Trombofilia in età pediatrica: chi testare?

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EMATOLOGIA

Valentina Talarico1, Paola Saracco2, Roberto Miniero1, Giuseppe Antonio Mazza3 Maria Concetta Galati4 e Giuseppe Raiola1

 

1Dipartimento Materno-Infantile, Azienda Ospedaliera “Pugliese-Ciaccio” di Catanzaro

2 Dipartimento Ematologia pediatrica, Città della salute e delle scienze di Torino

3  UO Cardiologia Pediatrica, Città della salute e delle scienze di Torino

UO Ematoncologia pediatrica, Azienda Ospedaliera “Pugliese-Ciaccio” di Catanzaro

 

Indirizzo per la corrispondenza:

Valentina Talarico

Dipartimento Materno-Infantile,

AO “Pugliese-Ciaccio” di Catanzaro

Tel 0961-883308

Mail: talaricovalentina@gmail.com

Bibliografia essenziale

  1. Ignjatovic V. 30 years of developmental haemostasis: what have we learnt and how are we applying this knowledge. Thromb Res. 2018;172:188-189.
  2. Margaglione M, Grandone E. La trombofilia in età pediatrica. Prospettive in Pediatria. 2017; 47:150-159.
  3. Rizzi M, Barnes C. A diagnostic approach to a child with thrombosis. In Sickkids Handbook of Pediatric Trombosis and Hemostasis V.S. Blanchette, V.R. Breakey, S. Revel-Vilk Eds. Basilea. Svizzera 2013.Pagg.124-40.
  4. Girolami A, Cosi E, Ferrari S et al. Prethrombotic, prothrombotic, thrombophilic states, hypercoagulable state, thrombophilia etc.: semantics should be respected even in medical papers. J Thromb Thrombolysis. 2017;43:390–393.
  5. Conti GO, Molinari AC, Signorelli SS. et al. Neonatal Systemic Thrombosis: An Updated Overview. Curr Vasc Pharmacol. 2018;16:499-509.
  6. Ichiyama M, Ohga S, Ochiai M et al. Age-specific onset and distribution of the natural anticoagulant deficiency in pediatric thromboembolism. Pediatric Researc.2016; 79:81-86.
  7. Ishola T, Kirk SE, Guffey D et al. Risk factors and co-morbidities in adolescent thromboembolism are different than those in younger children. Thrombosis Research 2016; 141, 178–182.
  8. Saracco P, Bagna R, Gentilomo C et al. Neonatal Working Group of Registro Italiano Trombosi Infantili (RITI). Clinical Data of Neonatal Systemic Thrombosis. J Pediatr. 2016;171:60-61.
  9. Giordano P, Grassi M, Saracco P et al. -The Paediatric Thrombosis Working Group of the RITI. Paediatric venous thromboembolism: a report from the Italian Registry of Thrombosis in Children (RITI). Blood Transfus 2018; 16: 363-70.
  10. Torres VM, Saddib VA. Systematic review: hereditary thrombophilia associated to pediatric strokes and cerebral palsy. J Pediatr (Rio J). 2015;91:22-29.
  11. Kenet G, Lutkhoff LK, Albisetti M et al. Impact of Thrombophilia on Risk of Arterial Ischemic Stroke or Cerebral Sinovenous Thrombosis in Neonates and Children A Systematic Review and Meta-Analysis of Observational Studies. 2010; 121:1838-47.
  12. deVeber G, Kirkham F, Shannon K et al. Recurrent stroke: the role of thrombophilia in a large international pediatric stroke population. Haematologica 2019;104:1676-168.
  13. Franchini M, Martinelli I, Mannucci P et al. Uncertain thrombophilia markers. Thromb Haemost 2016; 115: 25–30.
  14. Mannucci PM, Franchini M. Classic thrombophilic gene variants. Thromb Haemost 2015; 114: 885-889.
  15. Salvagno GL, Pavan C, Lippi G. Rare thrombophilic conditions Ann Transl Med. 2018 ;6:342 (1-10).
