Arterial and venous thrombosis associated to combined deficiency of protein C and antithrombin III

Sansores-García, Leticia; Majluf‐Cruz, Abraham

doi:10.1002/(sici)1096-8652(199802)57:2<182::aid-ajh20>3.0.co;2-d

Cited by 4 publications

(2 citation statements)

References 5 publications

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“…This postulate is supported by additional reports that characterize the involvement of other genes. For example, co-heterozygosity for heparin cofactor II ( SERPIND1 ) and factor V Leiden or protein C deficiency was observed in subjects who experienced juvenile thromboembolic episodes (Bernardi et al 1996), as well as in other families with thrombosis tested for these variants (Lane et al 1996; Sansores-Garcia and Majluf-Cruz 1998). Two sisters in one family study were found to be homozygous for a factor XII deficiency-associated mutation ( F12 ) and heterozygous for factor V Leiden; one sister exhibited multiple thrombotic events, whereas the other was asymptomatic (Girolami et al 2010) suggesting that there is significantly greater complexity underlying disease predisposition than just the presence of two or three variants.…”

Section: Discussionmentioning

confidence: 99%

Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders

et al. 2011

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Next-generation sequencing and genome-wide association studies represent powerful tools to identify genetic variants that confer disease risk within populations. On their own, however, they cannot provide insight into how these variants contribute to individual risk for diseases that exhibit complex inheritance, or alternatively confer health in a given individual. Even in the case of well-characterized variants that confer a significant disease risk, more healthy individuals carry the variant, with no apparent ill effect, than those who manifest disease. Access to low-cost genome sequence data promises to provide an unprecedentedly detailed view of the nature of the hereditary component of complex diseases, but requires the large-scale comparison of sequence data from individuals with and without disease to deliver a clinical calibration. The provision of informatics support remains problematic as there are currently no means to interpret the data generated. Here, we initiate this process, a prerequisite for such a study, by narrowing the focus from an entire genome to that of a single biological system. To this end, we examine the `Hemostaseome,' and more specifically focus on DNA sequence changes pertaining to those human genes known to impact upon hemostasis and thrombosis that can be analyzed coordinately, and on an individual basis, to interrogate how specific combinations of variants act to confer disease predisposition. As a first step, we delineate known members of the Hemostaseome and explore the nature of the genetic variants that may cause disease in individuals whose hemostatic balance has become shifted toward either a prothrombotic or anticoagulant phenotype.

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Section: Discussionmentioning

confidence: 99%

Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders

et al. 2011

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“…Our patient had multiple risk factors including prolonged immobilization, inherited AT deficiency, and protein C deficiency. There are some anecdotal reports of combined AT and protein C deficiency [ 9 10 ].…”

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confidence: 99%

Pulmonary embolism presenting with acute abdominal pain in a girl with stable ankle fracture and inherited antithrombin deficiency

et al. 2018

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Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report

et al. 2017

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Antithrombin and protein C are two crucial members in the anticoagulant system and play important roles in hemostasis. Mutations in SERPINC1 and PROC lead to deficiency or dysfunction of the two proteins, which could result in venous thromboembolism (VTE). Here, we report a Chinese 22-year-old young man who developed recurrent and serious VTE in cerebral veins, visceral veins, and deep veins of the lower extremity. Laboratory tests and direct sequencing of PROC and SERPINC1 were conducted for the patient and his family members. Coagulation tests revealed that the patient presented type I antithrombin deficiency combined with decreased protein C activity resulting from a small insertion mutation c.848_849insGATGT in SERPINC1 and a short deletion variant c.572_574delAGA in PROC. This combination of the two mutations was absent in 400 healthy subjects each from southern and northern China. Then, we summarized all the mutations of the SERPINC1 and PROC gene reported in the Chinese Han population. This study demonstrates that the combination of antithrombin deficiency and decreased protein C activity can result in severe VTE and that the coexistence of different genetic factors may increase the risk of VTE.

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Arterial and venous thrombosis associated to combined deficiency of protein C and antithrombin III

Cited by 4 publications

References 5 publications

Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders

Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders

Pulmonary embolism presenting with acute abdominal pain in a girl with stable ankle fracture and inherited antithrombin deficiency

Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report

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