Summary
Definition
History and exam
Key diagnostic factors
- presença de fatores de risco
Other diagnostic factors
- história de infecção recorrente
- fadiga
- palidez
- história de sangramento ou facilidade para manifestar hematomas
- taquicardia
- dispneia
- verrugas persistentes
- perda auditiva/surdez
- baixa estatura, anormalidade da pigmentação ou anomalias urogenitais
- malformações nas unhas, erupção cutânea reticular, leucoplasia oral ou epífora
- osteoporose
- queda/embranquecimento prematuros dos cabelos
- hiperidrose
- disfagia
- extensas cáries ou perdas dentárias
- esteatorreia
- displasia esquelética
- monocitopenia
- infecções micobacterianas não tuberculosas
- proteinose alveolar pulmonar
- linfedema congênito, síndrome de Emberger
- imunodeficiência (DCML [deficiência de células dendríticas, monócitos, linfoides B e NK])
Risk factors
- exposição a medicamentos ou toxinas
- hemoglobinúria paroxística noturna (HPN)
- hepatite recente
- gestação
- doença autoimune
- história familiar
Diagnostic investigations
1st investigations to order
- hemograma completo e esfregaço de sangue periférico
- contagem de reticulócitos
- biópsia da medula óssea e análises citogenéticas
Investigations to consider
- níveis séricos de B12 e folato
- teste viral
- testes da função hepática
- rastreamento de autoanticorpos
- citometria de fluxo para proteínas ancoradas por glicosilfosfatidilinositol
- radiografia torácica
- ultrassonografia abdominal
- testes genéticos apropriados
- tomografia computadorizada
Treatment algorithm
doença adquirida não grave
doença adquirida grave/muito grave
síndrome de falência medular hereditária
Contributors
Authors
Austin G. Kulasekararaj, MD, MRCP, FRCPath
Consultant Haematologist and Honorary Senior Clinical Lecturer
Department of Haematological Medicine
King's College Hospital NHS Foundation Trust and King’s College London
London
UK
Disclosures
AGK reports consulting fees or honoraria for lectures, presentations, speakers’ bureaus, and advisory boards from Agios, Alexion, Amgen, Biocryst, Celgene/Bristol-Myers Squibb, Novartis, Pfizer, NovoNordisk, Roche, Samsung, and Sobi. He is an author of references cited in this topic. AGK is the unpaid chairman of the writing committee of the British Society of Haematology guidelines on diagnosis and management of adult aplastic anaemia.
Acknowledgements
Dr Kulasekararaj would like to gratefully acknowledge the assistance of Professor Judith C. W. Marsh, Dr Ziyi Lim, Dr Philippe Armand, and Professor Joseph H. Antin, previous contributors to this topic. ZL, PA, and JHA declared that they had no competing interests. JCWM has received fees for consulting for Novartis Global, Amgen, Alexion, Jazz Pharmaceuticals, and GSK and has also consulted for Pfizer and Sanofi; received a fee for lectures given for Novartis and has also given lectures for Alexion and Sanofi; was awarded a research grant from Sanofi for King’s College London and has received a research grant from Novartis Global; and has received travel expenses from Novartis and Adienne to attend meetings.
Peer reviewers
Christoph Pechlaner, MD
Associate Professor of Medicine
Innsbruck Medical University
Innsbruck
Austria
Disclosures
CP declares that he has no competing interests.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
References
Key articles
Kulasekararaj A, Cavenagh J, Dokal I, et al. Guidelines for the diagnosis and management of adult aplastic anaemia: a British Society for Haematology Guideline. Br J Haematol. 2024 Mar;204(3):784-804.Full text Abstract
Townsley DM, Dumitriu B, Young NS. Bone marrow failure and the telomeropathies. Blood. 2014 Oct 30;124(18):2775-83.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Lesão por radiação
- Quimioterapia
- Infecção pelo vírus da imunodeficiência humana (HIV)
More DifferentialsGuidelines
- Guidelines for the diagnosis and management of adult aplastic anaemia: a British Society for Haematology Guideline
- Monitoring and management of iron overload in patients with haemoglobinopathies and rare anaemias
More Guidelines
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