Overview
What is paroxysmal nocturnal hemoglobinuria (PNH)?
What is paroxysmal nocturnal hemoglobinuria (PNH)?
What does the term "nocturnal" refer to in paroxysmal nocturnal hemoglobinuria (PNH)?
What are the underlying pathophysiologic events of paroxysmal nocturnal hemoglobinuria (PNH)?
How is paroxysmal nocturnal hemoglobinuria (PNH) diagnosed?
What are the treatment options for paroxysmal nocturnal hemoglobinuria (PNH)?
How was paroxysmal nocturnal hemoglobinuria (PNH) previously classified erroneously?
What is the pathophysiology of paroxysmal nocturnal hemoglobinuria (PNH)?
What are the symptoms of paroxysmal nocturnal hemoglobinuria (PNH)?
What are the renal effects of paroxysmal nocturnal hemoglobinuria (PNH)?
What is the pathophysiology of thrombophilia in paroxysmal nocturnal hemoglobinuria (PNH)?
What are the symptoms of venous thrombosis in paroxysmal nocturnal hemoglobinuria (PNH)?
What are the effects of deficient hematopoiesis in paroxysmal nocturnal hemoglobinuria (PNH)?
What is the pathogenesis of paroxysmal nocturnal hemoglobinuria (PNH)?
What causes paroxysms in paroxysmal nocturnal hemoglobinuria (PNH)?
What is the most common cause of death in paroxysmal nocturnal hemoglobinuria (PNH)?
What causes thrombosis in patients with paroxysmal nocturnal hemoglobinuria (PNH)?
What causes paroxysmal nocturnal hemoglobinuria (PNH)?
What is the clinical pathology in paroxysmal nocturnal hemoglobinuria (PNH)?
What is the prevalence of paroxysmal nocturnal hemoglobinuria (PNH) in the US?
What is the global prevalence of paroxysmal nocturnal hemoglobinuria (PNH)?
What is the mortality rate for paroxysmal nocturnal hemoglobinuria (PNH)?
What are the frequently reported symptoms of paroxysmal nocturnal hemoglobinuria (PNH)?
What is the effect of paroxysmal nocturnal hemoglobinuria (PNH) on quality of life?
What is the main cause of death in patients with paroxysmal nocturnal hemoglobinuria (PNH)?
What is the median survival in patients with paroxysmal nocturnal hemoglobinuria (PNH)?
What are the racial predilections of paroxysmal nocturnal hemoglobinuria (PNH)?
What are the ethnic predilections of paroxysmal nocturnal hemoglobinuria (PNH) in the US?
How does the prevalence of paroxysmal nocturnal hemoglobinuria (PNH) vary by sex?
How does the prevalence of paroxysmal nocturnal hemoglobinuria (PNH) vary by age?
Presentation
What is the classic symptom of paroxysmal nocturnal hemoglobinuria (PNH)?
How is paroxysmal nocturnal hemoglobinuria (PNH) categorized?
What are the symptoms of hemolytic anemia in paroxysmal nocturnal hemoglobinuria (PNH)?
What are the signs and symptoms of thrombosis in paroxysmal nocturnal hemoglobinuria (PNH)?
What are the symptoms of Budd-Chiari syndrome in paroxysmal nocturnal hemoglobinuria (PNH)?
What are the symptoms of abdominal vein thrombosis in paroxysmal nocturnal hemoglobinuria (PNH)?
What are the symptoms of cerebral vein thrombosis in paroxysmal nocturnal hemoglobinuria (PNH)?
What are the symptoms of dermal vein thrombosis in paroxysmal nocturnal hemoglobinuria (PNH)?
What are the symptoms of deficient hematopoiesis in paroxysmal nocturnal hemoglobinuria (PHN)?
What are less common symptoms of paroxysmal nocturnal hemoglobinuria (PNH)?
What are the physical findings characteristic of paroxysmal nocturnal hemoglobinuria (PNH)?
DDX
When should paroxysmal nocturnal hemoglobinuria (PNH) be suspected?
Which symptoms require repeated testing for paroxysmal nocturnal hemoglobinuria (PNH)?
What is the prevalence of severe aplastic anemia in paroxysmal nocturnal hemoglobinuria?
