In a letter to the editor of Clinics and Research in Hepatology and Gastroenterology, researchers presented the case of a man who had both cirrhosis and paroxysmal nocturnal hemoglobinuria (PNH), as well as the resulting complications that followed.
A 43-year-old man presented with recurring jaundice and ascites; he also had intermittent hematemesis and melena. The symptoms had been present for the last 6 years. Also 6 years ago, his physicians discovered a congenital anomaly of the right hepatic vein that gave rise to Budd-Chiari syndrome. A transjugular intrahepatic portosystemic shunt was surgically put in place; nevertheless, he continued to experience shunt thrombosis on occasion, despite being on long-term anticoagulation therapy.
A physical examination of the patient found that he was pale and jaundiced. In addition, he had hepatomegaly, ascites, and splenomegaly. A gastroscopy revealed esophageal vertices. Blood investigations revealed anemia with high mean corpuscular count, as well as low platelet levels. Bilirubin levels, both direct and indirect, were high. He also had high lactate dehydrogenase and low albumin levels. D-dimer was high at 3.87 mcg/mL.
A bone marrow examination revealed raised myeloerythroid proliferation levels. His physicians took another look at his medical records and noted a few anomalies: first, the patient had persistent anemia even without gastrointestinal bleeding; second, the patient had significantly elevated bilirubin levels compared with low levels of liver enzymes; third, the patient had consistently elevated D-dimer and lactate dehydrogenase levels.
Read more about PNH etiology
“These observations prompted considerations of hemolytic disorders as potential underlying causes,” the authors wrote. “Given the patient’s history of recurrent shunt thrombosis, paroxysmal nocturnal hemoglobinuria (PNH) emerged as a plausible suspicion.”
The patient’s anemia and jaundice was initially thought to be caused by cirrhosis alone; now physicians wanted to know whether PNH had exerted any influence. Peripheral blood flow cytometry confirmed their diagnosis of PNH, and the patient was started on sodium bicarbonate and folic acid supplementation. Unfortunately, he died from liver failure 2 months later.
Wang X, Xu GH, Yu J, Li H, Zhang JY, Huang WF. When cirrhosis meets paroxysmal nocturnal hemoglobinuria: what kind of “fireworks” scenario will occur? Clin Res Hepatol Gastroenterol. Published online June 22, 2023. doi:10.1016/j.clinre.2023.102173