denotes an abstract that is clinically relevant.
denotes that this is a recommended PHD Trainee Session.
denotes that this is a ticketed session.Hematology Disease Topics & Pathways:
Clinical Practice (Health Services and Quality), Bone Marrow Failure Syndromes, Inherited Marrow Failure Syndromes, Diseases
Description:
The inherited bone marrow failure syndromes (IBMFS) are increasingly recognized as an underlying cause of aplastic anemia and hematologic malignancy, even in adults. Clinical presentations vary depending on the underlying germline defect and patients may present variably and with only subtle findings suggestive of IBMFS. Fanconi anemia (FA) and telomere biology disorders (TBD) represent the commonest IBMFS; both have traditionally been considered disorders of early childhood but are increasingly being recognized in adolescents and adults, sometimes in the absence of BMF. In this session, first a practical overview will be given of clinical and laboratory features that can be used to recognize and diagnose the IBMFS in the hematology clinic. Next, both FA and TBD will be discussed in greater detail, outlining the presentation and management of these complex disorders with a focus on adolescents and adults.
Dr. Emma Groarke will review the clinical and laboratory features that can be used to distinguish immune from inherited bone marrow failure. She will discuss the increasing spectrum of IBMFS being recognized in adolescents and adults, the merits and usage of specialized testing, and the role of germline genetic testing. Additionally, she will highlight why proper identification of IBMFS in the clinic is crucial for optimal patient management.
Dr. Timothy Olson will address the unique challenges and evidence-based practice recommendations for the management of adolescents and young adults (AYA) with FA. Specifically, he will discuss the increased frequency of FA diagnosis in AYA patients, improved long-term survival of children with FA following matched sibling and alternative donor hematopoietic stem cell transplantation (HSCT) performed for BMF, and the expanding need for long-term monitoring in patients achieving hematologic stabilization following ex vivo gene therapy.
Dr. Marena Niewisch will focus on the specific characteristics of TBD in adults and the differences in both presentation and genetic background compared with childhood-onset disease. She will outline the clinical clues that should raise suspicion for an underlying TBD and prompt further diagnostic. Necessary surveillance measures will be outlined, and potential therapy options addressed.
Dr. Emma Groarke will review the clinical and laboratory features that can be used to distinguish immune from inherited bone marrow failure. She will discuss the increasing spectrum of IBMFS being recognized in adolescents and adults, the merits and usage of specialized testing, and the role of germline genetic testing. Additionally, she will highlight why proper identification of IBMFS in the clinic is crucial for optimal patient management.
Dr. Timothy Olson will address the unique challenges and evidence-based practice recommendations for the management of adolescents and young adults (AYA) with FA. Specifically, he will discuss the increased frequency of FA diagnosis in AYA patients, improved long-term survival of children with FA following matched sibling and alternative donor hematopoietic stem cell transplantation (HSCT) performed for BMF, and the expanding need for long-term monitoring in patients achieving hematologic stabilization following ex vivo gene therapy.
Dr. Marena Niewisch will focus on the specific characteristics of TBD in adults and the differences in both presentation and genetic background compared with childhood-onset disease. She will outline the clinical clues that should raise suspicion for an underlying TBD and prompt further diagnostic. Necessary surveillance measures will be outlined, and potential therapy options addressed.