Paroxysmal Nocturnal Hemoglobinuria (PNH) in a Young Adult: A Diagnostic Challenge with Recurrent Abdominal Pain and Fatigue Mimicking Gastrointestinal Malignancy

Author(s): Suvarthy Dey, Abdullah Al Masud, Abdullah Al Jubaer, Kazi Nusrat Zahan Bristy, Chandrima Halder, Tasnim Mostafa, Sheikh Sophia Shaubnaum, Sonia Sarmin, Avijit Sarker Jyoti

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired blood disorder marked by destruction of red blood cells, low blood counts, and an increased risk of unusual blood clots. Symptoms vary but often include fatigue, dark urine from hemolysis, and clot-related complications. Diagnosis is made using flow cytometry and FLAER testing. Historically, care focused on supportive treatment and managing clots. However, recent advances, such as hematopoietic stem cell transplantation and complement inhibitors like eculizumab, have significantly improved outcomes. Here we report a 26-year-old male having the clinical features of recurrent abdominal pain, fatigue, and left lower leg swelling, which are clinically consistent with paroxysmal nocturnal hemoglobinuria (PNH). Differentials were ruled out by appropriate investigation, and the case was confirmed by flow cytometry. Having been diagnosed, our patient started treatment with the complement inhibitor eculizumab. Resolution of the abdominal pain and normalization of clinical parameters were noted within 3 weeks of treatment initiation.