Comprehensive diagnostic approach and real-life treatment strategy in a Vietnamese pedigree with familial protein S deficiency

Protein S is a glycoprotein essential in the regulation of blood coagulation. Familial protein deficiency increases risk venous thromboembolism approximately 2- to 11-fold. Herein, we report this disorder six members Vietnamese family among which three had thromboembolism, and other were asymptomatic. The levels ranged from 10.1% 24%, but did not identify any PROS1 mutation. In one patient, rare combination C withPROC heterozygous c.565C>T (p.Arg189Trp) mutation was confirmed. Direct oral coagulation predominantly selected for both treatment prophylaxis, yielded no thromboembolic hemorrhagic events during long-term follow-up. patients without overt clinical manifestations those with minimized factors could be safely left untreated. present pedigree systematically illustrated diagnostic approach an integrated consideration deploying various individualized options.