Diagnostic Challenges and Management of Paroxysmal Nocturnal Hemoglobinuria: A Case Report from Nepal

This case report focuses on a 26-year-old man from Nepal who was diagnosed with paroxysmal nocturnal haemoglobinuria (PNH), an uncommon and potentially life-threatening haematological disorder. PNH is characterised by chronic intravascular haemolysis, bone marrow failure, and an increased risk of thrombosis, which can contribute to considerable clinical complications. The patient presented with several symptoms, including generalised weakness, jaundice, recurrent episodes of nosebleeds, dark-coloured urine, and pain in the large joints during the winter season. These symptoms had developed over time and reflected the varied clinical manifestations that can occur in patients with PNH. On clinical examination, the patient had scleral icterus and hepatomegaly, supporting the presence of an underlying haemolytic condition. Laboratory investigations demonstrated severe anaemia, leukopenia, an elevated lactate dehydrogenase level, and a significant PNH clone identified through flow cytometric analysis. Bone marrow examination also revealed findings that were consistent with the diagnosis of PNH. The combination of the patient’s clinical presentation, laboratory abnormalities, flow cytometry findings, and bone marrow results helped establish the final diagnosis. This report highlights the diagnostic difficulties associated with PNH because of its rarity and diverse clinical presentation, which may delay accurate recognition of the condition. It also reviews the available treatment approaches, including eculizumab and corticosteroids. Overall, the case emphasises the importance of maintaining clinical awareness and achieving a timely and accurate diagnosis to support the effective management of this rare and potentially fatal haematological disorder.