P1154 - Systemic Mastocytosis - A Rare Cause of Non-Cirrhotic Portal Hypertension and Anchoring Bias

Nimish Thakral, MD, Kishore Karri, MD, Fady Salama, MD, Vijay Aluru, MD, Kshitij Thakur, MD, MSc
University of Kentucky, Lexington, KY

Introduction: Anchoring bias is defined as the tendency to rely too heavily on the first piece of information provided about a topic which unconsciously affects our understanding, actions, and decisions. Physicians must make a concerted attempt not to fall prey to implicit bias as this can lead to delayed diagnosis of care. Here we describe a case of non-cirrhotic portal hypertension that was marred by anchoring bias.

Case Description/Methods: A 62-year-old male with a previous diagnosis of decompensated NASH cirrhosis presented to our institution for liver transplant evaluation. On review, he was found to have diuretic-intractable ascites requiring large-volume paracentesis every 2 weeks. Ascitic fluid studies were consistent with portal hypertension. Prior evaluation for the etiology of chronic liver disease was non-conclusive. Given concomitant diabetes, obesity, and hyperlipidemia, the etiology was thought to be non-alcoholic fatty liver disease.

Laboratory evaluation showed longstanding leukocytosis and paraprotein gap. CT abdomen/pelvis showed new development of lytic bone lesions with retroperitoneal lymphadenopathy. Hematological evaluation and bone marrow biopsy revealed the underlying diagnosis of severe systemic mastocytosis (SM). Subsequent liver biopsy showed severe mast cell infiltration with stage 2-3 fibrosis without evidence of cirrhosis. Given the absence of cirrhosis and the presence of systemic malignancy, the transplant process was deferred and he was started on systemic chemotherapy. However, the patient's course was complicated by sepsis with resultant shock and untimely demise.

Discussion: Portal Hypertension is a well-recognized complication of cirrhosis. Rising portal pressures serve as a predictor for decompensation, defined by either Ascites, Variceal bleeding or Hepatic Encephalopathy. However, 30-40% of portal hypertension occurs without underlying cirrhosis. SM is a clonal neoplastic disorder of the mast cells which primarily involves the skin but can also result in extracutaneous involvement. The incidence is estimated at 5-10 cases/10⁶ people/year. Hepatic involvement is common and usually results in hepatomegaly (41-72%) Fewer than 4 % of cases present with portal hypertension. Given the rarity of this presentation, the diagnosis of SM is often marred by anchoring bias with the resultant misdiagnosis of cirrhosis. A high index of suspicion is required to make an accurate diagnosis leading to prompt intervention, thus avoiding delay in care and associated morbidity.


Disclosures:


Nimish Thakral, MD, Kishore Karri, MD, Fady Salama, MD, Vijay Aluru, MD, Kshitij Thakur, MD, MSc. P1154 - Systemic Mastocytosis - A Rare Cause of Non-Cirrhotic Portal Hypertension and Anchoring Bias, ACG 2023 Annual Scientific Meeting Abstracts. Vancouver, BC, Canada: American College of Gastroenterology.