BACKGROUND The hereditary antithrombin(AT)deficiency caused by SERPINC1 gene mutation is an autosomal dominant thrombotic disorder.An increasing number of studies have shown that mutations in the SERPINC1 rs2227589 po...BACKGROUND The hereditary antithrombin(AT)deficiency caused by SERPINC1 gene mutation is an autosomal dominant thrombotic disorder.An increasing number of studies have shown that mutations in the SERPINC1 rs2227589 polymorphic site are correlated with a risk of venous thromboembolism(VTE)at common sites,such as lower extremity deep venous thrombosis and pulmonary thromboembolism.Currently,there are no reports of cerebral venous sinus thrombosis(CVST),a VTE site with a low incidence rate and rs2227589 polymorphism.CASE SUMMARY Here,we report a Chinese CVST case with a mutation of the SERPINC1 rs2227589 polymorphic site,which did not cause significant AT deficiency.In a 50-year-old male patient presenting with multiple cerebral venous sinus thromboses no predisposing factors were detected,although a relative had a history of lower extremity deep venous thrombosis.We performed sequencing of the SERPINC1 gene for the patient and his daughter,which revealed the same heterozygous mutation at the rs2227589 polymorphic site:c.41+141G>A.CONCLUSION The results showed that more studies should be conducted to assess the correlation between rs2227589 polymorphism and CVST.展开更多
Background: Cirrhotic patients have higher rates of hypercoagulable disorders. We hypothesized that orthotopic liver transplant (OLT) recipients with pre-operative portal vein thrombosis (PVT) have more post-operative...Background: Cirrhotic patients have higher rates of hypercoagulable disorders. We hypothesized that orthotopic liver transplant (OLT) recipients with pre-operative portal vein thrombosis (PVT) have more post-operative thrombotic events than those without PVT. Aims: To compare rates of post-op thrombotic events and outcomes between those with and without pre-op PVT. Methods: All OLT recipients between 1/02-4/09 were retrospectively reviewed. Outcome measures included survival, deep venous thrombosis, pulmonary embolism, hepatic artery thrombosis, and recurrent PVT. Minimum follow up was 6 months. Results: In 363 OLTs performed, mean recipient age was 53.1 yrs (±9.2);268 patients were male. Mean MELD at transplant was 22.1 (±6.2). The prevalence of pre-op PVT was 11.2% (41/350). There was no difference in the % of post-op thrombotic events between those with and without PVT (p = 0.77). MELD, recipient and donor age, and gender were similar in both groups. Mean survival in those with pre-op PVT was 85.2 months vs. 78.7 in those without PVT (p = 0.19). Conclusions: The rate of post-op thrombotic events was equivalent in OLT recipients with and without pre-op PVT. The presence of PVT did not adversely impact patient survival and should not be a contraindication to OLT.展开更多
基金Supported by the Affiliated Hospital of Guangdong Medical University,No.LCYJ2018C009.
文摘BACKGROUND The hereditary antithrombin(AT)deficiency caused by SERPINC1 gene mutation is an autosomal dominant thrombotic disorder.An increasing number of studies have shown that mutations in the SERPINC1 rs2227589 polymorphic site are correlated with a risk of venous thromboembolism(VTE)at common sites,such as lower extremity deep venous thrombosis and pulmonary thromboembolism.Currently,there are no reports of cerebral venous sinus thrombosis(CVST),a VTE site with a low incidence rate and rs2227589 polymorphism.CASE SUMMARY Here,we report a Chinese CVST case with a mutation of the SERPINC1 rs2227589 polymorphic site,which did not cause significant AT deficiency.In a 50-year-old male patient presenting with multiple cerebral venous sinus thromboses no predisposing factors were detected,although a relative had a history of lower extremity deep venous thrombosis.We performed sequencing of the SERPINC1 gene for the patient and his daughter,which revealed the same heterozygous mutation at the rs2227589 polymorphic site:c.41+141G>A.CONCLUSION The results showed that more studies should be conducted to assess the correlation between rs2227589 polymorphism and CVST.
文摘Background: Cirrhotic patients have higher rates of hypercoagulable disorders. We hypothesized that orthotopic liver transplant (OLT) recipients with pre-operative portal vein thrombosis (PVT) have more post-operative thrombotic events than those without PVT. Aims: To compare rates of post-op thrombotic events and outcomes between those with and without pre-op PVT. Methods: All OLT recipients between 1/02-4/09 were retrospectively reviewed. Outcome measures included survival, deep venous thrombosis, pulmonary embolism, hepatic artery thrombosis, and recurrent PVT. Minimum follow up was 6 months. Results: In 363 OLTs performed, mean recipient age was 53.1 yrs (±9.2);268 patients were male. Mean MELD at transplant was 22.1 (±6.2). The prevalence of pre-op PVT was 11.2% (41/350). There was no difference in the % of post-op thrombotic events between those with and without PVT (p = 0.77). MELD, recipient and donor age, and gender were similar in both groups. Mean survival in those with pre-op PVT was 85.2 months vs. 78.7 in those without PVT (p = 0.19). Conclusions: The rate of post-op thrombotic events was equivalent in OLT recipients with and without pre-op PVT. The presence of PVT did not adversely impact patient survival and should not be a contraindication to OLT.
