Extensive deep vein thrombosis in a young woman

We report a case of a young lady with an extensive deep vein thrombosis (DVT) diagnosed by CT scan and duplex ultrasound examination. Contributory factors were relative immobilisation, oral contraception and hyperhomocysteinemia after methionine loading. No other thrombophilic factors could be found. The three main causes of hyperhomocysteinemia are genetic defects, nutritional deficiencies and insufficient elimination. In our case a genetic defect for one of the key enzymes of homocysteine metabolism, may be the underlying cause. Besides stopping oral contraceptive drugs, anticoagulation and supplementation with pyridoxine and folate was started. Family screening was 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.