A 30-year-old male presented to the OPD with complaints of dark-coloured urine for 1 week. The episodes usually occur in the night. No splenomegaly was observed on examination. Lab findings revealed, Increased indirect bilirubin Hemoglobinemia and hemoglobinuria Absent haptoglobin Raised LDH Hemosiderinuria Reticulocytosis Flow cytometry studies were done The drug which has been approved for the above condition works by blocking which component of the complement system: -
This is a case of paroxysmal nocturnal hemoglobinuria (PNH). PNH occurs when mutations of a gene called PIG-A occur in a bone marrow stem cell. Flow cytometry reveals lack of CD 55 and CD 59. PNH is the only hemolytic anemia caused by an acquired (rather than inherited) intrinsic defect in the cell membrane (deficiency of glycophosphatidylinositol leading to the absence of protective proteins on the membrane). Eculizumab specifically binds to the terminal complement component 5, or C5, which acts at a late stage in the complement cascade. By inhibiting the complement cascade at this point, the normal, disease-preventing functions of proximal complement system are largely preserved, while the propeies of C5 that promote inflammation and cell destruction are impeded
C3a
C5
MAC complex
C1q
Integrated QBank