Factor XI Deficiency

Stefano Duga; Ophira Salomon

doi:10.1055/s-0029-1225764

Seminars in Thrombosis and Hemostasis, Table of Contents

Semin Thromb Hemost 2009; 35(4): 416-425
DOI: 10.1055/s-0029-1225764

Factor XI Deficiency

Stefano Duga¹ , Ophira Salomon²

¹Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy
²The Amalia Biron Research Institute of Thrombosis and Hemostasis, Chaim Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

Abstract

ABSTRACT

Severe factor XI (FXI) deficiency is an injury-related bleeding disorder common in Ashkenazi Jews and rare worldwide. In the past two decades, more than 180 mutations in the FXI gene have been reported in patients with FXI deficiency, five of which show a founder effect (Cys38Arg, Gln88Stop, Cys128Stop, Glu117stop, and Phe283Leu, the last two largely prevalent among Ashkenazi Jews). Inhibitors to FXI after exposure to plasma, FXI concentrates, or Rh immunoglobulin were described in patients with mutations resulting in null alleles. Treatment with low-dose recombinant activated factor VII in these patients appears 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.

KEYWORDS

Factor XI - CRM+ - inhibitors - founder effect - bleeding - treatment

Full Text

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Dr. Ophira SalomonM.D.

The Amalia Biron Research Institute of Thrombosis and Hemostasis, Chaim Sheba Medical Center

Tel Hashomer and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

Email: ophiras@sheba.health.gov.il