What are the differential diagnoses for Paroxysmal Nocturnal Hemoglobinuria?
Workup
What are the principal studies used to diagnosis paroxysmal nocturnal hemoglobinuria (PNH)?
How is hemosiderin identified in paroxysmal nocturnal hemoglobinuria (PNH)?
How is venous thrombosis evaluated in paroxysmal nocturnal hemoglobinuria (PNH)?
What is the role of lab studies in the workup of paroxysmal nocturnal hemoglobinuria (PNH)?
What is the role of flow cytometry in the workup of paroxysmal nocturnal hemoglobinuria (PNH)?
How is flow cytometry used to diagnose paroxysmal nocturnal hemoglobinuria (PNH)?
What is the role of immunotyping in the workup of paroxysmal nocturnal hemoglobinuria (PNH)?
What is the role of imaging studies in the workup of paroxysmal nocturnal hemoglobinuria (PNH)?
What is the role of MRI in the workup of paroxysmal nocturnal hemoglobinuria (PNH)?
Treatment
How is paroxysmal nocturnal hemoglobinuria (PNH) treated?
How is bone marrow hypoplasia treated in paroxysmal nocturnal hemoglobinuria (PNH)?
How is thromboembolism treated in paroxysmal nocturnal hemoglobinuria (PNH)?
What is the role of corticosteroids in the treatment of paroxysmal nocturnal hemoglobinuria (PNH)?
Which treatments are under investigation for paroxysmal nocturnal hemoglobinuria (PNH)?
How are kidney complications of paroxysmal nocturnal hemoglobinuria (PNH) treated?
What is the role of complement inhibition in the treatment of paroxysmal nocturnal hemoglobinuria?
What is the role of eculizumab in treatment of paroxysmal nocturnal hemoglobinuria (PNH)?
What is the role of ravulizumab in the treatment of paroxysmal nocturnal hemoglobinuria (PNH)?
What is the role of pegcetacoplan in the treatment of paroxysmal nocturnal hemoglobinuria (PNH)?
What are the components of anemia in paroxysmal nocturnal hemoglobinuria (PNH)?
How is anemia managed in paroxysmal nocturnal hemoglobinuria (PNH)?
What is the role of iron replacement in the treatment of paroxysmal nocturnal hemoglobinuria (PNH)?
What is the risk of paroxysmal nocturnal hemoglobinuria (PNH) during pregnancy?
What is the only curative therapy for paroxysmal nocturnal hemoglobinuria (PNH)?
Medications
Which drugs are used in the treatment of paroxysmal nocturnal hemoglobinuria (PNH)?
Follow-up
What ongoing care is needed for patients with paroxysmal nocturnal hemoglobinuria (PNH)?
When is RBC transfusion indicated in the treatment of paroxysmal nocturnal hemoglobinuria (PNH)?
What are the possible complications of paroxysmal nocturnal hemoglobinuria (PNH)?
What is the prognosis of paroxysmal nocturnal hemoglobinuria (PNH)?
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This series of containers holds urine of a patient with paroxysmal nocturnal hemoglobinuria, showing the episodic nature of the dark urine (hemoglobinuria) during intravascular hemolysis, usually occurring at night. Early morning urine is cola-colored. This may occur at different times of the day and vary from patient to patient. Permission to use this image has been granted by the American Society of Hematology Slide Bank, 3rd edition.
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The Ham test (acidified serum lysis) establishes the diagnosis of paroxysmal nocturnal hemoglobinuria (PNH), demonstrating a characteristic abnormality of PNH red blood cells by acidified fresh normal serum. Here is a PNH patient's (Pt) red blood cells lysed by normal serum at room temperature (RT) and at 37°C compared with normal red cells (no hemolysis) (control [C]). Heated serum at 56°C inactivates complement and prevents hemolysis in PNH cells. Permission to use this image has been granted by the American Society of Hematology Slide Bank, 3rd edition.
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In paroxysmal nocturnal hemoglobinuria (PNH), the absence of anchor proteins that bind complement-regulating proteins (eg, CD55, CD59) to the surface of red blood cells (RBCs) leaves these RBCs susceptible to destruction by the complement membrane attack complex (MAC). Image courtesy of Haematologica. 2010 April;95(4).