Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.
Diamond Blackfan anaemia (DBA) is a rare, genetically and clinically heterogeneous, inherited red cell aplasia. Classical DBA affects about seven per million live births and presents during the first year of life. However, as mutated genes have been discovered in DBA, non-classical cases with less distinct phenotypes are being described in adults as well as children. In caring for these patients it is often difficult to have a clear understanding of the treatment options and their outcomes because of the lack of complete information on the natural history of the disease. The purpose of this document is to review the criteria for diagnosis, evaluate the available treatment options, including corticosteroid and transfusion therapies and stem cell transplantation, and propose a plan for optimizing patient care. Congenital anomalies, mode of inheritance, cancer predisposition, and pregnancy in DBA are also reviewed. Evidence-based conclusions will be made when possible; however, as in many rare diseases, the data are often anecdotal and the recommendations are based upon the best judgment of experienced clinicians. The recommendations regarding the diagnosis and management described in this report are the result of deliberations and discussions at an international consensus conference.
Vlachos
Adrianna
A
The Feinstein Institute for Medical Research, Manhasset, NY, USA. avlachos@lij.edu
Ball
Sarah
S
Dahl
Niklas
N
Alter
Blanche P
BP
Sheth
Sujit
S
Ramenghi
Ugo
U
Meerpohl
Joerg
J
Karlsson
Stefan
S
Liu
Johnson M
JM
Leblanc
Thierry
T
Paley
Carole
C
Kang
Elizabeth M
EM
Leder
Eva Judmann
EJ
Atsidaftos
Eva
E
Shimamura
Akiko
A
Bessler
Monica
M
Glader
Bertil
B
Lipton
Jeffrey M
JM
D000328:Adult; D029503:Anemia, Diamond-Blackfan / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D002648:Child; D000013:Congenital Abnormalities / Q000209:etiology; D003937:Diagnosis, Differential; D017707:Erythrocyte Transfusion; D005260:Female; D020022:Genetic Predisposition to Disease; D005938:Glucocorticoids / Q000627:therapeutic use; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D009369:Neoplasms / Q000209:etiology; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000628:therapy; D016896:Treatment Outcome
D005938:Glucocorticoids