PNH diagnosis journey

PNH diagnosis journey

Lack of awareness of PNH often results in a prolonged diagnosis journey or misdiagnosis.1


Most people living with PNH will present to primary care. Primary care physicians will usually eliminate common diagnoses based on patient symptoms before eventually referring them to a haematologist. Although, around 15% of people living with PNH present directly to emergency medicine physicians (for example following a thrombotic event) and will then undergo a similar process of eliminating common conditions before referral to a haematologist.2

PNH Patient Journey

The PNH Patient Journey – from the presentation of the first symptom to decision to treat1

A diagnosis of PNH is confirmed with flow cytometry that determines the proportion of blood cells affected by PNH.3,4
Following confirmed diagnosis, treatment is initiated by the haematologist to prevent life-threatening thrombosis.3

  1. Partnering4PNH. A global policy consensus paper to address remaining unmet medical needs for people living with PNH, Nov. 2022.
  2. M. Bektas, C. Copley-Merriman, S. Khan, S. P. Sarda, and J. M. Shammo, Paroxysmal nocturnal hemoglobinuria: patient journey and burden of disease., vol. 26, pp. S8–S14, Dec. 2020, doi: 10.18553/JMCP.2020.26.12-B.S8.
  3. N. S. Young, G. Meyers, H. Schrezenmeier, P. Hillmen, and A. Hill. The Management of Paroxysmal Nocturnal Hemoglobinuria: Recent Advances in Diagnosis and Treatment and New Hope for Patients. Semin Hematol, vol. 46, no. SUPPL. 1, pp. S1–S16, Jan. 2009, doi:10.1053/J.SEMINHEMATOL.2008.11.004.
  4. M. J. Borowitz et al. Guidelines for the diagnosis and monitoring of paroxysmal nocturnal hemoglobinuria and related disorders by flow cytometry. Cytometry B Clin Cytom, vol. 78B, no. 4, pp. 211–230, Jul. 2010, doi: 10.1002/CYTO.B.20525.
  5. L. Luzzatto and J. Makani. Treating Rare Diseases in Africa: The Drugs Exist but the Need Is Unmet. Front Pharmacol, vol. 12, Jan. 2021, doi: 10.3389/FPHAR.2021.770640.

Job code: NP-295688 | Date of preparation: April 2024

Intended for healthcare professional only