Pnh
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"paroxysmal nocturnal hemoglobinuria"
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paroxysmal nocturnal hemoglobinuria diagnosis treatment complement inhibitor guidelines
PNH usually means paroxysmal nocturnal hemoglobinuria: a rare, acquired blood stem-cell disorder.
- A mutation in PIGA causes blood cells to lack protective surface proteins, especially CD55 and CD59.
- This leaves red cells vulnerable to complement-mediated hemolysis.
- Common features: fatigue and anemia, dark or cola-colored urine, abdominal pain, shortness of breath, swallowing difficulty, erectile dysfunction, low blood counts, and an unusually high risk of blood clots.
- It may occur alone or alongside aplastic anemia or other bone-marrow failure syndromes.
- Diagnosis is by high-sensitivity flow cytometry showing deficient GPI-linked proteins on granulocytes and monocytes.
- Treatment depends on severity: supportive care and treatment of marrow failure when present; complement inhibitors such as eculizumab, ravulizumab, and, in some settings, proximal complement inhibitors can control hemolysis. Stem-cell transplant is generally reserved for severe marrow failure or selected refractory cases. A PNH diagnosis and treatment consensus outlines this approach.
Urgent assessment is needed for chest pain, sudden breathlessness, severe abdominal pain, neurological symptoms, leg swelling, or new dark urine with marked weakness, because PNH can cause dangerous thrombosis or severe hemolysis.
Recent reviews include a 2024 systematic review of danicopan (PMID 39453029) and a 2025 pregnancy-focused review (PMID 40244439); these do not change the core diagnosis above, but treatment choice should be individualized by a hematologist.
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