Difficulties in diagnosing paroxysmal nocturnal hemoglobinuria in a municipal internal disease hospital

Background: The purpose of this work is to present a case of paroxysmal nocturnal hemoglobinuria in the clinical practice of an internist for the purpose of differential diagnosis with other diseases with the jaundice syndrome in a city hospital.

Clinical case description: Patient H., 51-year-old, was seen at the emergency department of the city hospital due to the periodic appearance of jaundice with dark-colored urine and fever. The physical and laboratory examination methods revealed an enlargement of the spleen, signs of mild hemolytic anemia, severe thrombocytopenia, a significant increase in the markers of cytolysis and cholestasis. Proteinuria and cylindruria were noted in the urine analysis. In terms of a differential diagnosis, Gilbert’s syndrome, viral hepatitis, hemorrhagic fever were considered.

Conclusion: Based on the data obtained, hemolytic and uremic syndromes were suspected. A therapy with iron preparations, vitamin B12, infusions of glucose and saline was applied with the positive clinical and laboratory dynamics. GPI-linked glycoproteins were determined on the surface of red blood cells (CD59), neutrophils (CD 24/FLAER), and monocytes by FLAER-/CD14 flow cytometry, which confirmed the diagnosis of paroxysmal nocturnal hemoglobinuria.