A Case of Hereditary Protein S Deficiency Presenting with Cerebral Sinus Venous Thrombosis and Deep Vein Thrombosis at High Altitude

Abstract

A 35-year-old healthy male with no history of any past medical illness developed severe headache, vomiting and drowsiness while at high altitude (4,572 m) in the eastern Himalayan ranges. He was evacuated to a tertiary-care hospital where he was diagnosed to have cerebral sinus venous thrombosis (CSVT) on magnetic resonance imaging, with deep vein thrombosis (DVT) of his right popliteo-femoral vein on color Doppler study. Investigation for thrombophilia revealed protein S (PS) deficiency in this patient. Family screening revealed low levels of PS in two elder brothers. One brother had a history of ‘stroke in young’ at the age of 20 years with the other being asymptomatic. This established the hereditary nature of PS deficiency. We are not aware of any previously published report on hereditary PS deficiency combined with CSVT and DVT occurring at high altitude. However, 1 case of protein C deficiency with CSVT has been reported previously.

Cerebral Venous Sinus Thrombosis during Everest Expedition: A Case Report and Review of the Literature

“…Our case had dehydration, polycythemia, decreased protein S activity, and history of an ascent to high altitude. Ascent to high altitude in presence of hereditary thrombophilia (like protein S deficiency in our case) may lead to a widespread thrombosis (CVST and deep venous thrombosis of lower limb) in a patient like one described by Nair and his colleagues [19]. Our case did not have deep venous thrombosis of lower limbs, upper limbs, or pulmonary embolism.…”

Superior sagittal sinus thrombosis presenting as a continuous headache: a case report and review of the literature

“…Given that the patient lives in Kathmandu which lies 1324 m above sea level we can tentatively speculate that this high altitude may have had a hand in the formation of the CVST as this has been demonstrated in a number of previous cases [10,11]. It should be mentioned however, that patient suffering from thrombophilic states have been shown to be at particular risk of developing CVST at high altitude [12,13]. Institutional experience suggests that CVST can represent an aspect of high altitude illness and should be included as a differential for patients presenting with high altitude cerebral oedema [unpublished].…”

Cerebral Venous Sinus Thrombosis at High Altitude

“…Sagittal sinus thrombosis in a high altitude sojourner associated with protein C deficiency has been documented in the past (Boulos et al, 1999). A case of hereditary protein S deficiency presenting with CVST has also been reported (Nair et al, 2008). Our patient had a heterozygous mutation (G1691A) of Factor V, also known as Leiden mutation, and decreased level of protein S. Activated protein C along with protein S prevent clotting by inhibiting Factor V, Factor VIII, and tissue plasminogen activator (t-PA), hence, regulating fibrinolysis.…”