Paroxysmal nocturnal hemoglobinuria pathophysiology

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Pathophysiology

Physiology

• Normally, Red Blood Cells (RBCs) alike the other cells in the body have surface proteins that acts as a communicating signal between the cells and the environment.
• The signaling proteins are most commonly attached to the surface of the RBCs by glycolipids. The most common glycolipid is the glycosyl phosphatidylinositols (GPI).
• The attached proteins are also protective to the cells against destruction by the complement system.
• The RBCs are mainly protected by proteins called decay accelerating factor (DAF/CD55). The DAF or CD55 proteins prevent the formation of C3-convertase enzyme, the protectin (CD59), and the C9 which are components of the complement inflammatory system.

Pathogenesis

• The exact pathogenesis of [disease name] is not completely understood.

OR

• It is understood that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
• [Pathogen name] is usually transmitted via the [transmission route] route to the human host.
• Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
• [Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
• The progression to [disease name] usually involves the [molecular pathway].
• The pathophysiology of [disease/malignancy] depends on the histological subtype.

Genetics

Genes involved in the pathogenesis of paroxysmal nocturnal hemoglobinuria include:

• PIGA gene
• TET2
• SUZ12
• U2AF1
• JAK2

Associated Conditions

• However, paroxysmal nocturnal hemoglobinuria is usually associated with the following diseases:
  • Aplastic anemia
  • Myelodysplastic anemia
  • Acute myelogenous anemia

Gross Pathology

On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

Microscopic Pathology

On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].