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September 27, 2004Archives of Internal Medicine

Prothrombin 20210A Mutation

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Why the study?

Does the prothrombin 20210A mutation increase the risk of venous and arterial thrombotic events or pregnancy-related complications in first-degree relatives of affected patients?

Population

407 first-degree relatives of consecutive patients with the prothrombin 20210A mutation and a history of…

Comparison

Prothrombin 20210A mutation carrier status. vs Normal genotype (198 noncarriers).

Design

Cohort

Authors

IBIvan BankSanquinELEduard J. LibourelSint Franciscus Gasthuis
Saskia Middeldorp
Saskia MiddeldorpVascular Medicine

Discussion

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Overview

Does not support routine screening of relatives; leaves open whether testing improves familial risk stratification.

Structured PICO

Does the prothrombin 20210A mutation increase the risk of venous and arterial thrombotic events or pregnancy-related complications in first-degree relatives of affected patients?

P
Population
407 first-degree relatives of consecutive patients with the prothrombin 20210A mutation and a history of venous thromboembolism (VTE) or premature atherosclerosis.
I
Intervention
Prothrombin 20210A mutation carrier status (204 heterozygous, 5 homozygous).
C
Comparator
Normal genotype (198 noncarriers).
O
Outcome
Incidences of first venous and arterial thrombotic events and pregnancy-related complications.hard clinical

The prothrombin 20210A mutation acts as a mild risk factor for VTE within families of carriers and may increase the risk of myocardial infarction, but does not significantly impact other arterial thrombotic diseases or pregnancy complications.

Cite This Study

Bank et al. (2004) studied this question.

synapsesocial.com/papers/6a7fd81744653b9d99152f4fhttps://doi.org/10.1001/archinte.164.17.1932
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis1996 · 3,130 citations
  2. 2No Evidence of Association Between Prothrombotic Gene Polymorphisms and the Development of Acute Myocardial Infarction at a Young Age2003 · 194 citations
  3. 3A prospective study of the incidence of deep‐vein thrombosis within a defined urban population1992 · 787 citations
  4. 4Heart disease, cancer, and stroke mortality trends and their interrelations. An international perspective.1994 · 91 citations
  5. 5Interaction Between the G20210A Mutation of the Prothrombin Gene and Oral Contraceptive Use in Deep Vein Thrombosis1999 · 176 citations