小结
定义
病史和体格检查
其他诊断因素
- history of recurrent infection
- fatigue
- pallor
- history of bleeding or easy bruising
- tachycardia
- dyspnea
- persistent warts
- hearing loss or deafness
- short stature, pigmentation abnormalities, or urogenital abnormalities
- nail malformations, reticular rash, oral leukoplakia, or epiphora
- osteoporosis
- premature hair loss/graying
- hyperhidrosis
- dysphagia
- extensive dental caries or tooth loss
- steatorrhea
- skeletal dysplasia
- monocytopenia
- nontuberculous mycobacterial infections
- pulmonary alveolar proteinosis
- congenital lymphedema, Emberger syndrome
- immunodeficiency (DCML [dendritic cell, monocyte, B and NK lymphoid deficiency])
危险因素
- drug or toxin exposure
- paroxysmal nocturnal hemoglobinuria (PNH)
- recent hepatitis
- pregnancy
- autoimmune disease
- family history
诊断性检查
首要检查
- complete blood count and peripheral blood smear
- reticulocyte count
- bone marrow biopsy and cytogenetic analyses
需考虑的检查
- serum B12 and folate levels
- virus testing
- liver function tests (LFTs)
- autoantibody screen
- flow cytometry for glycosylphosphatidylinositol-anchored proteins
- chest x-ray
- abdominal ultrasound
- appropriate genetic tests
- computed tomography scan
治疗流程
non-severe acquired disease
severe/very severe acquired disease
inherited marrow failure syndrome
撰稿人
作者
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
利益声明
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.
鸣谢
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.
同行评议者
Christoph Pechlaner, MD
Associate Professor of Medicine
Innsbruck Medical University
Innsbruck
Austria
利益声明
CP declares that he has no competing interests.
参考文献
关键文献
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.全文 摘要
Townsley DM, Dumitriu B, Young NS. Bone marrow failure and the telomeropathies. Blood. 2014 Oct 30;124(18):2775-83.全文 摘要
参考文献
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
鉴别诊断
- Radiation injury
- Chemotherapy
- HIV infection
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- 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
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