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Paroxysmal nocturnal hemoglobinuria

July 25, 2023 — published by Pyramidale Communication

At Pyramidale Communication Agency, we leverage our expertise in numerous rare diseases. One of these is paroxysmal nocturnal hemoglobinuria (PNH).

Key numbers for Paroxysmal Nocturnal Hemoglobinuria (PNH)

700 individuals suffer from PNH in France. ¹
Diagnostic wandering may last up to 5 years. ²
PNH is generally diagnosed in young adults between 30 and 40 years of age. ³
Without treatment, 25% of PNH patients die within 10 years, according to the French Society of Hematology registry, which included 454 patients between 1950 and 2005. ⁴

What is Paroxysmal Nocturnal Hemoglobinuria (PNH)?

PNH, also known as Marchiafava–Micheli syndrome, is a rare disease characterized by the destruction of red blood cells, a process known as hemolysis. This hemolysis leads to the massive release of hemoglobin, which is excreted in the urine, causing hemoglobinuria, reaching its paroxysm during acute nocturnal episodes.

It is a genetic disease resulting from a mutation in the PIG-A gene, which is essential for the synthesis of the glycosylphosphatidylinositol (GPI) anchor. This mutation is acquired, meaning that it cannot be passed on to offspring.

The GPI anchor enables the attachment of various proteins (including CD55 and CD59, which are complement-inhibiting proteins) to the surface of red blood cells. A deficiency in GPI leads to a reduced number of red blood cells in the blood, resulting in hemolytic anemia.

The frequency and severity of symptoms vary from patient to patient. The main symptoms are hemoglobinuria and anemia, which can cause severe fatigue, pale skin, and shortness of breath during physical activity.

Patients affected by PNH are at a high risk of thrombosis.

The diagnosis of PNH is based on clinical examination and thorough blood analysis using flow cytometry.

To date, the only curative treatment is bone marrow transplantation, which is reserved for patients with severe or aplastic forms of PNH.

Patients with symptomatic hemolysis or other cytopenias be prescribed medications to control disease manifestations.

Would you like to learn more about PNH?

Click here to explore the season dedicated to PNH on our RARE à l’écoute medical Podcast.

Listen to expert interviews with Prof. Régis Peffault de Latour, Dr. Flore Sicre de Fontbrune, and Dr. Louis Terriou, as well as a patient testimonial:

“The disease manifests as hemolytic anemia and therefore hemoglobinuria, along with fatigue and pallor, as well as symptoms related to hemolytic crises including abdominal pain, nausea, and vomiting.”

Prof. R. Peffault de Latour – Hematologist

You can also read our article on this condition by clicking here.

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References:

Association HPN France – Aplasie Médullaire – HPN-AM Accueil : https://hpnfrance.com/ (site consulté le 23/06/2023).
Petropoulou AD, et al. ECLIPSE: a French Study Concerning the Diagnosis of Paroxysmal Nocturnal Hemoglobinuria (PNH). Blood. 2010;116(21):5134.
Röth A, et al. Screening and diagnostic clinical algorithm for paroxysmal nocturnal hemoglobinuria: Expert consensus. Eur J Haematol. 2018 Jul;101(1):3-11.
de Latour RP, et al. Paroxysmal nocturnal hemoglobinuria: natural history of disease subcategories. Blood. 2008 Oct 15;11(8):3099-106.
HAS, Protocole National de Diagnostic et de Soins (PNDS) – Aplasies médullaires acquises et constitutionnelles. 01/03/23.
Association HPN France – Aplasie Médullaire – l’HPN : https://hpnfrance.com/lhpn/ (site consulté le 26/06/2023).
Encyclopédie Orphanet Grand Public – Hémoglobinurie paroxystique nocturne : https://www.orpha.net/data/patho/Pub/fr/HemoglobinurieParoxystiqueNocturne-FRfrPub21v02.pdf