Risk of Venous Thromboembolism and Clinical Manifestations in Carriers of Antithrombin, Protein C, Protein S Deficiency, or Activated Protein C Resistance

Bucciarelli, Paolo; Rosendaal, Frits R.; Tripodi, Armando; Mannucci, Pier Mannuccio; Stefano, V. De; Palareti, Gualtiero; Finazzi, Guido; Baudo, F.; Quintavalla, Roberto

doi:10.1161/01.atv.19.4.1026

Cited by 155 publications

(126 citation statements)

References 37 publications

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“…However, according to a recent study, family history is important in both provoked and unprovoked VTE [6]. This is in agreement with familial studies of defined genetic defects, in which approximately 50% of cases involving a first thrombotic event are unprovoked [35][36][37]. Acquired risk factors are usually not taken into account when considering the overall importance of a family history of VTE [6,41,42], although familial risks have been estimated in unprovoked VTE cases by Couturaud et al [45].…”

Section: Familial History and Unusual Forms Of Vtementioning

confidence: 61%

Familial risks of unusual forms of venous thrombosis: a nationwide epidemiological study in Sweden

Zöller

Sundquist

et al. 2010

Journal of Internal Medicine

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Zöller B, Li X, Sundquist J, Sundquist K. (Center for Primary Health Care Research, Lund University, Malmö, Sweden; Stanford Prevention Research Center, Stanford University School of Medicine, Stanford, CA, USA). Familial risks of unusual forms of venous thrombosis: a nationwide epidemiological study in Sweden. J Intern Med 2011; 270: 158–165. Abstract. Objective. This is the first nationwide study to determine familial risks of unusual forms of venous thrombosis amongst offspring of affected parents and amongst siblings. Design and settings. The Swedish Multigeneration Register of 0‐ to 75‐year‐old subjects was linked to the Hospital Discharge Register for the period 1987–2007. Standardized incidence ratios (SIRs) were calculated for individuals whose relatives were hospitalized for venous thromboembolism (VTE), as determined by the International Classification of Diseases, compared to those whose relatives were not affected by VTE. Results. The total number of hospitalized patients with VTE was 45 362, of which 1824 (4.0%) were affected by a rare thrombotic condition. The familial SIRs in cases with a history of VTE in parents or siblings were significantly increased for migrating thrombophlebitis (1.81; 95% confidence interval (CI) 1.40–2.31), portal vein thrombosis (2.35; 95% CI 1.77–3.06), vena cava thrombosis (1.96; 95% CI 1.42–2.64) and cerebral venous thrombosis (1.74; 95% CI 1.30–2.28). Budd–Chiari syndrome (SIR, 0.92; 95% CI 0.24–2.38) and renal vein thrombosis (SIR, 1.72; 95% CI 0.62–3.77) were not significantly associated with parental or sibling history of VTE; however, these two conditions were very rare, and therefore, we cannot draw any definite conclusions from this finding. Conclusions. Family history is an important risk factor for most unusual forms of VTE. Moreover, even the paraneoplastic phenomenon, migrating thrombophlebitis (Trousseau’s syndrome), is associated with a family history of VTE. Thus, our data suggest that most rare forms of VTE have a familial background.

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Section: Familial History and Unusual Forms Of Vtementioning

confidence: 61%

Familial risks of unusual forms of venous thrombosis: a nationwide epidemiological study in Sweden

Zöller

Sundquist

et al. 2010

Journal of Internal Medicine

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“…Deficiency of AT, PC and/or PS has been consistently linked with venous thromboembolism (VTE) [7]. The large cohort studies have demonstrated increased risk of VTE in asymptomatic individuals with the deficiency of AT, PC and/or PS and positive family history for VTE episodes [7,8].…”

mentioning

confidence: 99%

Determinants of Elevated Levels of Natural Anticoagulants in Healthy Subjects

Kościelniak¹,

Wypasek²,

Undas³

2015

Adv Clin Exp Med

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Background. The levels of protein C (PC), free protein S (PS) and antithrombin (AT) are evaluated during thrombophilia screening to exclude their deficiencies. Objectives. The aim of this study was to investigate factors which determine the elevated levels of natural plasma anticoagulants in healthy individuals. Material and Methods. The PC activity and antigen, free PS antigen and AT activity together with hematological, biochemical, genetic and immunological laboratory tests were assessed in 130 healthy adults (63 males) aged 20-60 (median 41) years. Individuals with personal or family history of cardiovascular diseases and venous thromboembolism were ineligible. Results. The functionally active PC measured by chromogenic assay (values above 140%) was observed in 14 (11%) of subjects, while the PC antigen determined using the enzyme-linked immunosorbent assay (ELISA) was elevated in 5 (4%) of these patients. Free PS measured by immunoturbidimetry and ELISA was increased in 9 (7%) subjects (values above 139% in men and 114% for women) and in 6 (5%) patients (values above 130% in men and 111% for women), respectively. The AT activity above 118% was found in 5 (4%) subjects measured using chromogenic assay. None of the individuals had any deficiency of natural anticoagulants. Increased C-reactive protein (CRP) > 3.0 mg/L was associated with elevated PC activity (odd ratio [OR]: 11.14, 95% confidence interval [CI] 1.67-74.23). Increased free PS assessed by immunoturbidimetric assay and PC activity were associated with hypercholesterolemia (OR: 3.57, 95% CI: 1. respectively). Body mass index ≥ 25 kg/m 2 was independently associated with elevated PC activity (OR: 3.42, 95% CI: 1.01-11.52). No risk factors for elevated AT activity were identified. Conclusions. Apart from hypercholesterolemia and overweight, increased serum CRP is associated with elevated PC activity in healthy adults. We confirmed that there are differences in the proportions of subjects with elevated PC and PS depending on the assay used (Adv Clin Exp Med 2015, 24, 5, 791-800).

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“…The present patient and his father had suffered repeated and severe thromboembolic events. Furthermore, our patient' s thrombotic onset occurred when he was only 13, while the risk of venous thrombosis in association with protein C or S deficiency increases with age after age 20 (21,22). Combined deficiency of proteins C and S may increase not only the risk of recurrent thromboembolism but also the manifestation of early vascular incidents.…”

Section: Case Reportmentioning

confidence: 70%

Combined Protein C and Protein S Deficiency in a Family with Repetitive Thromboembolism and Segregated Gene Mutations

et al. 2003

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A young man with repetitive deep venous thrombosis of the legs and the inferior vena cava, and his family were eventually diagnosed by means of molecular genetic analysis as having both hereditary protein C and protein S deficiency. There have been a few reports of families with combined protein C and protein S deficiency and only one report of such a family characterized at the DNAlevel. This was the first reported family in Japan with combined deficiency of protein C and protein S accompanied by segregation of gene lesions. (Internal Medicine 42: 268-272, 2003)

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Risk of Venous Thromboembolism and Clinical Manifestations in Carriers of Antithrombin, Protein C, Protein S Deficiency, or Activated Protein C Resistance

Cited by 155 publications

References 37 publications

Familial risks of unusual forms of venous thrombosis: a nationwide epidemiological study in Sweden

Familial risks of unusual forms of venous thrombosis: a nationwide epidemiological study in Sweden

Determinants of Elevated Levels of Natural Anticoagulants in Healthy Subjects

Combined Protein C and Protein S Deficiency in a Family with Repetitive Thromboembolism and Segregated Gene Mutations

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