RUNX1 FPD/AML is a hereditary blood disorder which predisposes an individual to acquiring leukemia in his or her lifetime. The RUNX1 gene is important for the formation and function of blood cells. Individuals with FPD/AML have only one copy of the RUNX1 gene (instead of the normal two), and as a result certain blood cell types are adversely affected. Patients typically present as having low platelets (thrombocytopenia), and the platelets they have are functionally impaired, causing bleeding problems such as nose bleeds, excessive bleeding during minor surgery, and easy bruising. The disorder carries a 50% lifetime risk of progressing to leukemia through the acquisition of additional mutations in other genes. As an ‘autosomal dominant’ disorder’, each individual with FPD/AML carries a 50% chance of passing the mutation to each child.
Though considered a rare disorder, the frequency of FPD/AML has been historically underestimated. Incidence has increased in recent years with awareness as well as cost efficiencies and access to genetic testing. Individuals with bleeding problems, or with a family history of leukemia are advised ask their clinicians about genetic testing for inherited leukemia predisposition genes.