Aplastic anemia in adults

Last reviewed: 28 Aug 2022
Last updated: 08 Apr 2022

Summary

Definition

History and exam

Other diagnostic factors

  • 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])
Other diagnostic factors

Risk factors

  • drug or toxin exposure
  • paroxysmal nocturnal hemoglobinuria (PNH)
  • recent hepatitis
  • pregnancy
  • autoimmune disease
  • family history
More risk factors

Diagnostic investigations

1st investigations to order

  • complete blood count with differential
  • reticulocyte count
  • bone marrow biopsy and cytogenetic analyses
More 1st investigations to order

Investigations to consider

  • 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
More investigations to consider

Treatment algorithm

ACUTE

non-severe acquired disease

severe/very severe acquired disease

inherited marrow failure syndrome

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 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.

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.

  • Differentials

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  • Guidelines

    • Monitoring and management of iron overload in patients with haemoglobinopathies and rare anaemias
    • Guidelines for the diagnosis and management of acquired aplastic anaemia
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