What is Paroxysmal Nocturnal Hemoglobinuria?

Paroxysmal Nocturnal Hemoglobinuria
Paroxysmal Nocturnal Hemoglobinuria. Morphological features of the bone marrow in patients with PNH and the JAK2V617F mutation. Patient 1: (i) hematoxilin–eosin-stained section showing hyperplasia and mild dysplasia. (ii) Anti-factor VIII section showing increased number of megakaryocytes (stained in brown) with mild dysplasia. (iii) Reticulin stain showing moderately increased reticulin staining (grade 2), indicative of mild fibrosis. Patient 2: (i) hematoxilin–eosin-stained section, showing hypercellularity and an increase in small hypolobated megakaryocytes. The myeloperoxidase stain (data not shown) is strongly positive in most of the cells. (ii) Wright stain. There were no spicules present, but the aspirate is richly cellular and demonstrates predominance of myeloid cells with an M:E ratio of ∼8:1. (iii) Reticulin stain showing diffuse increase in reticulin. Trichome stain was negative. Patient 3: (i) hematoxilin–eosin-stained section, 2006, showing normocellularity; megakaryocytes were present but not increased; (ii) repeat marrow examination in 2010, demonstrating marked distortion of the architecture by fibrosis; reticulin stain was 4+-positive at this time. (iii) peripheral smear findings in 2011 typical of a myeloproliferative syndrome: nucleated red blood cells, giant PLTs and occasional teardrops.Paroxysmal nocturnal hemoglobinuria and concurrent JAK2(V617F) mutation. Sugimori C, Padron E, Caceres G, Shain K, Sokol L, Zhang L, Tiu R, O'Keefe CL, Afable M, Clemente M, Lee JM, Maciejewski JP, List AF, Epling-Burnette PK, Araten DJ - Blood cancer journal (2012). Not Altered. CC.

Paroxysmal nocturnal hemoglobinuria is a disorder resulting from acquired mutations in phosphatidylinositol glycan A (PIGA).

What is the Pathology of Paroxysmal Nocturnal Hemoglobinuria?

The pathology of paroxysmal nocturnal hemoglobinuria is:

-Etiology: The cause of paroxysmal nocturnal hemoglobinuria is gene PIGA mutation.

-Genes involved: PIGA 

-Pathogenesis: The sequence of events that lead to paroxysmal nocturnal hemoglobinuria result from somatic mutations occurring in pluripotent stem cells, with all its clonal progeny lacking in proteins attached to the cell membrane via GPI. Mutations in phosphatidylinositol glycan A (PIGA) vital for synthesizing the phospholipid glycosylphosphatidylinositol (GPI) anchor.

-Morphology: Rashes.

-Histology: Abnormal red blood cells.

How does Paroxysmal Nocturnal Hemoglobinuria Present? 

Patients with paroxysmal nocturnal hemoglobinuria typically have no gender prevalence present at age range of childhood and adulthood. The symptoms, features, and clinical findings associated with paroxysmal nocturnal hemoglobinuria include esophageal spasms, raised painful red nodules in the skin, headache, and abdominal pain.

How is Paroxysmal Nocturnal Hemoglobinuria Diagnosed? 

Paroxysmal nocturnal hemoglobinuria is diagnosed through laboratory studies- Flow cytometry to detect CD59, a glycoprotein, and CD55. Acidified serum lysis and Ham test, immunotyping, complement lysis sensitivity test, sucrose lysis test. Serum lactate dehydrogenase levels may also be useful.

How is Paroxysmal Nocturnal Hemoglobinuria Treated? 

Paroxysmal nocturnal hemoglobinuria is treated through monoclonal antibodies therapy (eculizumab, ravulizumab), corticosteroids therapy, managing underlying causes, and bone marrow transplant.

What is the Prognosis of Paroxysmal Nocturnal Hemoglobinuria?

The prognosis of paroxysmal nocturnal hemoglobinuria is fair with proper management.

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Last updated on May 23, 2022