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Paroxysmal Nocturnal Hemoglobinuria: A Diagnostic "Zero-Sum-Game"
Qaisar Farooq1, Muhammad W Saleem1, Zakir Ullah Khan1
1Internal Medicine, Hayatabad Medical Complex Peshawar, Peshawar, PAK.
Cureus
|January 11, 2021
Summary
Paroxysmal nocturnal hemoglobinuria (PNH), a rare hemolytic anemia, results from a PIG-A gene mutation. This case highlights treatment challenges in resource-limited settings due to eculizumab
Area of Science:
- Hematology
- Genetics
- Immunology
Background:
- Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disorder.
- It stems from an acquired PIG-A gene mutation.
- This mutation causes complement-mediated red blood cell destruction.
Observation:
- A case of PNH in a 28-year-old male is presented.
- The patient was diagnosed during anemia workup.
- The case occurred in a resource-poor setting in Pakistan.
Findings:
- PNH involves intravascular hemolysis due to complement-mediated attack on red blood cells.
- The PIG-A mutation impairs the protective function of CD55 and CD59.
- Eculizumab is the recommended treatment but faces accessibility issues.
Implications:
- Understanding PNH pathogenesis is crucial for diagnosis and management.
- The case highlights challenges in accessing advanced therapies in resource-limited settings.
- Further research may explore cost-effective PNH treatment strategies.
