What is PNH?
Paroxysmal nocturnal haemoglobinuria (PNH) is a rare, chronic, progressive, and potentially life-threatening blood disorder. PNH is characterised by red blood cell (RBC) destruction within blood vessels (also known as intravascular haemolysis, or IVH) and white blood cell and platelet activation, which may lead to blood clots (thrombosis).
PNH is caused by an acquired genetic mutation (not inherited) that may happen any time after birth and results in the production of abnormal blood cells that are missing important protective blood cell surface proteins. These missing proteins enable the complement system to ‘attack’ and destroy or activate these abnormal blood cells.1,2
Diagnosed prevalence in adults is:
Reference.4
In US
In Europe
In Japan
PNH can occur in children and adults at any age; the average age of diagnosis is in the 30s.5
PNH affects both men and women and people of every racial and ethnic group.5
Living with PNH can be debilitating, and signs and symptoms may include:
Reference.5
Blood clots (thrombosis)
Abdominal pain
Difficulty swallowing
Erectile dysfunction
Shortness of breath
Excessive fatigue
Anaemia
Dark-colored urine (haemoglobinuria)
PNH can lead to thrombosis, which can occur in blood vessels throughout the body, and/or damage to other vital organs, such as kidneys and lungs. This can result in an overall impaired quality of life and potentially premature death. 1,5
References
- Jang JH, et al. Impact of Lactate Dehydrogenase and Hemoglobin Levels on Clinical Outcomes in Patients With Paroxysmal Nocturnal Hemoglobinuria: Results From a Korean PNH Registry. J Korean Med Sci. 2024 Mar 4;39(8):e81.
- Rother RP, et al. The Clinical Sequelae of Intravascular Hemolysis and Extracellular Plasma Hemoglobin. JAMA. 2005 Apr 6;293(13):1653-62.
- Cedzyński M, et al. Editorial: The Role of Complement in Health and Disease. Front Immunol. 2019;10:1869.
- AstraZeneca Data on File - Epidemiology estimates are composed of a triangulation of different data sources including Data Monitor, Decision Resources Group, Kantar Health, and internal input. (Updated as of May 2024).
- Shah N, et al. Paroxysmal Nocturnal Hemoglobinuria. StatPearls. 2023.
- Mitchell R, et al. Path to Diagnosis of Paroxysmal Nocturnal Hemoglobinuria: The Results of an Exploratory Study Conducted by the Aplastic Anemia and MDS International Foundation and the National Organization for Rare Disorders Utilizing an Internet-Based Survey. SM Clin Med Oncol. 2017; 1(1):1001.
- Dezern AE, Borowitz MJ. ICCS/ESCCA Consensus Guidelines to detect GPI-deficient cells in Paroxysmal Nocturnal Hemoglobinuria (PNH) and related Disorders Part 1 - Clinical Utility. Cytometry Part B. 2018; 94B:16-22.
- Sutherland DR, et al. ICCS/ESCCA Consensus Guidelines to detect GPI-deficient cells in Paroxysmal Nocturnal Hemoglobinuria (PNH) and related Disorders Part 2 - Reagent Selection and Assay Optimization for High-Sensitivity Testing. Cytometry Part B. 2018; 94B: 23-48.