Extensive deep vein thrombosis in a young woman - Case report

We report a case of a young lady with an extensive deep vein thrombosis (DV T) diagnosed by CT scan and duplex ultrasound examination. Contributory fac tors were relative immobilisation, oral contraception and hyperhomocysteine mia after methionine loading. No other thrombophilic factors could be found . The three main causes of hyperhomocysteinemia are genetic defects, nutrit ional deficiencies and insufficient elimination. In our case a genetic defe ct for one of the key enzymes of homocysteine metabolism, may be the underl ying cause. Besides stopping oral contraceptive drugs, anticoagulation and supplementation with pyridoxine and folate was started. Family screening wa s carried out and revealed other members with hyperhomocysteinemia. Whether therapy with pyridoxine and folate can substantially reduce the recurrence of venous thromboembolic disease remains to be established.