title: PAI-1 polymorphism as a cause of severe high altitude associated arteriovenous thrombosis.
abstract: 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.
authors.affiliation: Armed Forces Medical Services, Army Medical Corps (Indian Army), New Delhi, India.
authors.forename: Velu
authors.initials: V
authors.lastname: Nair
authors.affiliation: Department of Internal Medicine, Armed Forces Medical College, Pune, Maharashtra, India.|Department of Internal Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, Chandigarh, India.
authors.forename: Uday
authors.initials: U
authors.lastname: Yanamandra
authors.affiliation: Department of Vascular Surgery, Max Super Specialty Hospital, New Delhi, Delhi, India.
authors.forename: Rai
authors.initials: R
authors.lastname: Kumud
authors.affiliation: Department of Immunohematology & Hematopathology, Surat Raktadan Kendra & Research Centre, Surat, Gujarat, India.
authors.forename: Kanjakya
authors.initials: K
authors.lastname: Ghosh
mesh_terms: D000328:Adult; D000531:Altitude; D000671:Amputation, Surgical; D000927:Anticonvulsants / Q000627:therapeutic use; D001011:Aorta / Q000000981:diagnostic imaging; D003952:Diagnostic Imaging; D005440:Fluid Therapy; D005734:Gangrene / Q000150:complications / Q000628:therapy; D006801:Humans; D007083:Iliac Artery / Q000000981:diagnostic imaging; D020767:Intracranial Thrombosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D008297:Male; D020768:Middle Cerebral Artery / Q000000981:diagnostic imaging; D009051:Mountaineering; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D012307:Risk Factors; D012640:Seizures / Q000150:complications / Q000188:drug therapy; D019851:Thrombophilia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D020246:Venous Thrombosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
chemical_list: D000927:Anticonvulsants; D017395:Plasminogen Activator Inhibitor 1