Frequency of thrombophilia-related genetic variations in patients with idiopathic pulmonary embolism in an urban emergency department

Lori Kruse, Alice Mitchell, Carlos A. Camargo, Jackeline Hernandez, Jeffrey Kline

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Background: The frequency of the thrombophilic genetic variants factor V Leiden (FVL) G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T in acutely symptomatic ambulatory patients with idiopathic pulmonary embolism (PE) has not been measured. Methods: This prospective case-control study included patients presenting to urban emergency departments (EDs) with chest pain or shortness of breath. Cases were classified as idiopathic PE (49 patients with PE, but without overt risk factors for thrombosis). Control groups included (a) patients with nonidiopathic PE (152 patients with PE and risk factors); (b) patients in whom PE was excluded (91 patients who had PE ruled out with a structured protocol, including follow-up); and (c) patients in whom PE was not suspected (193 patients without a workup for PE, who were free of PE on follow-up). Blood DNA extracts were analyzed by PCR and restriction fragment length polymorphism analysis for the FVL, prothrombin, and MTHFR sequence variations. Results: Either the FVL or prothrombin variant was found in 10% (95% confidence interval, 3%-22%) of patients with idiopathic PE compared with 13% (8%-20%) of nonidiopathic PE, 2% (5%-14%) of PE excluded, and 9% (5%-14%) of PE not suspected patients. Patients with idiopathic PE tended to have a higher frequency of homozygous MTHFR sequence variants, but mean (SD) plasma homocysteine concentrations were not increased [15.6 (5.4) μmol/L vs 12.8 (4.6) μmol/L for homozygous, and wild-type, respectively; P = 0.40]. Conclusions: The frequency of either the FVL or prothrombin sequence variant was not increased in idiopathic PE patients compared with nonidiopathic PE patients or patients who had PE excluded. These data suggest that genotyping to detect idiopathic PE would have limited clinical utility in the urban ED setting.

Original languageEnglish (US)
Pages (from-to)1026-1032
Number of pages7
JournalClinical Chemistry
Volume52
Issue number6
DOIs
StatePublished - Jun 2006
Externally publishedYes

Fingerprint

Thrombophilia
Prothrombin
Pulmonary Embolism
Methylenetetrahydrofolate Reductase (NADPH2)
Hospital Emergency Service
Homocysteine
Polymorphism
Blood
Plasmas
factor V Leiden
DNA

ASJC Scopus subject areas

  • Clinical Biochemistry

Cite this

Frequency of thrombophilia-related genetic variations in patients with idiopathic pulmonary embolism in an urban emergency department. / Kruse, Lori; Mitchell, Alice; Camargo, Carlos A.; Hernandez, Jackeline; Kline, Jeffrey.

In: Clinical Chemistry, Vol. 52, No. 6, 06.2006, p. 1026-1032.

Research output: Contribution to journalArticle

@article{062f12d429ee4fc8960405c4acb56a6b,
title = "Frequency of thrombophilia-related genetic variations in patients with idiopathic pulmonary embolism in an urban emergency department",
abstract = "Background: The frequency of the thrombophilic genetic variants factor V Leiden (FVL) G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T in acutely symptomatic ambulatory patients with idiopathic pulmonary embolism (PE) has not been measured. Methods: This prospective case-control study included patients presenting to urban emergency departments (EDs) with chest pain or shortness of breath. Cases were classified as idiopathic PE (49 patients with PE, but without overt risk factors for thrombosis). Control groups included (a) patients with nonidiopathic PE (152 patients with PE and risk factors); (b) patients in whom PE was excluded (91 patients who had PE ruled out with a structured protocol, including follow-up); and (c) patients in whom PE was not suspected (193 patients without a workup for PE, who were free of PE on follow-up). Blood DNA extracts were analyzed by PCR and restriction fragment length polymorphism analysis for the FVL, prothrombin, and MTHFR sequence variations. Results: Either the FVL or prothrombin variant was found in 10{\%} (95{\%} confidence interval, 3{\%}-22{\%}) of patients with idiopathic PE compared with 13{\%} (8{\%}-20{\%}) of nonidiopathic PE, 2{\%} (5{\%}-14{\%}) of PE excluded, and 9{\%} (5{\%}-14{\%}) of PE not suspected patients. Patients with idiopathic PE tended to have a higher frequency of homozygous MTHFR sequence variants, but mean (SD) plasma homocysteine concentrations were not increased [15.6 (5.4) μmol/L vs 12.8 (4.6) μmol/L for homozygous, and wild-type, respectively; P = 0.40]. Conclusions: The frequency of either the FVL or prothrombin sequence variant was not increased in idiopathic PE patients compared with nonidiopathic PE patients or patients who had PE excluded. These data suggest that genotyping to detect idiopathic PE would have limited clinical utility in the urban ED setting.",
author = "Lori Kruse and Alice Mitchell and Camargo, {Carlos A.} and Jackeline Hernandez and Jeffrey Kline",
year = "2006",
month = "6",
doi = "10.1373/clinchem.2005.061861",
language = "English (US)",
volume = "52",
pages = "1026--1032",
journal = "Clinical Chemistry",
issn = "0009-9147",
publisher = "American Association for Clinical Chemistry Inc.",
number = "6",

