What are the inherited bone marrow failure syndromes (IBMFS)?
The IBMFS are a group of rare inherited diseases with varying defects in the production of red blood cells, white blood cells, and/or platelets leading to low blood counts. Patients with some of the IBMFS are at risk for developing both blood and solid tumor cancers. Many of these patients also have typical changes in their physical appearance and dysfunction in multiple organ systems apart from the bone marrow. There are several different types of IBMFS, for example, Diamond-Blackfan Anemia, Dyskeratosis Congenita, Fanconi Anemia, and Schwachman-Diamond Syndrome.
The IBMFS were traditionally diagnosed in children, however, with the advent of new laboratory and genetic testing, hematologists are now recognizing these disorders in adult patients presenting with abnormal blood counts or other findings. Additionally, children with these inherited disorders now survive to adulthood and transition their care to adult hematologists.
Diagnosis and work-up
The diagnosis of any of the IBMFS is made through careful consideration of a patient’s history, including a detailed family history of any problems in blood counts, typical physical findings, or cancer predisposition, together with a thorough physical exam to assess for clinical findings seen in IBMFS. In those patients with a suggestive history and physical exam, bone marrow examination and additional laboratory testing are important elements of the diagnostic workup; the results guide the appropriate selection of additional tests. All results should be interpreted carefully within the context of the entire clinical picture of the patient and the patient’s family. Importantly, the new diagnosis of any of the IBMFS in adult patients requires that adult hematologists remain thoughtful of the possibility that an inherited disease may first come to medical attention when the patient reaches adulthood.