Broken Bone Marrow: Comparing and Contrasting Acquired Aplastic Anemia and Inherited Bone Marrow Failure Syndromes (200)

10:45 – 11:45 am Wednesday, September 2

Bone marrow failure represents a diverse and rare group of hematologic disorders. Some patients have subtle findings that may go unrecognized for years, while others present with acute, severe cytopenias. As patients with an inherited disorder have increased risk of comorbidities and predisposition to malignancy, acquired aplastic anemia (AA) must be differentiated from inherited bone marrow failure syndromes (IBMFS) in order to provide appropriate treatment and surveillance.

Genetic testing has, therefore, become a key component of the diagnostic workup. For AA, matched sibling transplant remains the treatment of choice while immunosuppressive therapy (IST) is reserved for children without an HLA-matched family donor. IST is not curative and risks include refractory disease, relapse, and progression to MDS or acute leukemia. New data suggest that a closely matched unrelated donor is an appropriate upfront therapy for younger children without an appropriate family donor. New medications and alternative donor transplants are also being studied. The most common IBMFS are Fanconi anemia, Shwachman-Diamond syndrome, Diamond-Blackfan anemia, and dyskeratosis congenita. Identification of a genetic mutation guides the selection of therapies and monitoring for comorbidities including cancer predisposition. Genetic counseling for families affected by these disorders is crucial, as is the screening of family members, especially siblings who may be considered as bone marrow donors. Join us as we explore several patient case studies that highlight best practice guidelines for managing children and adolescents with AA and IBMFS including treatment selection, supportive care guidelines, and monitoring for complications of both the disease and therapies.

Lauren Zakes, MS RN CPNP-AC CPHON®
Karyn Brundige, MSN CPNP
CNE Hours: