Paroxysmal nocturnal haemoglobinuria

Last reviewed: 23 Apr 2022
Last updated: 20 Sep 2018

Summary

Definition

History and exam

Key diagnostic factors

  • haemoglobinuria
  • Budd-Chiari syndrome
  • thrombosis
More key diagnostic factors

Other diagnostic factors

  • history of aplastic anaemia
  • fatigue
  • anaemia
  • abdominal pain
  • dysphagia and odynophagia
  • erectile dysfunction
  • dyspnoea
  • infections
  • bleeding diathesis
  • neurological signs and symptoms
Other diagnostic factors

Risk factors

  • aplastic anaemia/hypoplastic bone marrow
  • myelodysplasia
More risk factors

Diagnostic investigations

1st investigations to order

  • urine dipstick
  • urine microscopy
  • FBC
  • reticulocyte count
  • serum LDH
  • unconjugated bilirubin
  • D-dimer
More 1st investigations to order

Investigations to consider

  • haptoglobin
  • flow cytometry for GPI anchor or anchored proteins
  • fluorescent aerolysin
  • immunotyping
  • antiglobulin (Coombs) test
  • serum iron, serum ferritin
  • serum creatinine and urea
More investigations to consider

Treatment algorithm

ACUTE

classic PNH (haemolytic anaemia): non-pregnant

classic PNH (haemolytic anaemia): pregnant

PNH in the setting of another specific bone marrow disorder: non-pregnant

PNH in the setting of another specific bone marrow disorder: pregnant with thrombosis

PNH in the setting of another specific bone marrow disorder: pregnant without thrombosis

subclinical PNH: non-pregnant

subclinical PNH: pregnant

ONGOING

following acute clinical PNH with thrombosis: non-pregnant

Contributors

Authors

Ilene Ceil Weitz, MD

Associate Professor of Clinical Medicine

Jane Anne Nohl Division of Hematology

Keck-USC School of Medicine

Los Angeles

CA

Disclosures

ICW receives speaker honoraria from and undertakes consultancy for Alexion Pharmaceuticals.

Acknowledgements

Dr Ilene Ceil Weitz would like to gratefully acknowledge Dr Wendell F. Rosse, the previous contributor to this topic. WFR serves on advisory boards and educational faculties for Alexion Pharmaceuticals.

Peer reviewers

David Dingli, MD, PhD

Associate Professor of Medicine

Mayo Clinic

Rochester

MN

Disclosures

DD declares that he has no competing interests.

Panayiotis D. Ziakas, MD, MSc, PhD

Department of Pathophysiology

Medical School

University of Athens

Athens

Greece

Disclosures

PDZ declares that he has no competing interests.

  • Differentials

    • Autoimmune haemolytic anaemia, warm antibody type
    • Microangiopathic haemolytic anaemia
    • Paroxysmal cold haemoglobinuria
    More Differentials
  • Guidelines

    • Consensus guidelines to detect GPI‐deficient cells in paroxysmal nocturnal hemoglobinuria (PNH) and related disorders: Part 1 – clinical utility
    • The physician's guide to paroxysmal nocturnal hemoglobinuria (PNH)
    More Guidelines
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