Karim Benrajab, MD1, Saad Emhmed Ali, MD1, Wesam Frandah, MD1, Zakaria Almuwaqqat, MD2, Bahaaeldeen Ismail, MD1
1University of Kentucky College of Medicine, Lexington, KY; 2Emory University Hospital, Atlanta, GA
Introduction: Systemic Mastocytosis (SM) is a group of disorders characterized by excessive mast cells accumulation into single or multiple organs. It affects mainly skin, but it may involve extracutaneous sites, such as the bone, liver, spleen, GI tract, and lymph node. If it involves the liver, it can lead to noncirrhotic portal hypertension. We present a case of systemic mastocytosis with an associated hematologic neoplasm (SM-AHN) that mimics a decompensated cirrhosis with massive ascites.
Case Description/Methods: A 73-year-old male presented with progressive abdominal distention, lower extremity swelling for 3 months. Also, he had a poor appetite, 20 pounds of weight loss, shortness of breath, diarrhea, and recurrent skin bruises. He was a non-smoker, denied any alcohol or illicit drugs. Past medical history was remarkable for chronic myelomonocytic leukemia. Vitals were normal. Physical exam was remarkable for the presence of significant ascites & legs edema. Labs revealed ALP 456 U/L, ALT 33U/L, AST 36U/L, bilirubin 2.8mg/dl, albumin 3.3g/dl, Hgb 10.5 g/dl, WBC 3.9k/uL, and Platelet 37k/uL. Hepatitis A, B, and C serology was negative. The abdominal US showed normal liver morphology, splenomegaly, and ascites. The echocardiogram showed LVEF of 60% and no abnormalities. Paracentesis was performed with removal of 8.5 liters. The ascitic fluid analysis was negative for infection with a low total protein, and SAAG was > 1.1. Trans-jugular liver biopsy was significant for HVPG 15 mmHg, and pathology showed dense portal and sinusoidal infiltration by clusters of atypical cells with relatively abundant cytoplasm and irregular nuclei. These atypical cells stained positive for CD117, CD 25, and mast cell tryptase by immunohistochemistry, consistent with systemic mastocytosis. Serum tryptase was 230.
The patient was going to follow up with hematologist for cytoreductive therapy and evaluation for hematopoietic stem cell transplantation.
Discussion: Liver involvement in a patient with systemic mastocytosis is a poor prognostic factor associated with increased mortality due to disease progression. Our patient presented with massive ascites and hepatic involvement due to systemic mastocytosis with an associated hematologic neoplasm (SM-AHN). The diagnosis is with high clinical suspicion and aided with liver biopsy. The survival rate is months to a year in case of (SM-AHN). Early diagnosis could limit unnecessary management and lessen any potential harm.
Citation: Karim Benrajab, MD; Saad Emhmed Ali, MD; Wesam Frandah, MD; Zakaria Almuwaqqat, MD; Bahaaeldeen Ismail, MD. P2542 - SURPRISINGLY UNCOMMON TRIGGER OF MASSIVE ASCITES. Program No. P2542. ACG 2019 Annual Scientific Meeting Abstracts. San Antonio, Texas: American College of Gastroenterology.