Atifa Shoaib, Muhammad Ayub, Masood Anwar, Muhammad Saleem, Tahira Zafar.
Hereditary deficiency of Antithrombin III and as an underlying cause of thromboembolism in young adults.
Pak J Pathol Jan ;7(4):4-10.

Familial thrombophilia comprises a group of inherited disorders of coagulation system in which there is an increased tendency to thrombosis. The most common familial thrombophilic states include antithrombin 111 (AT III) deficiency, protein C deficiency, activated protein C (APC) resistance and protein S deficiency. Altogether these defects account for upto 60% of the patients presenting with thromboembolic disease. Of these AT 111 deficiency constitutes about 4-6% of such patients. To estimate the frequency of hereditary AT III deficiency as a cause of thromboembolism in young adults in our population young patients (less than 45 years of age) presenting with established thromboembolic disease were studied. The AT 111 levels were estimated by Immunochrome AT III reagent kit. A total of 32 patients were studied. Their median age was 29.1 years. Out of these, 19 patients had venous and 13 had arterial thrombosis. In the patients with venous thrombosis, deep vein thrombosis (DVT) was the commonest (73.7%) mode of presentation. Stroke resulting from cerebral arterial thrombosis was the main presentation in (92.3%) of the cases with arterial thrombosis. AT III deficiency was found in 2 patients and both of them had DVT. The overall frequency of hereditary AT III deficiency as a cause of thromboembolism in the young adults was 6.2% (95% CI 0-14.6%) and was confined to patients with venous thromboembolic disease.

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