  16. Preston RJS, O’Sullivan JM, O’Donnel JS. Advances in understanding the molecular mechanisms of venous thrombosis. Br. J. Haemat 2019 10.1111/bjh.15872.
  17. Ferraù V, Ferro E, Barone C et al. Screening trombofilico: aspetti clinici e genetici Thrombophilia screening: clinical and genetic aspects. Rivista Italiana di Genetica e Immunologia Pediatrica.(RIGIP) Anno III numero 1 – gennaio 2010.
  18. Gavri Beker A, Lubetsky A, Barg AA et al. Pediatric venous thromboembolism – a cohort study in a tertiary center. 2019;158:187-191.
  19. Montagnana M, Lippi G, Danese E. An Overview of Thrombophilia and Associated Laboratory Testing. Methods Mol Biol. 2017;1646:113-135 .
  20. Manco-Johnson MJ, Grabowski EF, Hellgreen M et al. Thrombosis and Haemostasis. Laboratory Testing for Thrombophilia in Pediatric Patients. Thromb Haemost 2002; 88: 155-156.
  21. Chalmers E, Ganesen V, Liesner R et al. British Committee for Standards in Haematology. Guideline on the investigation, management and prevention of venous thrombosis in children. Br J Haematol. 2011;154:196-207.
  22. Kenet G, Limperger V, Shneyder M et al. Risk factors for symptomatic venous and arterial thromboembolism in newborns, children and adolescents – What did we learn within the last 20 years? Blood Cells, Molecules and Diseases 2017;67: 18–22.
  23. Yang JY, Chan AK. Pediatric Thrombophilia. Pediatr Clin North Am 2013; 60:1443–1462.
  24. Nowak-Göttl U, van Ommen H, Kenet G. Thrombophilia testing in children: What and when should be tested? Thrombosis Research. 2018; 164: 75–78.
  25. Raffini L. Thrombophilia in Children: Who to Test, How, When, and Why? Hematology Am Soc Hematol Educ Program. 2008:228-35.
  26. Rühle F, Stoll M. Advances in predicting venous thromboembolism risk in children. Br J Haematol.2018;180:654-665.
  27. van Ommen CH, Nowak-Göttl U. Inherited Thrombophilia in Pediatric Venous Thromboembolic Disease: Why and Who to Test. Front Pediatr. 2017;145:1-6.
  28. Ruhle F, Stol M. Advances in predicting venous thromboembolism risk in children. J. Haemat. 2018, 180, 654–665.
  29. Colucci G, Tsakiris DA. Thrombophilia Screening: Universal, Selected, or Neither? Clin Appl Thromb Hemost. 2017;23:893-899.
  30. Frieser MJ, Wilson S, Vrieze S. Behavioral impact of return of genetic test results for complex disease: Systematic review and meta-analysis. Health Psychol. 2018; 37:1134-1144.
  31. Tuckuviene R, Risom Kristensen S, Helgestad, Luther Christensen A et al. Predictive value of pediatric thrombosis diagnoses in the Danish National Patient Registry Clin Epidemiol. 2010; 2: 107–122.
  32. Hedegaard SS, Klein AC, Hvas AM. The significance of thrombophilia in paediatric thromboembolism. Scand J Clin Lab Invest 2018; 78:551–555.
  33. Boccia S  e  GENISAP    La  genomica  in  Sanità  Pubblica.  Sintesi delle evidenze e delle conoscenze disponibili sull’utilizzo della genomica ai   fini   della prevenzione. http://istituti.unicatt.it/igiene_1830.htm.
  34. Frieser MJ, Wilson S, Vrieze S. Behavioral impact of return of genetic test results for complex disease: Systematic review and meta-analysis. Health Psychol. 2018; 37:1134-1144.

 

 

 

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