Moustafa Abdou: Paroxysmal Nocturnal Hemoglobinuria From a Rare Disease to a Treatable Condition
Moustafa Abdou, Author and Founder of AskHematologist.com, shared a post on LinkedIn:
”Paroxysmal Nocturnal Hemoglobinuria (PNH)
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired clonal hematopoietic stem cell disorder characterized by complement-mediated hemolysis, a high risk of thrombosis, and varying degrees of bone marrow failure. It results from an acquired mutation in the PIGA gene, leading to deficiency of GPI-anchored proteins (particularly CD55 and CD59), rendering blood cells highly susceptible to complement-mediated destruction.
Clinically, patients may present with chronic intravascular hemolysis, hemoglobinuria, fatigue, abdominal pain, and potentially life-threatening thrombotic events, often at unusual sites such as hepatic, portal, and cerebral veins. Importantly, thrombosis remains the leading cause of mortality in PNH.
Diagnosis relies on high-sensitivity flow cytometry demonstrating deficiency of GPI-anchored proteins, with FLAER-based assays offering increased diagnostic precision.
The management of PNH has evolved remarkably over the past decade. Complement inhibitors have transformed outcomes, with C5 inhibitors such as eculizumab and ravulizumab effectively controlling intravascular hemolysis. However, some patients experience ongoing extravascular hemolysis due to C3-mediated opsonization. More recently, proximal complement inhibitors, including pegcetacoplan (C3 inhibitor) and iptacopan (factor B inhibitor), have expanded therapeutic options, particularly for patients with suboptimal response to C5 blockade.
These advances highlight the important role of ongoing innovation across the pharmaceutical and diagnostics landscape in improving outcomes for patients with rare hematologic diseases.
Patients receiving complement inhibitors require appropriate vaccination, particularly against Neisseria meningitidis, due to the increased risk of severe infections. While supportive care and anticoagulation remain important in selected cases, allogeneic stem cell transplantation remains the only curative option in carefully selected patients.
Overall, PNH has evolved from a life-threatening disorder into a manageable chronic condition, reflecting significant progress in targeted therapy and translational hematology.”
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