Linee guida SIPMeL per la ricerca dei polimorfismi nella diagnostica di screening della trombofilia

Translated title of the contribution: Italian Society of Clinical Pathology and Laboratory Medicine (SIPMeL) Guidelines for laboratory screening DNA testing for thrombophilia

Michele Bertini, Pierfrancesco Agostini, Francesco Bondanini, Maria Matilde Ciriello, Maria Rita Cozzi, Marta Sofia Angela Demicheli, Giovina Di Felice, Cristina Legnani, Giuliana Martini, Cristina Novembrino, Oriana Paoletti, Simona Pedrini, Lucia Ruocco, Agostino Steffan, Lucia Terzuoli, Sophie Testa

Research output: Contribution to journalArticlepeer-review

Abstract

The term thrombophilia refers to an abnormality of blood coagulation leading to an increased risk of venous thromboembolism and obstetric complications. It may be associated with inherited or acquired risk factors that can be measured in plasma or DNA testing. The utility of laboratory investigation for inherited thrombophilia has been largely debated. Several Guidelines from Scientific Societies and Working Groups are produced in which only deficencies of antithrombin, protein C, protein S and mutations of Factor V Leiden and prothrombin G20210A are established as validated biomarkers at the first-level laboratory screening test for inherited thrombophilia. Nevertheless many others polymorphisms are often proposed as markers to be investigated in a screening set with doubtful clinical benefits, increase of related costs and production of anxiety and fear in the examined people. The Study Group on Coagulation of the Italian Society of Clinical Pathology and Laboratory Medicine (SIPMeL) reviewed the medical literature to update the previous edition of SIMeL (Italian Society of Laboratory Medicine) Guidelines for the screening of thrombophilia (2004) and to expand the recommendations about the investigation of the related polymorphisms.

Translated title of the contributionItalian Society of Clinical Pathology and Laboratory Medicine (SIPMeL) Guidelines for laboratory screening DNA testing for thrombophilia
Original languageItalian
Pages (from-to)89-95
Number of pages7
JournalRivista Italiana della Medicina di Laboratorio
Volume13
Issue number2
DOIs
Publication statusPublished - Jun 1 2017

ASJC Scopus subject areas

  • Medical Laboratory Technology
  • Biochemistry, medical

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