von Willebrand disease, hemophilia A, and hemophilia B account for most inherited coagulation factor deficiencies worldwide. Inherited rare coagulation factor deficiencies, more commonly referred to as rare bleeding disorders (RBD), consist of deficiencies in fibrinogen as well as factors II (FII), V (FV), VII (FVII), X (FX), XI (FXI), XIII (FXIII); combined factor V + VIII deficiency; and vitamin K-dependent coagulation factor deficiency. Inherited RBD represent only 3% to 5% of all inherited deficiencies of coagulation factors. However, individuals with RBD can present with clinically significant bleeding and are at risk of delayed diagnosis or misdiagnosis due to the rare nature of these disorders.1 RBD are predominantly inherited in an autosomal recessive pattern and are more common in areas with higher rates of consanguineous marriages. The heterozygous state is usually asymptomatic. This review focuses on deficiencies of coagulation FII, FV, FVII, and FX.
Hematology/Oncology Clinics of North America, Volume 35, Issue 6, December 2021, Pages 1181-1196,