Background
Thrombophilias are characterized by excessive venous and arterial thrombosis at regular or unusual sites. It
may result from inherited, acquired, or a combination. Hereditary thrombophilia (HT) is detected in 30–40% of patients with
thromboembolism. Venous/arterial thrombosis is considered a multifactorial disorder, some patients may have more than one
risk factor which may be transient or permanent.
Objectives
Assess the clinical characteristics of patients with unprovoked thromboembolic events and the role of inherited
thrombophilia as a causative or additive risk factor.
Methods
210 consecutive adult patients with unprovoked thromboembolic events were reviewed in hematology units at
three tertiary Egyptian centers between September 2022 and September 2023. The diagnosis of thromboembolic events was
confirmed by clinical and radiological findings. Laboratory screening for thrombophilia-associated.
Results
Among our patients, 53(25.2%) patients presented with isolated DVT, followed by portal vein thrombosis, 32(15.2%)
had a pulmonary embolism, and sagittal sinus thrombosis was developed in 23(10.9%) patients.
Conclusion
Younger people who experience spontaneous thromboembolism run the chance of having hereditary thrombo-
philia; the more mutations discovered, the higher the risk of thrombosis; the lower leg and deep vein thrombosis were the
most common sites. Lastly, MTHFR C677T was the most common polymorphism in Egyptians, detected in almost half of
the cases.
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