DISEASE SCANNER
Global Incurable Diseases Tracker
Paroxysmal Nocturnal Hemoglobinuria (PNH)
A rare acquired hematopoietic stem cell disorder causing hemolytic anemia, thrombosis, and bone marrow failure due to PIGA gene mutation. Red blood cells lack CD55 and CD59, making them susceptible to complement-mediated lysis.
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Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Complete blood count
- 2Peripheral smear
- 3Bone marrow biopsy
- 4Coagulation studies
- 5Hemoglobin electrophoresis
- 6Flow cytometry
- 7Genetic testing
Prognosis
Untreated classic PNH has median survival 10-15 years; thrombosis is leading cause of death. Eculizumab/ravulizumab dramatically improve survival to near-normal by preventing hemolysis and thrombosis. Complement inhibition requires meningococcal vaccination and prophylaxis. Bone marrow failure may require immunosuppression or transplant. Transformation to MDS or AML occurs in 5-10%. Regular monitoring of LDH, hemoglobin, and thrombosis risk essential.
Prevention
- Genetic counseling
- Nutritional adequacy
- Avoidance of triggers
- Vaccinations
- Regular monitoring
- Family screening
Research Status
Eculizumab and ravulizumab (C5 inhibitors) revolutionized treatment. Pegcetacoplan (C3 inhibitor) approved. Allogeneic stem cell transplant curative. Anticoagulation for thrombosis. Iron and folate supplementation.
Affected Countries
Sources
- https://www.hematology.org
- https://medlineplus.gov/blooddiseases.html
- https://www.hematology.org/education/patients
- https://www.ncbi.nlm.nih.gov/books
- https://rarediseases.org/rare-diseases
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.