}

TY - JOUR

T1 - Frequency of thrombophilia-related genetic variations in patients with idiopathic pulmonary embolism in an urban emergency department

AU - Kruse, Lori

AU - Mitchell, Alice

AU - Camargo, Carlos A.

AU - Hernandez, Jackeline

AU - Kline, Jeffrey

PY - 2006/6

Y1 - 2006/6

N2 - Background: The frequency of the thrombophilic genetic variants factor V Leiden (FVL) G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T in acutely symptomatic ambulatory patients with idiopathic pulmonary embolism (PE) has not been measured. Methods: This prospective case-control study included patients presenting to urban emergency departments (EDs) with chest pain or shortness of breath. Cases were classified as idiopathic PE (49 patients with PE, but without overt risk factors for thrombosis). Control groups included (a) patients with nonidiopathic PE (152 patients with PE and risk factors); (b) patients in whom PE was excluded (91 patients who had PE ruled out with a structured protocol, including follow-up); and (c) patients in whom PE was not suspected (193 patients without a workup for PE, who were free of PE on follow-up). Blood DNA extracts were analyzed by PCR and restriction fragment length polymorphism analysis for the FVL, prothrombin, and MTHFR sequence variations. Results: Either the FVL or prothrombin variant was found in 10% (95% confidence interval, 3%-22%) of patients with idiopathic PE compared with 13% (8%-20%) of nonidiopathic PE, 2% (5%-14%) of PE excluded, and 9% (5%-14%) of PE not suspected patients. Patients with idiopathic PE tended to have a higher frequency of homozygous MTHFR sequence variants, but mean (SD) plasma homocysteine concentrations were not increased [15.6 (5.4) μmol/L vs 12.8 (4.6) μmol/L for homozygous, and wild-type, respectively; P = 0.40]. Conclusions: The frequency of either the FVL or prothrombin sequence variant was not increased in idiopathic PE patients compared with nonidiopathic PE patients or patients who had PE excluded. These data suggest that genotyping to detect idiopathic PE would have limited clinical utility in the urban ED setting.

AB - Background: The frequency of the thrombophilic genetic variants factor V Leiden (FVL) G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T in acutely symptomatic ambulatory patients with idiopathic pulmonary embolism (PE) has not been measured. Methods: This prospective case-control study included patients presenting to urban emergency departments (EDs) with chest pain or shortness of breath. Cases were classified as idiopathic PE (49 patients with PE, but without overt risk factors for thrombosis). Control groups included (a) patients with nonidiopathic PE (152 patients with PE and risk factors); (b) patients in whom PE was excluded (91 patients who had PE ruled out with a structured protocol, including follow-up); and (c) patients in whom PE was not suspected (193 patients without a workup for PE, who were free of PE on follow-up). Blood DNA extracts were analyzed by PCR and restriction fragment length polymorphism analysis for the FVL, prothrombin, and MTHFR sequence variations. Results: Either the FVL or prothrombin variant was found in 10% (95% confidence interval, 3%-22%) of patients with idiopathic PE compared with 13% (8%-20%) of nonidiopathic PE, 2% (5%-14%) of PE excluded, and 9% (5%-14%) of PE not suspected patients. Patients with idiopathic PE tended to have a higher frequency of homozygous MTHFR sequence variants, but mean (SD) plasma homocysteine concentrations were not increased [15.6 (5.4) μmol/L vs 12.8 (4.6) μmol/L for homozygous, and wild-type, respectively; P = 0.40]. Conclusions: The frequency of either the FVL or prothrombin sequence variant was not increased in idiopathic PE patients compared with nonidiopathic PE patients or patients who had PE excluded. These data suggest that genotyping to detect idiopathic PE would have limited clinical utility in the urban ED setting.

UR - http://www.scopus.com/inward/record.url?scp=33646920601&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33646920601&partnerID=8YFLogxK

U2 - 10.1373/clinchem.2005.061861

DO - 10.1373/clinchem.2005.061861

M3 - Article

C2 - 16574759

AN - SCOPUS:33646920601

VL - 52

SP - 1026

EP - 1032

JO - Clinical Chemistry

JF - Clinical Chemistry

SN - 0009-9147

IS - 6

ER -