Evaluation of the prevalence of severe hyperhomocysteinemia in adult patients with thrombosis who underwent screening for thrombophilia

Federico Lussana, Silvia Betti, Armando D'Angelo, Valerio De Stefano, Sandra Fedi, Paola Ferrazzi, Cristina Legnani, Rossella Marcucci, Gualtiero Palareti, Lidia L. Rota, Francesca Sampietro, Alessandro Squizzato, Domenico Prisco, Marco Cattaneo

Research output: Contribution to journalArticle

Abstract

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 > 100 μmol/L). Results Of 19,678 cross-sectionally collected patients with thrombosis who underwent thrombophilia screening in the last 12.5 years (median value, range 6-17), 38 had severe HHcy (0.2%). Their median age at diagnosis was 47 years (range 19-83) and the median level of tHcy was 130 μmol/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.

Original languageEnglish
Pages (from-to)681-684
Number of pages4
JournalThrombosis Research
Volume132
Issue number6
DOIs
Publication statusPublished - Dec 2013

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Hyperhomocysteinemia
Thrombophilia
Thrombosis
Homocystinuria
Vitamin B Complex
Betaine
Thromboembolism
Venous Thromboembolism
Signs and Symptoms

Keywords

  • Homocysteine
  • Homocystinuria
  • Hyperhomocysteinemia
  • Thrombophilia
  • Thrombosis

ASJC Scopus subject areas

  • Hematology

Cite this

Evaluation of the prevalence of severe hyperhomocysteinemia in adult patients with thrombosis who underwent screening for thrombophilia. / Lussana, Federico; Betti, Silvia; D'Angelo, Armando; De Stefano, Valerio; Fedi, Sandra; Ferrazzi, Paola; Legnani, Cristina; Marcucci, Rossella; Palareti, Gualtiero; Rota, Lidia L.; Sampietro, Francesca; Squizzato, Alessandro; Prisco, Domenico; Cattaneo, Marco.

In: Thrombosis Research, Vol. 132, No. 6, 12.2013, p. 681-684.

Research output: Contribution to journalArticle

Lussana, F, Betti, S, D'Angelo, A, De Stefano, V, Fedi, S, Ferrazzi, P, Legnani, C, Marcucci, R, Palareti, G, Rota, LL, Sampietro, F, Squizzato, A, Prisco, D & Cattaneo, M 2013, 'Evaluation of the prevalence of severe hyperhomocysteinemia in adult patients with thrombosis who underwent screening for thrombophilia', Thrombosis Research, vol. 132, no. 6, pp. 681-684. https://doi.org/10.1016/j.thromres.2013.09.038
Lussana, Federico ; Betti, Silvia ; D'Angelo, Armando ; De Stefano, Valerio ; Fedi, Sandra ; Ferrazzi, Paola ; Legnani, Cristina ; Marcucci, Rossella ; Palareti, Gualtiero ; Rota, Lidia L. ; Sampietro, Francesca ; Squizzato, Alessandro ; Prisco, Domenico ; Cattaneo, Marco. / Evaluation of the prevalence of severe hyperhomocysteinemia in adult patients with thrombosis who underwent screening for thrombophilia. In: Thrombosis Research. 2013 ; Vol. 132, No. 6. pp. 681-684.
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abstract = "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 > 100 μmol/L). Results Of 19,678 cross-sectionally collected patients with thrombosis who underwent thrombophilia screening in the last 12.5 years (median value, range 6-17), 38 had severe HHcy (0.2{\%}). Their median age at diagnosis was 47 years (range 19-83) and the median level of tHcy was 130 μmol/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.",
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T1 - Evaluation of the prevalence of severe hyperhomocysteinemia in adult patients with thrombosis who underwent screening for thrombophilia

AU - Lussana, Federico

AU - Betti, Silvia

AU - D'Angelo, Armando

AU - De Stefano, Valerio

AU - Fedi, Sandra

AU - Ferrazzi, Paola

AU - Legnani, Cristina

AU - Marcucci, Rossella

AU - Palareti, Gualtiero

AU - Rota, Lidia L.

AU - Sampietro, Francesca

AU - Squizzato, Alessandro

AU - Prisco, Domenico

AU - Cattaneo, Marco

PY - 2013/12

Y1 - 2013/12

N2 - 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 > 100 μmol/L). Results Of 19,678 cross-sectionally collected patients with thrombosis who underwent thrombophilia screening in the last 12.5 years (median value, range 6-17), 38 had severe HHcy (0.2%). Their median age at diagnosis was 47 years (range 19-83) and the median level of tHcy was 130 μmol/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.

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 > 100 μmol/L). Results Of 19,678 cross-sectionally collected patients with thrombosis who underwent thrombophilia screening in the last 12.5 years (median value, range 6-17), 38 had severe HHcy (0.2%). Their median age at diagnosis was 47 years (range 19-83) and the median level of tHcy was 130 μmol/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.

KW - Homocysteine

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KW - Hyperhomocysteinemia

KW - Thrombophilia

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