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])
Risk factors
- drug or toxin exposure
- paroxysmal nocturnal hemoglobinuria (PNH)
- recent hepatitis
- pregnancy
- autoimmune disease
- family history
Diagnostic tests
1st tests to order
- complete blood count with differential
- reticulocyte count
- bone marrow biopsy and cytogenetic analyses
Tests 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
Treatment algorithm
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.
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