Psychosocial aspects of RUNX1 ‐familial platelet disorder in adolescents and young adults: “The fear of knowing it could happen sometime down the road”

Abstract

Germline pathogenic variants in the RUNX1 gene lead to the condition RUNX1 ‐familial platelet disorder ( RUNX1‐ FPD). This condition is associated with a 30%–50% lifetime risk of hematologic malignancies, including acute myeloid leukemia. In addition to physical manifestations including prolonged bleeding and easy bruising, individuals with RUNX1 ‐FPD face profound psychosocial challenges. Individuals 18–39 years old may particularly struggle in their experiences with RUNX ‐FPD as they navigate developmental milestones. This descriptive, cross‐sectional study includes participants aged 18–39, enrolled in the NIH RUNX1 Natural History Study (19‐HG‐0059). Each participant completed a structured psychosocial self‐report assessment that included demographic factors, patient‐reported outcomes on mental health symptomatology, psychiatric treatment history, and traumatic stress symptomatology. Open‐ended questions asked participants to identify the most difficult part of living with RUNX1 ‐FPD and how RUNX1 ‐FPD has impacted their lives. Twenty‐two participants completed the measures and were included in the analyses. Participants' mean age was 31 years (SD = 5.1). Fifty percent of participants reported higher than average anxiety scores, 59% reported they had been treated by a mental health professional, and 64% reported traumatic stress symptomatology. Living with the chronic uncertainty of cancer development and overall distress from recommended lifelong monitoring processes emerged as themes from the illustrative exemplar quotes. With this study, we describe the significant psychosocial and mental health challenges that emerging adults with RUNX1 ‐FPD face. Access to psychological counseling, peer support groups, and genetic counseling can help individuals process their risk, manage anxiety, and make informed decisions. More research is needed to explore effective coping strategies, resilience‐building techniques, and patient‐centered resources to improve quality of life for those living with a hereditary predisposition to hematologic malignancies.