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Aplastic anemia in adults

Última revisão: 30 Apr 2025
Última atualização: 08 Apr 2022

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])
Detalhes completos

Fatores de risco

  • drug or toxin exposure
  • paroxysmal nocturnal hemoglobinuria (PNH)
  • recent hepatitis
  • pregnancy
  • autoimmune disease
  • family history
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • complete blood count with differential
  • reticulocyte count
  • bone marrow biopsy and cytogenetic analyses
Detalhes completos

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
Detalhes completos

Algoritmo de tratamento

AGUDA

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

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

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.
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