Uncommon Factor Deficiencies

Patients who present with an abnormal bleeding history require evaluation. Abnormal bleeding may be due to acquired or inherited conditions. Once acquired causes are excluded, an investigation for inherited blood coagulation factor deficiencies should be initiated. If mixing studies demonstrate correction of prolonged prothrombin time (PT) and/or partial thromboplastin time (PTT), specific factor assays can be used to identify the deficiency.   After exclusion of factor (F) VIII and FIX deficiencies and von Willebrand disease (VWD), rare factor deficiencies should be investigated; these include deficiencies in fibrinogen (FI), FII, FV, FVII, combined FV plus FVIII, FX, FXI, and FXIII.  These rare deficiencies account for approximately 3-5% of all coagulation disorders in the general population,  but can have higher incidence in specific populations, such as Ashkenazi Jews.  Abnormal clotting times should guide test selection.

Tabs Content
Content Review: 
August 2019

Last Update: September 2019