A 44‐year‐old white woman with no medical history presented with massive ascites that progressed over the last 6 months. Patient denied any history of alcohol use, blood transfusion, IV drug abuse, or hepatitis. Initial evaluation revealed: (1) hemolytric anemia of unknown etiology and (2) newly diagnosed ascites. Examination showed the patient had icteric sclera and distended abdomen with a positive fluid wave. No signs of cirrhosis were noted. Workup was significant for hemoglobin of 10.9 g/dL with a reticulocyte count of 6.5%; normal MCV, MCH, and MCHC; low platelet count of 136,000/μL; mildly elevated AST of 59; elevated unconjugated bilirubin of 4 mg/dL and conjugated bilirubin of 1.2 mg/dL; haptoglobin < 20 mg/dL; and LDH of 1329 U/L. Kidney function and alkaline phosphatase were normal. Peripheral smear showed only normocytic anemia with slight polychromasia. Urine was dipstick positive for blood with rare RBCs.
Hemolytic anemia was diagnosed based on the above labs. Coombs' test was negative as well as cold agglutinin testing and ANA. Iron panel shows normal transferrin saturation with normal ferritin. A diagnostic paracentesis was done taking out 8L of fluid with a SAAG score > 1.1 g/dL and ascitic fluid protein of < 0.2 g/dL, blood cell counts with differential and cultures were unremarkable. Cytology did not show any malignant cells. Viral hepatitis workup was negative for hepatitis A, B, C, and D along with anti–smooth muscle, antimitochondrial antibody testing and alpha 1 antitrypsin and ENA antibody. Wilson's disease was also ruled out. During hospitalization, patient developed an acute pulmonary embolism. US was negative for lower‐extremity DVTs or hepatic vein thrombosis. No other risk factors factors for VTE or coagulopathies were found. Paroxysmal nocturnal hemoglobinuria (PNH) was suspected based on combination between hemolytic anemia and thrombosis; flow cytometry confirmed the diagnosis. She was started eculizumab and scheduled for bone marrow biopsy for possible bone marrow transplant. No causative agent for cirrhosis was identified, and the patient was scheduled for outpatient liver biopsy.
PNH is a rare and acquired disease of the blood characterized by hemolytic anemia and thrombosis. Forty percent of patients develop thrombosis (a blood clot) at some point in their illness. This is the main cause of severe complications and death in PNH. Although the most obvious connection in a case of PNH and ascites would be that of a thrombosis in the hepatic or portal veins causing portal hypertension specially in this patient who developed pulmonary embolism, but that is not so in this case as evidenced by a negative ultrasound of the hepatic vessels. Is there an unknown connection between cryptogenic cirrhosis and PNH? There is that other possibility that there are 2 separate entities that presented in the same person. Pending a liver biopsy, we could not definitely tell. For now, a diagnosis of cryptogenic cirrhosis is in place in a patient with PNH.
To cite this abstract:Tiu H, Sultan G, Sultan W. A Bleed and a Clot. Abstract published at Hospital Medicine 2013, May 16-19, National Harbor, Md. Abstract 495. Journal of Hospital Medicine. 2013; 8 (suppl 2). https://www.shmabstracts.com/abstract/a-bleed-and-a-clot/. Accessed January 19, 2020.