CONGENITAL SEVERE PROTEIN C DEFICIENCY IN ADULTS

We (Melissari et al, 1985, T.R. 29 [1985] 641) were the first to identify the occurrence of severe protein C deficiency in an adult with thrombophilia and undetectable protein C levels. This report documents our clinical and laboratory resuts of this patient and his family, as well as another 8 patients, in two more, unrelated families. In these unique families with members suffering from severe protein C deficiency (≤6%), no one had experienced neonatal purpura fulminans. Symptoms started mainly in their early twenties, except in 2 patients who first had symptoms at the ages of 11 and 13. The expression of the protein C deficiency was mainly recurrent superficial and deep iliofemoral vein thrombosis and pulmonary embolism. The protein C deficiency was also expressed as generalised peritonitis due to massive messenteric vein thrombosis, cavernus sinus, renal vein thrombosis and priapism. In one of these families, five members died of intra-abdominal thrombosis before the age of 40. A compensated diffuse intra- vascular coagulation syndrome was observed during massive thromboembolic attacks as evidenced by high levels of D-Dimer (≥5000ng/ml). The treatment of choice was heparin or urokinase (with the exception of one patient), followed by heparin and fresh frozen plasma. Long term prophylaxis was LMW heparin or low dose warfarin plus stromba. The one patient who did not respond to the thrombolytic treatment with urokinase was found to have in his plasma a high titre of inhibitor against urokinase and prourokinase. This patient responded to streptokinase treatment. D-Dimer levels in these patients in non-crisis state were raised and proportional to the degree of the protein C deficiency.