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Clarification of th...
Clarification of the risk for venous thrombosis associated with hereditary protein S deficiency by investigation of a large kindred with a characterized gene defect
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- Simmonds, R E (author)
- Charing Cross Hospital
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- Ireland, H (author)
- Charing Cross Hospital
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- Lane, D A (author)
- Charing Cross Hospital
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- Zöller, B (author)
- Lund University,Lunds universitet,Internmedicin - epidemiologi,Forskargrupper vid Lunds universitet,Internal Medicine - Epidemiology,Lund University Research Groups
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García de Frutos, P (author)
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- Dahlbäck, B (author)
- Lund University,Lunds universitet,Klinisk kemi, Malmö,Forskargrupper vid Lunds universitet,Clinical Chemistry, Malmö,Lund University Research Groups
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(creator_code:org_t)
- American College of Physicians, 1998
- 1998
- English 7 s.
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In: Annals of Internal Medicine. - : American College of Physicians. - 0003-4819. ; 128:1, s. 8-14
- Related links:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.7...
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Abstract
Subject headings
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- BACKGROUND: Protein S is an important regulatory protein of the coagulation cascade. The risk for venous thrombosis associated with protein S deficiency has been uncertain because all previous risk estimates used phenotypic evaluation alone, which can be ambiguous.OBJECTIVE: To quantitate the risk for thrombosis associated with a characterized protein S gene mutation that causes a Gly295-->Val substitution and protein S deficiency.DESIGN: Retrospective study of a single extended family.SETTING: University hospital referral center.PARTICIPANTS: A 122-member protein S-deficient family, in which 44 members had a recently characterized gene defect.MEASUREMENTS: Comprehensive history of thrombosis, history of exposure to acquired risk factors for thrombosis, levels of total and free protein S antigen, and genotype for the mutation causing the Gly295-->Val substitution.RESULTS: Kaplan-Meier analysis of thrombosis-free survival showed that the probability of remaining free of thrombosis at 30 years of age is 0.5 (95% CI, 0.33 to 0.66) for carriers of the Gly295-->Val mutation compared with 0.97 (CI, 0.93 to 1.0) for normal family members (P < 0.001). In a multivariate Cox regression model that included smoking and obesity, the mutation was a strong independent risk factor for thrombosis (hazard ratio, 11.5 [CI, 4.33 to 30.6]; P < 0.001). For free (but not total) protein S antigen levels, the distributions of persons with and persons without the mutation did not overlap.CONCLUSIONS: Protein S deficiency, as defined by the presence of a causative gene mutation or a reduced level of free protein S antigen, is a strong independent risk factor for venous thrombosis in a clinical affected family.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Kardiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cardiac and Cardiovascular Systems (hsv//eng)
Keyword
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Chi-Square Distribution
- Child
- Disease-Free Survival
- Female
- Heterozygote
- Humans
- Male
- Middle Aged
- Mutation
- Phenotype
- Protein S Deficiency
- Regression Analysis
- Risk Factors
- Thrombophlebitis
- Journal Article
- Research Support, Non-U.S. Gov't
Publication and Content Type
- art (subject category)
- ref (subject category)
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