Aplastic anaemia is a form of pancytopenia, most often idiopathic.
May present with sequelae of neutropenia (infections), anaemia (fatigue, pallor, dyspnoea, tachycardia), or thrombocytopenia (bleeding, bruising).
Laboratory findings may include leukopenia, neutropenia, anaemia, and thrombocytopenia. Bone marrow biopsy shows hypocellular marrow without abnormal cells.
Treatment includes immunosuppressive therapy and/or eltrombopag, or allogeneic stem cell transplantation.
Aplastic anaemia (AA) is defined by pancytopenia with hypocellular marrow and no abnormal cells. At least two of the following peripheral cytopenias must be present: haemoglobin <100 g/L (<10 g/dL), platelets <50 × 10⁹/L, absolute neutrophil count <1.5 × 10⁹/L. Bone marrow should show hypocellularity without evidence of significant dysplasia, blasts, fibrosis, or other abnormal infiltrate.
History and exam
Key diagnostic factors
- presence of risk factors
Other diagnostic factors
- history of recurrent infection
- history of bleeding or easy bruising
- persistent warts
- hearing loss or deafness
- short stature, pigmentation abnormalities, or urogenital abnormalities
- nail malformations, reticular rash, oral leukoplakia, or epiphora
- premature hair loss/premature greying
- extensive dental caries or tooth loss
- skeletal dysplasia
- non-tuberculous mycobacterial infections
- pulmonary alveolar proteinosis
- congenital lymphoedema, Emberger syndrome
- immunodeficiency (DCML [dendritic cell, monocyte, B cell, and NK cell deficiency])
- drug or toxin exposure
- paroxysmal nocturnal haemoglobinuria (PNH)
- recent hepatitis
- autoimmune disease
- family history
1st investigations to order
- full blood count with differential
- reticulocyte count
- bone marrow biopsy and cytogenetic analyses
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
non-severe acquired disease
severe/very severe acquired disease
inherited marrow failure syndrome
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
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.
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.
Christoph Pechlaner, MD
Associate Professor of Medicine
Innsbruck Medical University
CP declares that he has no competing interests.
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