Thrombophilic Genotypes in Subjects with Idiopathic Antiphospholipid Antibodies – Prevalence and Significance

Paul R. J. Ames; Catello Tommasino; Giovanna D’Andrea; Luigi Iannaccone; Vincenzo Brancaccio; Maurizio Margaglione

doi:10.1055/s-0037-1614217

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 1998; 79(01): 46-49
DOI: 10.1055/s-0037-1614217

Review Article

Schattauer GmbH

Thrombophilic Genotypes in Subjects with Idiopathic Antiphospholipid Antibodies – Prevalence and Significance

Paul R. J. Ames

¹From Department of Haematology, St. Thomas’ Hospital, London, UK

,

Catello Tommasino

¹Chemical Pathology, S. Gennaro Hospital, Naples, Italy

,

Giovanna D’Andrea

²Atherosclerosis Unit, IRCCS “Casa Sollievo della Sofferenza”, S. Giovanni Rotondo, Foggia, Italy

,

Luigi Iannaccone

³Coagulation Unit, Cardarelli Hospital, Naples, Italy

,

Vincenzo Brancaccio

³Coagulation Unit, Cardarelli Hospital, Naples, Italy

,

Maurizio Margaglione

²Atherosclerosis Unit, IRCCS “Casa Sollievo della Sofferenza”, S. Giovanni Rotondo, Foggia, Italy

› Author Affiliations

Abstract

Summary

To evaluate the significance of common thrombophilic genotypes in subjects with idiopathic antiphospholipid antibodies (aPL) we determined the methylenetetrahydrofolate reductase C⁶⁷⁷→ (MTHFR) and factor V A⁵⁰⁶→ G (FV Leiden) polymorphisms in 49 subjects with idiopathic aPL (57% of whom suffered spontaneous vein thrombosis), in 70 subjects with a history of spontaneous vein thrombosis and in 193 healthy subjects. The prevalence of MTHFR C⁶⁷⁷→+/+ (homozygotes) was 25%, 18% and 17% respectively amongst aPL thrombotics, non aPL thrombotics and controls and that of MTHFR C⁶⁷⁷→+/– (heterozygotes) was 53%, 59% and 53% respectively in the same groups. The prevalence of FV Leiden was higher in aPL thrombotics (14%) and in non aPL thrombotics (18%) than in controls (4%) (p ≤ = 0.05). APL thrombotics with MTHFR C⁶⁷⁷→+/+ had a lower mean age at first thrombotic event (22 ± 6 years) than aPL thrombotics with MTHFR C⁶⁷⁷→+/– and non mutated considered together (38 ± 14 years, p = 0.0004) and than non aPL thrombotics with MTHFR C⁶⁷⁷→+/+ (38 ± 14 years, p = 0.003). FV Leiden may con tribute to the hypercoagulability of a small, albeit significant proportion of thrombotic aPL subjects, whereas the association between MTHFR C⁶⁷⁷→+/+ and aPL may have an impact on age at first occlusive event and suggests a possible pathogenetic interaction.

Full Text

References

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