Paroxysmal Nocturnal Hemoglobinuria Questions & Answers

Updated: Sep 26, 2020
  • Author: Emmanuel C Besa, MD; Chief Editor: Sara J Grethlein, MD, FACP  more...
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Questions & Answers

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 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 is the role of bone marrow failure in the pathophysiology of 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 are the clinical consequences of excessive cell-free plasma Hb levels in paroxysmal nocturnal hemoglobinuria (PNH)?

What causes paroxysms in paroxysmal nocturnal hemoglobinuria (PNH)?

What is the role of nitric oxide (NO) in the pathogenesis of 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 role of peripheral blood and bone marrow in the etiology of paroxysmal nocturnal hemoglobinuria (PNH)?

What is the prevalence of paroxysmal nocturnal hemoglobinuria (PNH) in the US?

What is the PNH Registry?

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 classic paroxysmal nocturnal hemoglobinuria differentiated from paroxysmal nocturnal hemoglobinuria (PNH) in other bone marrow disorders?

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 sensitivity of the flow cytometry test in the diagnosis of paroxysmal nocturnal hemoglobinuria (PNH)?

What is the role of fluorescent aerolysin in the diagnosis of paroxysmal nocturnal hemoglobinuria (PNH)?

What is the role of immunotyping in the workup of paroxysmal nocturnal hemoglobinuria (PNH)?

What is the role of acidified serum lysis and the Ham test in the workup of paroxysmal nocturnal hemoglobinuria (PNH)?

How are the acidified serum lysis and the Ham test used in the workup of paroxysmal nocturnal hemoglobinuria?

What are the indications of a false positive acidified serum lysis and Ham test for paroxysmal nocturnal hemoglobinuria (PNH)?

What is the role of the complement lysis sensitivity test in the workup of paroxysmal nocturnal hemoglobinuria (PNH)?

What is the role of the sucrose lysis test in the workup of paroxysmal nocturnal hemoglobinuria (PNH)?

Which tests may be performed to demonstrate intravascular hemolysis in paroxysmal nocturnal hemoglobinuria (PNH)?

What is the role of imaging studies in the workup of paroxysmal nocturnal hemoglobinuria (PNH)?

What is the role of a technetium-99m (99m Tc) colloid scan in the workup of paroxysmal nocturnal hemoglobinuria (PNH)?

What is the role of MRI in the workup of paroxysmal nocturnal hemoglobinuria (PNH)?

What is the role of PIG-A gene mutation analysis in the workup of paroxysmal nocturnal hemoglobinuria (PNH)?

Treatment

What is the role of stem cell transplantation in the treatment of paroxysmal nocturnal hemoglobinuria?

What is the role of eculizumab (Soliris) in the treatment of paroxysmal nocturnal hemoglobinuria (PNH)?

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)?

What is the role of Factor D inhibitors 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 included in the supportive care for severe anemia in paroxysmal nocturnal hemoglobinuria (PNH)?

What is the role of iron replacement in the treatment of paroxysmal nocturnal hemoglobinuria (PNH)?

What is the role of androgenic hormones in the treatment of paroxysmal nocturnal hemoglobinuria (PNH)?

What is the risk of paroxysmal nocturnal hemoglobinuria (PNH) during pregnancy?

What is the efficacy of eculizumab to treat paroxysmal nocturnal hemoglobinuria (PNH) during pregnancy?

What is the only curative therapy for paroxysmal nocturnal hemoglobinuria (PNH)?

What is the role of hematopoietic stem cell transplantation in the treatment of paroxysmal nocturnal hemoglobinuria (PNH)?

What is the efficacy of stem cell transplantation for the treatment of paroxysmal nocturnal hemoglobinuria (PNH)?

What is the efficacy of eculizumab in reducing intravascular hemolysis in paroxysmal nocturnal hemoglobinuria?

What is the efficacy of eculizumab in the treatment of paroxysmal nocturnal hemoglobinuria (PNH)?

How is eculizumab used to treat paroxysmal nocturnal hemoglobinuria (PNH)?

Which vaccinations are required prior to treatment of paroxysmal nocturnal hemoglobinuria (PNH) with eculizumab?

What are the benefits of eculizumab in the treatment of paroxysmal nocturnal hemoglobinuria (PNH)?

What is the effect of eculizumab on thromboembolic complications in paroxysmal nocturnal hemoglobinuria (PNH)?

When should anticoagulation be discontinued in the treatment of paroxysmal nocturnal hemoglobinuria (PNH)?

Is eculizumab safe in patients with paroxysmal nocturnal hemoglobinuria (PNH) and impaired renal function?

How does eculizumab affect the renal function of patients with paroxysmal nocturnal hemoglobinuria (PNH)?

Why should iron be monitored in patients taking eculizumab for the treatment of paroxysmal nocturnal hemoglobinuria (PNH)?

Medications

Which drugs are used in the treatment of paroxysmal nocturnal hemoglobinuria (PNH)?

Which medications in the drug class Immunosuppressive Agents are used in the treatment of Paroxysmal Nocturnal Hemoglobinuria?

Which medications in the drug class Androgens are used in the treatment of Paroxysmal Nocturnal Hemoglobinuria?

Which medications in the drug class Complement Inhibitors are used in the treatment of Paroxysmal Nocturnal Hemoglobinuria?

Follow-up

What ongoing care is needed for patients with paroxysmal nocturnal hemoglobinuria (PNH)?

What are the indications for allogeneic bone marrow transplantation for the treatment of 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)?