CLINICAL MANIFESTATIONS AND MANAGEMENT OF INHERITED THROMBOPHILIA - RETROSPECTIVE ANALYSIS AND FOLLOW-UP AFTER DIAGNOSIS OF 238 PATIENTS WITH CONGENITAL DEFICIENCY OF ANTITHROMBIN-III, PROTEIN-C, PROTEIN-S

The clinical history of 238 patients with inherited thrombophilia (AT III = 94, PC = 103, PS = 41) was analyzed retrospectively at diagnosis and in the follow-up period after diagnosis. At diagnosis 129 patient s (54%) had suffered from thrombosis, with a recurrence rate of 48%. T he most frequent onset manifestation was deep vein thrombosis of lower limbs (58%). Thrombotic history started before 40 in 80% of the cases . Forty-nine percent of the venous thromboses were preceded by a trigg ering event, in most cases pregnancy (17%) and surgery (12%). After di agnosis, follow-up lasted a total of 1,113 pt-years. A policy of short -term prophylaxis during risk situations for all patients and long-ter m prophylaxis in symptomatic patients failed to prevent venous thrombo tic episodes (diagnosed by objective methods) in 4 previously asymptom atic subjects and recurrence in 7 previously symptomatic subjects, aft er knowledge of the patients' diagnosis the incidence of venous thromb osis/100 pt-years was reduced as compared before diagnosis as total ep isodes (onset + recurrencies) (1.0 vs 1.9) onset episodes (0.7 vs 1.3) and recurrent episodes (1.3 vs 4.8), even though the differences were not statistically significant. However most of the venous thromboses occurred at a more advanced age (67% after 40 years) and without any a pparent cause (83%), at significant variance with the period preceding the diagnosis; in particular the incidence of venous thrombotic onset in patients younger than 40 passed from 1.3/100 pt-years to 0.2/100 p t-years. In 6 recurrences after diagnosis a poor compliance for antith rombotic treatment was recognized. We conclude that a policy based on knowledge of diagnosis and on the implementation of antithrombotic tre atment during risk situations appears to modify the clinical outcome o f deficiencies of natural anticoagulants even in the absence of long-t erm antithrombotic prophylaxis; in particular morbidity of young patie nts is significantly reduced.