title: Evaluation of the prevalence of severe hyperhomocysteinemia in adult patients with thrombosis who underwent screening for thrombophilia.
abstract: BACKGROUND
  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.
  
  
  OBJECTIVE
  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>100μmol/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 130μmol/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.
authors.affiliation: Medicina III, Azienda Ospedaliera San Paolo, Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milano, Italy. Electronic address: federico.lussana@ao-sanpaolo.it.
authors.forename: Federico
authors.initials: F
authors.lastname: Lussana
authors.forename: Silvia
authors.initials: S
authors.lastname: Betti
authors.forename: Armando
authors.initials: A
authors.lastname: D'Angelo
authors.forename: Valerio
authors.initials: V
authors.lastname: De Stefano
authors.forename: Sandra
authors.initials: S
authors.lastname: Fedi
authors.forename: Paola
authors.initials: P
authors.lastname: Ferrazzi
authors.forename: Cristina
authors.initials: C
authors.lastname: Legnani
authors.forename: Rossella
authors.initials: R
authors.lastname: Marcucci
authors.forename: Gualtiero
authors.initials: G
authors.lastname: Palareti
authors.forename: Lidia L
authors.initials: LL
authors.lastname: Rota
authors.forename: Francesca
authors.initials: F
authors.lastname: Sampietro
authors.forename: Alessandro
authors.initials: A
authors.lastname: Squizzato
authors.forename: Domenico
authors.initials: D
authors.lastname: Prisco
authors.forename: Marco
authors.initials: M
authors.lastname: Cattaneo
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003430:Cross-Sectional Studies; D005260:Female; D006712:Homocystinuria / Q000097:blood / Q000453:epidemiology*; D006801:Humans; D020138:Hyperhomocysteinemia / Q000097:blood / Q000453:epidemiology*; D007558:Italy / Q000453:epidemiology; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D015995:Prevalence; D019851:Thrombophilia / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology*; D013927:Thrombosis / Q000097:blood / Q000453:epidemiology*; D055815:Young Adult
keywords: CBS; CI; Confidence Intervals; HHCy; Hcy; Homocysteine; Homocystinuria; Hyperhomocysteinemia; MTHFR; Thrombophilia; Thrombosis; cystathionine β-synthase; homocysteine; hyperhomocysteine; methylene tethrahydrofolate reductase; tHcy; total homocysteine