Clinical characteristics of paroxysmal nocturnal hemoglobinuria (PNH) complicated with ischemic bowel disease / 中华内科杂志

ABSTRACT

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired hematopoietic stem cell disease. Gastrointestinal involvement is rarely seen in PNH. This study aims to analyze the clinical features in PNH patients complicated with ischemic bowel disease. Clinical date of 6 patients were collected at Peking Union Medical College Hospital from January 2010 to December 2020. The clinical manifestations, laboratory tests,imaging, endoscopic,and histopathological features and treatment were analyzed.Five in 6 patients were men, with a median age of 31 years old at onset. Most of disease course were recurrent episodes of chronic disease, with abdominal pain (5/6) and gastrointestinal bleeding (5/6). Laboratory examinations showed pancytopenia, reticulocytosis, elevated serum lactate dehydrogenase, high D-dimer and C-reactive protein levels in all patients. Multiple segments of small intestine were the most commonly involved and colon was also affected. Abdominal CT scan showed thickening and roughness or exudation of the intestinal wall (6/6), increased mesenteric density or “comb sign”(4/6), and cholestasis or gallbladder stones (5/6). Endoscopic manifestations included irregular shallow ulcers in the annular cavity (5/6), swelling mucosa with well-defined margins (6/6). Pathological biopsy revealed chronic inflammation of mucosa. The efficacy of steroids combined with anticoagulant therapy was better than that of steroids alone. Ischemic bowel disease in PNH patients is different from typical ischemic enteritis. Young patients, involvement of intestine with multiple segments are common characteristics. The anticoagulant is an essential agent for these patients.