Key result
The novel FVNara (W1920R) mutation was associated with serious deep vein thrombosis and exhibited more potent APC resistance than FVLeiden due to significantly weakened APC-catalyzed inactivation.
Case Report (n=1)
Effect estimate: weakened by ~11- and ~4.5-fold compared with FV-WT and FVLeiden
The novel FVNara (W1920R) mutation causes severe deep vein thrombosis through potent APC resistance that is more severe than FVLeiden due to loss of FVa susceptibility to APC and APC cofactor activity.
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FVNara shows stronger APC resistance than FVLeiden in this model; leaves open human prevalence, risk stratification, and management implications.
Nogami et al. (2014) conducted a case report in Deep vein thrombosis (n=1). FVNara (W1920R) mutation vs. FV-wild-type and FVLeiden was evaluated on APC-catalyzed inactivation of FVa (weakened by ~11- and ~4.5-fold compared with FV-WT and FVLeiden). The novel FVNara (W1920R) mutation was associated with serious deep vein thrombosis and exhibited more potent APC resistance than FVLeiden due to significantly weakened APC-catalyzed inactivation.
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