HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text Full Text (PDF) All Versions of this Article: clinchem.2005.061861v1 52/6/1026    most recent Submit an electronic Letter to the Editor about this paper Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via ISI Web of Science (1) Citing Articles via Google Scholar Google Scholar Articles by Kruse, L. Articles by Kline, J. A. Search for Related Content PubMed PubMed Citation Articles by Kruse, L. Articles by Kline, J. A. Related Collections Molecular Diagnostics and Genetics Evidence Based Laboratory Medicine and Test Utilization Hemostasis and Thrombosis

Frequency of Thrombophilia-Related Genetic Variations in Patients with Idiopathic Pulmonary Embolism in an Urban Emergency Department

¹ Department of Emergency Medicine, James G. Cannon Research Center, Carolinas Medical Center, Charlotte, NC.
² Department of Emergency Medicine, Massachusetts General Hospital, Boston, MA.

^aAddress correspondence to this author at: Department of Emergency Medicine, Medical Education Building, 3rd Floor, 1000 Blythe Blvd., Carolinas Medical Center, Charlotte, NC 28203. Fax 704-355-7047; e-mail Jeff.Kline{at}carolinashealthcare.org.

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.

The following articles in journals at HighWire Press have cited this article:

				B. G. Stevinson, J. Hernandez-Nino, G. Rose, and J. A. Kline Echocardiographic and functional cardiopulmonary problems 6 months after first-time pulmonary embolism in previously healthy patients Eur. Heart J., October 2, 2007; 28(20): 2517 - 2524. [Abstract] [Full Text] [PDF]