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Mid-life extra-haematopoetic manifestations of Diamond-Blackfan anaemia


SUMMARY: Diamond-Blackfan anaemia (DBA) is a rare cause of bone marrow failure. The incidence of malignancy and endocrine complications are increased in DBA, relative to other inherited bone marrow failure syndromes. We describe an adult woman with DBA who developed osteoporosis and avascular necrosis (AVN) of both distal femora. Such endocrine complications are not uncommon in DBA, but under-appreciated, especially in adulthood. Further, rectal adenocarcinoma was diagnosed at age 32 years, requiring hemi-colectomy and adjuvant chemotherapy. Elevated cancer risk may warrant disease-specific screening guidelines. Genetic predictors of extra-haematopoetic complications in DBA are yet to be established. LEARNING POINTS: Endocrine complications are common in DBA.Clinical vigilance is required in managing bone health of DBA patients treated with glucocorticoids.There is currently no reliable way to predict which patients will develop complications of therapy or premature malignancy related to DBA.Complaints of bone or joint pain should prompt screening with targeted magnetic resonance imaging. Osteoporosis screening should be performed routinely.

Type Journal
ISBN 2052-0573 (Linking)
Authors Muir, C.; Dodds, A.; Samaras, K.
Responsible Garvan Author Prof Katherine Samaras
Publisher Name Endocrinology, diabetes & metabolism case reports
Published Date 2017-04-24
Published Volume 2017
Published Pages pii: 16-0141
Status Always Electronic
DOI 10.1530/EDM-16-0141
URL link to publisher's version
OpenAccess link to author's accepted manuscript version