A Formidable Family History

Patient N.U.- Hispanic male with history of DVT 6 years ago at age 32, brother had fatal PE age 38, now scheduled for excision of chronic thrombosed superficial veins.

Referred regarding possible need for peri-operative anti-coagulation.

Complete work-up including Protein C,S, ATIII, RAPC, PCR for PT 20,210 and MTHR all negative as well as normal ACLA titers and negative LA screen. Nonetheless given the history, he was given 30 mg Enoxaparin bid post-op; despite this, 7 days later he presented with a PE!!!. This is a reminder that there are obviously heretofore additional hypercoaguable states- at this point the following potential, though not all fully proven congenital hypercoaguable states could be considered:

* FVIII excess (MacCallum PK. Meade TW. Cooper JA. Stirling Y. Howarth DJ. Ruddock V. Miller GJ. Clotting factor VIII and risk of deep-vein thrombosis Lancet. 345(8952):804, 1995 Mar 25) * Factor XI excess (Meijers JC. Tekelenburg WL. Bouma BN. Bertina RM. Rosendaal FR.High levels of coagulation factor XI as a risk factor for venous thrombosis. New England Journal of Medicine. 342(10):696-701, 2000 Mar 9) * Factor XII deficiency (Winter M. Gallimore M. Jones DW. Should factor XII assays be included in thrombophilia screening? [letter]. Lancet. 346(8966):52, 1995 Jul 1) * Plasminogen deficiency * PAI excess (Elevated plasminogen activator inhibitor (PAI), a cause of thrombophilia? A study in 203 patients with familial or sporadic venous thrombophilia. Thrombosis & Haemostasis. 62(2):673-80, 1989 Sep 29) * Tissue Factor Pathway Inhibitor deficiency (Kleesiek K. Schmidt M. Gotting C. Brinkmann T. Prohaska W. A first mutation in the human tissue factor pathway inhibitor gene encoding [P151L]TFPI [letter]. Blood. 92(10):3976-7, 1998 Nov 15.)

The above are potentially hypercoaguable states and its probably worth looking into these in a young patient with thrombosis and compelling family history after Protein C , S, ATIII deficiency, FV Leiden,PT 20,210 and hyperhomocysteinemia are ruled out. This may be academic if the decision has been made for life-long Coumadin but it would be helpful to know for the future in screening family members.

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