True in a patient with PNH?
**Core Concept**
Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare, acquired, life-threatening disease of the blood characterized by the destruction of red blood cells, bone marrow failure, and the potential for blood clot formation. PNH is caused by a mutation in the PIGA gene, leading to a deficiency of the glycosylphosphatidylinositol (GPI) anchor, which is essential for the expression of complement inhibitors on the surface of red blood cells.
**Why the Correct Answer is Right**
The correct answer is related to the complement system's role in PNH. In PNH, the lack of GPI-anchored complement inhibitors, such as CD55 and CD59, on the surface of red blood cells makes them more susceptible to complement-mediated lysis. The complement system is a group of proteins that plays a crucial role in the innate immune system, helping to eliminate pathogens and damaged cells from the body. However, in PNH, the complement system's activity is unregulated, leading to the destruction of red blood cells.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because it does not accurately describe a characteristic of PNH. While PNH patients may experience episodes of hemolysis, the condition is not primarily characterized by the presence of a specific type of blood cell.
**Option B:** This option is incorrect because it does not accurately describe the pathophysiology of PNH. The destruction of red blood cells in PNH is not primarily due to the abnormal function of platelets.
**Option C:** This option is incorrect because it does not accurately describe the genetic basis of PNH. While PNH is caused by a mutation in the PIGA gene, this option does not accurately describe the relationship between the mutation and the disease.
**Clinical Pearl / High-Yield Fact**
PNH is often associated with a deficiency of CD55 and CD59 on the surface of red blood cells, making them more susceptible to complement-mediated lysis. This is a critical aspect of the disease's pathophysiology and is relevant to the diagnosis and management of PNH.
**Correct Answer:** C.