PMID- 24168815 OWN - NLM STAT- MEDLINE DCOM- 20140909 LR - 20131122 IS - 1879-2472 (Electronic) IS - 0049-3848 (Linking) VI - 132 IP - 6 DP - 2013 TI - Evaluation of the prevalence of severe hyperhomocysteinemia in adult patients with thrombosis who underwent screening for thrombophilia. PG - 681-4 LID - S0049-3848(13)00458-1 [pii] LID - 10.1016/j.thromres.2013.09.038 [doi] AB - INTRODUCTION: Treatment with B-vitamins and betaine reduces the high risk of thrombosis in patients with homocystinuria, a metabolic syndrome that is characterized by severe hyperhomocysteinemia (HHcy). In contrast, there is no clear demonstration that B-vitamins reduce the risk of thrombosis in patients with mild HHcy: for this reason, many question the clinical utility of measuring total Hcy (tHcy) in patients with thrombosis. However, thrombosis may be the first clinical manifestation of homocystinuria in patients reaching adulthood without signs and symptoms of the syndrome. AIM: 1) to measure the prevalence of severe, previously undiagnosed, HHcy among patients with thrombosis 2) to profile these patients on the basis of their characteristics. METHODS: Six Italian Thrombosis Centers completed a first questionnaire, reporting tHcy levels in patients with thrombosis who underwent thrombophilia screening, and a second questionnaire, reporting the characteristics of patients with severe HHcy (tHcy>100mumol/L). RESULTS: Of 19,678 cross-sectionally collected patients with thrombosis who underwent thrombophilia screening in the last 12.5years (median value, range 6-17), 38 had severe HHcy (0.2%). Their median age at diagnosis was 47years (range 19-83) and the median level of tHcy was 130mumol/L (range 101-262). Venous thromboembolism (71%) was more frequent than arterial thromboembolism (26%); recurrent thrombosis occurred in 42% of cases. CONCLUSIONS: Measurement of tHcy in adult patients with thrombosis may reveal the presence of severe HHcy. Since treatment of patients with severe HHcy decreases the risk of thrombosis, measurement of tHcy in patients with thrombosis may prove clinically useful. CI - (c) 2013. FAU - Lussana, Federico AU - Lussana F AD - Medicina III, Azienda Ospedaliera San Paolo, Dipartimento di Scienze della Salute, Universita degli Studi di Milano, Milano, Italy. Electronic address: federico.lussana@ao-sanpaolo.it. FAU - Betti, Silvia AU - Betti S FAU - D'Angelo, Armando AU - D'Angelo A FAU - De Stefano, Valerio AU - De Stefano V FAU - Fedi, Sandra AU - Fedi S FAU - Ferrazzi, Paola AU - Ferrazzi P FAU - Legnani, Cristina AU - Legnani C FAU - Marcucci, Rossella AU - Marcucci R FAU - Palareti, Gualtiero AU - Palareti G FAU - Rota, Lidia L AU - Rota LL FAU - Sampietro, Francesca AU - Sampietro F FAU - Squizzato, Alessandro AU - Squizzato A FAU - Prisco, Domenico AU - Prisco D FAU - Cattaneo, Marco AU - Cattaneo M LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20131016 PL - United States TA - Thromb Res JT - Thrombosis research JID - 0326377 RN - Homocysteinemia SB - IM MH - Adult MH - Aged MH - Aged, 80 and over MH - Cross-Sectional Studies MH - Female MH - Homocystinuria/blood/*epidemiology MH - Humans MH - Hyperhomocysteinemia/blood/*epidemiology MH - Italy/epidemiology MH - Male MH - Mass Screening MH - Middle Aged MH - Prevalence MH - Thrombophilia/blood/diagnosis/*epidemiology MH - Thrombosis/blood/*epidemiology MH - Young Adult OTO - NOTNLM OT - CBS OT - CI OT - Confidence Intervals OT - HHCy OT - Hcy OT - Homocysteine OT - Homocystinuria OT - Hyperhomocysteinemia OT - MTHFR OT - Thrombophilia OT - Thrombosis OT - cystathionine beta-synthase OT - homocysteine OT - hyperhomocysteine OT - methylene tethrahydrofolate reductase OT - tHcy OT - total homocysteine EDAT- 2013/10/31 06:00 MHDA- 2014/09/10 06:00 CRDT- 2013/10/31 06:00 PHST- 2013/07/10 00:00 [received] PHST- 2013/09/26 00:00 [revised] PHST- 2013/09/30 00:00 [accepted] PHST- 2013/10/31 06:00 [entrez] PHST- 2013/10/31 06:00 [pubmed] PHST- 2014/09/10 06:00 [medline] AID - S0049-3848(13)00458-1 [pii] AID - 10.1016/j.thromres.2013.09.038 [doi] PST - ppublish SO - Thromb Res. 2013;132(6):681-4. doi: 10.1016/j.thromres.2013.09.038. Epub 2013 Oct 16.