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Acta Phlebologica 2000 September;1(1):17-21


language: English

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.

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