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A Journal on Phlebology
Acta Phlebologica 2000 September;1(1):17-21
Genetic thrombophilia and clinics
Bonifacio M. 1, Carlizza A. 1, Allegra C. 1, Antonucci G. 2
1 UOD di Angiologia (Primario: Prof. C. Allegra);
2 Modulo di Diagnostica per le Malattie Tromboemboliche ed Emorragiche, Azienda Ospedaliera S. Giovanni Addolorata, Roma
BACKGROUND: Aim of our study was to assess the prevalence of the most frequent hereditary thrombophilic states (APC-R, Factor II mutation, Protein C deficiency, Protein S deficiency, type I AT III deficiency, hyperhomocysteinemia) and their correlation with pathologies affecting the patients.
METHODS: We examined 210 consecutive patients affected by peripheral vascular diseases, attending our Day Hospital for the diagnosis and treatment of vascular disorders and 142 controls, free from overt arterial or venous pathologies, recruited among outpatients. The investigation included: patient’s history, clinical examination, Duplex scan in order to confirm or exclude arterial and/or venous pathologies.
RESULTS: The overall prevalence of thrombophilic factors was 16.1% in controls, while, among the 210 affected subjects, 96 (45.71%) were discovered to be carriers of at least one of the thrombophilic risk factors considered; the relative prevalence of APC-R (21.87%), heterozygous mutant Factor II (20.08%) and hyperhomocysteinemia (37.57%) turned out significant. The patients, carriers of APC resistance, protein C and S deficiency, mutant Factor II, mostly presented past or acute venous thrombosis. In 12.5% of patients an association of more thrombophilic factors was found. Relevant was the prevalence of hyperhomocysteinemia, mild and moderate, associated to venous (17.7%) and arterial (19.79%) thrombotic disease, without significant difference. A peculiar correlation can be found between mild and moderate hyperhomocysteinemia with clinical pictures, poorly mentioned in literature, as cholesterol emboli disease and blue toe syndrome, found in 12 patients out of 19 affected by POAD (63.15%).
CONCLUSIONS: From the collected data, we can confirm: a) the high prevalence of heterozygous mutant factor II, almost as frequent as APC-R, and associated mostly with venous thrombosis; b) the relevant prevalence of mild and moderate hyperhomocysteinemia, associated to venous and arterial thrombotic disorders, without significant difference. Greatest interest concerns the correlation with cholesterol emboli disease and other severe ischaemic pictures which can be generically referred to as “blue toe syndrome”, of which the association with primary thrombophilia doesn’t seem to be reported in literature. Such correlation, though requiring further confirmation on a larger scale, puts more questions about the real role of hyperhomo-cysteinemia, and the possibility to improve the prognosis of associated ischaemic conditions with folates, as integration of conventional therapy.