Resumo
Definição
História e exame físico
Outros fatores diagnósticos
- 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 cell, and NK cell deficiency])
Fatores de risco
- drug or toxin exposure
- paroxysmal nocturnal hemoglobinuria (PNH)
- recent hepatitis
- pregnancy
- autoimmune disease
- family history
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- complete blood count with differential
- reticulocyte count
- bone marrow biopsy and cytogenetic analyses
Investigações a serem consideradas
- serum B12 and folate levels
- HIV testing
- liver function tests (LFTs)
- autoantibody screen
- flow cytometry for glycosylphosphatidylinositol (GPI)-anchored proteins
- chest x-ray
- abdominal ultrasound
- appropriate genetic tests
- computed tomography scan
Algoritmo de tratamento
non-severe acquired disease
severe/very severe acquired disease
inherited marrow failure syndrome
Colaboradores
Autores
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
Declarações
AGK is on the Speakers' Panel/Advisory Board/has consulted for Novartis, Pfizer, Alexion, Roche, Ra Pharma, BioCryst, and Celgene/BMS. He is an author of a reference 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.
Agradecimentos
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.
Revisores
Christoph Pechlaner, MD
Associate Professor of Medicine
Innsbruck Medical University
Innsbruck
Austria
Declarações
CP declares that he has no competing interests.
Referências
Principais artigos
Townsley DM, Dumitriu B, Young NS. Bone marrow failure and the telomeropathies. Blood. 2014 Oct 30;124(18):2775-83.Texto completo Resumo
Bluteau O, Sebert M, Leblanc T, et al. A landscape of germ line mutations in a cohort of inherited bone marrow failure patients. Blood. 2018 Feb 15;131(7):717-32. Resumo
Kordasti S, Costantini B, Seidl T, et al. Deep phenotyping of Tregs identifies an immune signature for idiopathic aplastic anemia and predicts response to treatment. Blood. 2016 Sep 1;128(9):1193-205.Texto completo Resumo
Killick SB, Bown N, Cavenagh J, et al; British Society for Standards in Haematology. Guidelines for the diagnosis and management of adult aplastic anaemia. Br J Haematol. 2016 Jan;172(2):187-207.Texto completo Resumo
Bacigalupo A, Socié G, Hamladji RM, et al. Current outcome of HLA identical sibling versus unrelated donor transplants in severe aplastic anemia: an EBMT analysis. Haematologica. 2015 May;100(5):696-702.Texto completo Resumo
Artigos de referência
Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
Diagnósticos diferenciais
- Radiation injury
- Chemotherapy
- HIV infection
Mais Diagnósticos diferenciaisDiretrizes
- Monitoring and management of iron overload in patients with haemoglobinopathies and rare anaemias
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