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

Italian Society of Clinical Pathology and Laboratory Medicine (SIPMeL) Guidelines for laboratory screening DNA testing for thrombophilia

  • Raccomandazioni e Linee Guida
  • Published:
La Rivista Italiana della Medicina di Laboratorio - Italian Journal of Laboratory Medicine

Riassunto

Con il termine trombofilia si identifica una condizione clinica che determina un aumento del rischio di malattia tromboembolica venosa e di alcune patologie della gravidanza. Questa condizione può essere associata ad alterazioni ematologiche, sia congenite sia acquisite, che possono essere studiate con dosaggi quantitativi o con tecniche genetiche di biologia molecolare. L’utilità di eseguire indagini di laboratorio per identificare una condizione ereditaria di trombofilia è a tutt’oggi argomento di discussione. Da parte di diverse Società scientifiche e Gruppi di Lavoro sono state prodotte Linee guida nelle quali si sostiene che gli unici esami validati per uno studio di screening di primo livello per la trombofilia ereditaria sono: il dosaggio di antitrombina, proteina C e proteina S e la ricerca delle mutazioni per fattore V di Leiden e protrombina G20210A. Ciò nonostante, a livello di indagini di screening, viene spesso richiesto o proposto lo studio di molti altri polimorfismi con incerta utilità clinica, notevole aumento dei costi e produzione di ansie e timori ingiustificati nella popolazione esaminata. Il Gruppo di Studio di Coagulazione della SIPMeL ha voluto eseguire una ricognizione della letteratura medica per aggiornare la precedente edizione di Linee guida SIMeL sullo screening della trombofilia (2004) e in particolare per ampliare le raccomandazioni in merito alla ricerca dei polimorfismi nello studio della diagnostica della trombofilia ereditaria.

Summary

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.

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Author information

Authors and Affiliations

  1. UOC di Patologia Clinica e Ambulatorio per lo studio della Trombofilia, Presidio Ospedaliero S. Filippo Neri, ASL Roma 1, Roma, Italia

    Michele Bertini

  2. UO Patologia Clinica, Presidio Ospedaliero San Paolo, ASL Bari, Bari, Italia

    Pierfrancesco Agostini

  3. UOC Biochimica Clinica, Ospedale Sandro Pertini, ASL Roma 2, Roma, Italia

    Francesco Bondanini

  4. Laboratorio Malattie Emorragiche e Trombotiche, Laboratorio Analisi, Azienda Ospedaliera SS Antonio e Biagio e C. Arrigo, Alessandria, Italia

    Maria Matilde Ciriello & Marta Sofia Angela Demicheli

  5. Patologia Clinica Oncologica, IRCCS Centro di Riferimento Oncologico, Aviano, PN, Italia

    Maria Rita Cozzi & Agostino Steffan

  6. UOC Laboratorio Analisi, IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italia

    Giovina Di Felice

  7. UO Angiologia e Malattie della Coagulazione, Azienda Ospedaliera di Bologna, Policlinico S. Orsola Malpighi, Bologna, Italia

    Cristina Legnani

  8. Centro Emostasi, Laboratorio, Spedali Civili, Brescia, Italia

    Giuliana Martini

  9. Centro Emofilia e Trombosi Angelo Bianchi Bonomi, e Laboratorio Centrale Analisi Chimico Cliniche e Microbiologia, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milano, Italia

    Cristina Novembrino

  10. Centro Emostasi e Trombosi, Dipartimento di Medicina di Laboratorio, ASST Cremona, Cremona, Italia

    Oriana Paoletti & Sophie Testa

  11. Servizio di Medicina di Laboratorio, Istituto Ospedaliero, Fondazione Poliambulanza, Brescia, Italia

    Simona Pedrini

  12. UO Laboratorio Analisi Chimico-Cliniche, Ambulatorio Antitrombosi, Azienda Ospedaliera Universitaria Pisana, Pisa, Italia

    Lucia Ruocco

  13. Dipartimento Biotecnologie Mediche, Università degli Studi di Siena, Siena, Italia

    Lucia Terzuoli

  14. Laboratorio Patologia Clinica, Azienda Ospedaliera Universitaria Senese, Siena, Italia

    Lucia Terzuoli

Authors
  1. Michele Bertini
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  2. Pierfrancesco Agostini
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  3. Francesco Bondanini
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  4. Maria Matilde Ciriello
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  5. Maria Rita Cozzi
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  6. Marta Sofia Angela Demicheli
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  7. Giovina Di Felice
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  8. Cristina Legnani
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  9. Giuliana Martini
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  10. Cristina Novembrino
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  11. Oriana Paoletti
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  12. Simona Pedrini
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  13. Lucia Ruocco
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  14. Agostino Steffan
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  15. Lucia Terzuoli
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  16. Sophie Testa
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Correspondence to Michele Bertini.

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Per il Gruppo di Studio in Coagulazione della Società Italiana di Patologia Clinica e di Medicina di Laboratorio (GdS-COAG SIPMeL).

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Bertini, M., Agostini, P., Bondanini, F. et al. Linee guida SIPMeL per la ricerca dei polimorfismi nella diagnostica di screening della trombofilia. Riv Ital Med Lab 13, 89–95 (2017). https://doi.org/10.1007/s13631-017-0148-8

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