Paroxysmal nocturnal hemoglobinuria
ICD-10: 3A70.0MeSH: D010975ORPHA: 4471 Treatment Available
Overview
Paroxysmal nocturnal hemoglobinuria is an acquired clonal hematopoietic stem cell disorder caused by somatic PIGA mutations, leading to complement-mediated red blood cell destruction. Typical manifestations include hemolytic anemia, hemoglobinuria, thrombosis, bone marrow failure, and fatigue, and the disease can be life-threatening. It is rare, and complement inhibitors have transformed treatment and outcomes.
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| ravulizumab Orphan Cold Chain | Concentrate for solution for infusion | FDA Approved | 5 | — |
Clinical Presentation
Signs and symptoms associated with Paroxysmal nocturnal hemoglobinuria, sourced from HPO and Orphanet clinical annotations.
Abnormal erythrocyte enzyme concentration or activityHemolytic anemiaAnemiaHemoglobinuriaAstheniaThromboembolismReticulocytosisDyspneaHeadacheEpisodic abdominal painDeep venous thrombosisIncreased blood urea nitrogenVenous thrombosisUnconjugated hyperbilirubinemiaHemosiderinuriaChronic kidney diseaseReduced haptoglobin levelIncreased circulating lactate dehydrogenase concentrationConjunctival icterusErythromelalgiaDecreased circulating iron concentrationChest painRenal insufficiencyProteinuriaImpotenceHypertensionJaundiceLethargyStrokeMyocardial infarctionThrombocytopeniaPancytopeniaDecreased total leukocyte countAcute kidney injuryPulmonary embolismBudd-Chiari syndromeArterial thrombosisErythroid hyperplasiaMesenteric venous thrombosisOdynophagiaRenal Fanconi syndromeDysphagiaGlycosuriaEsophageal spasms
Classification & Codes
ICD-10 Code
3A70.0MeSH Code
D010975Orphanet Code
ORPHA:447Paroxysmal nocturnal hemoglobinuria
| ICD-10 | 3A70.0 |
| MeSH | D010975 |
| Orphanet | ORPHA:447 |
| Treatments | 1 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated7/24/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO