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 investigations
1st investigations to order
- complete 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
Treatment algorithm
Contributors
Authors
Judith C. W. Marsh, MD, FRCP, FRCPath
Professor of Haematology
Consultant Haematologist
Department of Haematological Medicine
King's College Hospital NHS Foundation Trust
King’s College London
London
UK
Disclosures
JCWM has received fees for consulting for Novartis Global, Amgen, 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 a research grant from GSK/Novartis awaiting final approval; and has received travel expenses from Novartis and Adienne to attend meetings.
Austin G. Kulasekararaj, MD, MRCP, FRCPath
Consultant Haematologist
Department of Haematological Medicine
King's College Hospital NHS Foundation Trust
London
UK
Disclosures
AGK is on the Speakers' Panel and Advisory Board for Novartis, Pfizer, Alexion, and Celgene. He is an author of a reference cited in the monograph.
Acknowledgements
Professor Marsh and Dr Kulasekararaj would like to gratefully acknowledge the assistance of Dr Ziyi Lim, Dr Philippe Armand, and Professor Joseph H. Antin, previous contributors to this monograph. ZL, PA, and JHA declare that they have no competing interests.
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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