Introduction: Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired genetic disorder that affects the blood cells. It is caused by a mutation in the PIGA gene, leading to a deficiency in complement regulatory proteins on the surface of blood cells. This deficiency triggers the immune system to attack and destroy these cells, resulting in various symptoms and complications. Common symptoms include fatigue, weakness, shortness of breath, abdominal pain, and difficulty swallowing. PNH also increases the risk of blood clots, anemia, kidney failure, and pulmonary hypertension.
Description: A case presentation describes a 22-year-old patient who presented with stroke-like symptoms due to an occlusion in the left middle cerebral artery. The patient underwent thrombectomy and was subsequently diagnosed with PNH. Treatment involved the use of eculizumab, which is a monoclonal antibody that reduces hemolysis and the risk of blood clots. The patient showed improvements in motor function but continued to experience expressive aphasia.
Discussion: The pathophysiology of PNH involves PIGA gene mutation and the absence of complement regulatory proteins. PNH increases the risk of thrombosis, both arterial and venous, through platelet activation and endothelial damage. Management of acute thrombotic events involves the use of eculizumab and anticoagulation therapy. Long-term anticoagulation and management of other risk factors are important for preventing further complications.
Treatment options for PNH include eculizumab, stem cell transplantation, red blood cell transfusions, iron chelation therapy, anticoagulants, and supportive care. Eculizumab is the most commonly used treatment and helps reduce hemolysis, blood clots, and the need for transfusions. Stem cell transplantation is considered for younger patients with severe disease. Supportive care measures, such as pain management and physical therapy, are also important in managing the symptoms and complications of PNH.
