Living with RUNX1 FPD/AML

Individuals with the disorder typically present as having low platelets (thrombocytopenia), and the platelets they have are functionally impaired, causing more bruising and bleeding and slower blood clotting than the norm (nose bleeds, excessive bleeding during surgery), and females can suffer from heavy periods (also called menorrhagia). The severity of one’s platelet count and dysfunction can affect the quality of one’s life.

Although the bleeding manifestations in FPD/AML do not require daily attention typically, being followed by a hematologist with expertise in platelet disorders is important for several reasons, including the need to receive proper education and to optimize care. It is typically recommended to avoid aspirin and non-steroidal analgesics, to maintain optimal dental and gum care, and to know how to manage nosebleeds. Activities in which concussions are more likely should be avoided as this increases the likelihood of an intracranial bleed. Management of menorrhagia is usually done in combination with a gynecologist, and planning for childbirth with an obstetrician. It is highly important that both your surgeon and hematologist are in contact for correct surgical management.

RUNX1 FPD/AML carries a 50 percent lifetime risk of leukemia through the acquisition of additional mutations in other genes.*According to a 2014 review of 11 FPD/AML papers, "Distinct FPD/AML families have varying risks of progression to myeloid malignancy (range, 11%-100%; median, 44%).” Godley, Lucy A., “Inherited Predisposition to Acute Myeloid Leukemia”,  Approximately 38.5 percent of men and women in America will be diagnosed with cancer of any site at some point during their lifetime, based on 2012-2014 data provided by Having RUNX1 FPD/AML increases one’s odds, but this should not be to the detriment of one’s quality of life. Much research remains to be done in this realm, and we hope you consider participating in our Patient Registry (Coming 2018).