Severe factor XI (FXI) deficiency is an injury-related bleeding disorder, common in Ashkenazi Jews and rare worldwide. In the last 2 decades more than 180 mutations in the FXI gene have been reported in patients with FXI deficiency, 5 of which showing a founder effect (Cys38Arg, Gln88Stop, Cys128Stop, Glu117stop, and Phe283Leu, the last two largely prevalent among Ashkenazi Jews). Inhibitors to FXI were described in patients with mutations resulting in null alleles, following exposure to plasma, FXI concentrates, or Rh immunoglobulin. Treatment with low dose recombinant activated factor VII in these patients seems promising. Survival advantages to patients with severe FXI have been recently reported. Herein, we present new observations related to clinic presentation, genotype-phenotype correlation, and treatment problems in patients with FXI deficiency.
Factor XI deficiency
S. Duga;
2009-01-01
Abstract
Severe factor XI (FXI) deficiency is an injury-related bleeding disorder, common in Ashkenazi Jews and rare worldwide. In the last 2 decades more than 180 mutations in the FXI gene have been reported in patients with FXI deficiency, 5 of which showing a founder effect (Cys38Arg, Gln88Stop, Cys128Stop, Glu117stop, and Phe283Leu, the last two largely prevalent among Ashkenazi Jews). Inhibitors to FXI were described in patients with mutations resulting in null alleles, following exposure to plasma, FXI concentrates, or Rh immunoglobulin. Treatment with low dose recombinant activated factor VII in these patients seems promising. Survival advantages to patients with severe FXI have been recently reported. Herein, we present new observations related to clinic presentation, genotype-phenotype correlation, and treatment problems in patients with FXI deficiency.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
