1). During admission, laboratory data including platelet count and routine biochemistry were within the normal range. However, the amount and function of protein S was further decreased (total: 76%; free form: 30%; functional form: 16% of normal control; Table I). Subcutaneous heparin 5000 IU 8-hourly was prescribed by the haematologist to prevent thrombosis. Oxytocin was administered intravenously for induction of labour, but after 2 days, emergency Caesarean section was undertaken because of fetal distress and prolonged labour.At the pre-operative anaesthetic assessment, the prothrombin time and partial thromboplastin time 4 h previously showed 11.0 (control 11.9) s and 4...

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Cerebral sinus thrombosis in a patient with hereditary protein S deficiency: Case report and review of the literature

Cited by 31 publications

References 30 publications

Prothrombin Gene G ₂₀₂₁₀ →A Transition Is a Risk Factor for Cerebral Venous Thrombosis

Prothrombin Gene G ₂₀₂₁₀ →A Transition Is a Risk Factor for Cerebral Venous Thrombosis

MR angiographic diagnosis of cerebral venous sinus thrombosis following allogeneic bone marrow transplantation

Caesarean section in a patient with protein S deficiency

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Cerebral sinus thrombosis in a patient with hereditary protein S deficiency: Case report and review of the literature

Cited by 31 publications

References 30 publications

Prothrombin Gene G 20210 →A Transition Is a Risk Factor for Cerebral Venous Thrombosis

Prothrombin Gene G 20210 →A Transition Is a Risk Factor for Cerebral Venous Thrombosis

MR angiographic diagnosis of cerebral venous sinus thrombosis following allogeneic bone marrow transplantation

Caesarean section in a patient with protein S deficiency

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Prothrombin Gene G ₂₀₂₁₀ →A Transition Is a Risk Factor for Cerebral Venous Thrombosis

Prothrombin Gene G ₂₀₂₁₀ →A Transition Is a Risk Factor for Cerebral Venous Thrombosis