PAI-1 polymorphism as a cause of severe high altitude associated arteriovenous thrombosis.

We present a 34-year-old man who developed disseminated intra-arterial and venous thrombosis following exposure to extreme high altitude. On evaluation, the patient was found to have thrombosis involving the aorta, bilateral iliac arteries and middle cerebral artery. On detailed evaluation for the cause of recurrent seizures, he was also found to have cerebral venous thrombosis of the superior sagittal sinus. The patient underwent amputation of 3 limbs due to gangrene. Procoagulant work up revealed increased plasminogen activator inhibitor-1 activity with 4G/4G polymorphism. This case highlights the life-threatening and limb-threatening thrombosis secondary to a rare inherited thrombophilia on exposure to extreme high altitude.