“Thrombophilia”, from the Greek words “trombo” (blood clot) and “philia” (affinity), indicates an increased tendency to form pathological intravascular thrombosis, which may develop spontaneously or at a young age. Screening is typically limited to high-risk individuals rather than the general population.
In the early 1980s, both Protein C and Protein S deficiencies were identified in the United States. These autosomal dominant conditions increase thrombosis risk 5- to 10-fold in heterozygotes, while homozygosity is often fatal without treatment. In 1994, Prof. Bertina and his team discovered FV Leiden. This mutation, converting arginine 506 to glutamine, makes FV resistant to inactivation by activated protein C, significantly raising VTE risk, and is observed in 1 to 5% of the general population, which represents 30 to 50% of all congenital thrombophilia cases.








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