Paroxysmal nocturnal hemoglobinuria (PNH)

PNH is a rare disease in which the body’s red blood cells are prematurely destroyed. PNH is an acquired, not inherited, hematopoietic stem cell disorder, caused by mutation of the PIGA gene which causes defective blood cells to multiply. This abundance of defective cells interferes with the functioning of normal cells, and leads to their destruction. 

Darker urine, erectile dysfunction/male impotence, severe bone marrow dysfunction, blood clots, acute and chronic renal (kidney) disease, rapid heart beat, chest pains, difficulty breathing when exercising, difficulty swallowing (dysphagia), painful abdominal contractions, esophageal spasms, fatigue, and headaches.

Hemoglobinuria, thromboses, thrombocytopenia, bone marrow dysfunction, pancytopenia, leukemia (rarely), Budd-Chiari syndrome, refractory anemia, aplastic anemia, and myelodysplastic syndrome.

Females are believed to be affected at slightly higher rates. While the disease can impact someone of any age, the median age is 30-40.

• The complement alternative pathway in paroxysmal nocturnal hemoglobinuria: From a pathogenic mechanism to a therapeutic target (2023)
• Pegcetacoplan versus eculizuman in paroxysmal nocturnal hemoglobinuria (2021)
• Safety and efficacy of pegcetacoplan in paroxysmal nocturnal hemoglobinuria (2022)
• The complement C5 inhibitor crovalimab in paroxysmal nocturnal hemoglobinuria (2020)