Last reviewed: November 2017
Last updated: August  2016

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors

Other diagnostic factors

  • hx of recurrent infection
  • fatigue
  • pallor
  • hx of bleeding or easy bruising
  • tachycardia
  • dyspnoea
  • short stature, pigmentation abnormalities, conductive hearing loss, or urogenital abnormalities
  • nail malformations, reticular rash, oral leukoplakia, or epiphora
  • osteoporosis
  • premature hair loss/premature greying
  • hyperhidrosis
  • dysphagia
  • extensive dental caries or tooth loss
  • steatorrhoea
  • skeletal dysplasia
  • monocytopenia
  • non-tuberculous mycobacterial infections
  • pulmonary alveolar proteinosis
  • congenital lymphoedema, deafness, Emberger's syndrome
  • immunodeficiency (DCML-dendritic cell, monocyte, B cell, and NK cell deficiency)

Risk factors

  • drug or toxin exposure
  • paroxysmal nocturnal haemoglobinuria (PNH)
  • recent hepatitis
  • pregnancy
  • autoimmune disease
  • family hx

Diagnostic investigations

1st investigations to order

  • FBC with differential
  • reticulocyte count
  • bone marrow biopsy and cytogenetic analyses
Full details

Investigations to consider

  • serum B12 and folate levels
  • HIV testing
  • LFTs
  • autoantibody screen
  • flow cytometry for glycosylphosphatidylinositol (GPI)-anchored proteins
  • urine haemosiderin
  • CXR
  • abdominal ultrasound
  • appropriate genetic tests
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

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.

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.

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 VIEW ALL

Associate Professor of Medicine

Innsbruck Medical University

Innsbruck

Austria

Disclosures

CP declares that he has no competing interests.

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