P1101 - Unmasking the Enigma: A Case of Idiopathic Non-Cirrhotic Portal Hypertension

Muhammad Raheel Awan, MD¹, Mahreen Siddique, MBBS², Saad Ur Rahman, MD³, Ammad Chaudhary, MD^4
1Carle Foundation hospital, Urbana, IL; ²Children's Hospital and the Institute of Child Health, Champaign, IL; ³Carle Foundation Hospital, Urbana, IL; ⁴Henry Ford Hospital, Detroit, MI

Introduction: Idiopathic non-cirrhotic portal hypertension (INCPH) is a rare disease entailing intrahepatic portal hypertension (HTN) without cirrhosis and a clear etiology. We present a unique case of a young man with a high hepatic venous pressure gradient (HVPG) and a non-cirrhotic liver biopsy who presented with complications of portal HTN without underlying chronic liver disease.

Case Description/Methods: A 19-year-old healthy male of East Indian descent presented with concerns of dizziness and fatigue for a few days. Physical examination showed general pallor. Laboratory workup showed severe pancytopenia, low vitamin B 12, total bilirubin of 1.4, and international normalized ratio (INR) of 1.4. Further workup including liver transaminases, intrinsic factor antibody (Ab), acute and chronic hepatitis profile, celiac disease Ab, anti-smooth muscle Ab, antimitochondrial Ab, serum copper/ceruloplasmin and alpha-1 antitrypsin levels, and human immunodeficiency virus testing came back unremarkable.
Stool guaiac was positive, after which upper gastrointestinal endoscopy revealed Grade III esophageal varices without active bleeding. Computed tomography (CT) abdomen/pelvis with contrast was unremarkable except for splenomegaly of 17.8 cm. CT angiography abdomen/pelvis showed no portal venous thrombosis or abnormal arterial shunting. Interventional Radiology guided HVPG measurement revealed elevated free hepatic vein pressure of 10 mm Hg, hepatic vein pressure of 80 mm Hg, corrected sinusoidal pressure of 8 mm Hg, right atrial pressure of 9 mm Hg, and inferior vena cava pressure of 10 mm Hg.

After an unrevealing initial workup, the multi-disciplinary committee recommended duodenal and liver biopsy. Duodenal biopsy was unremarkable; however, liver biopsy showed mild sinusoidal congestion, some portal/periportal expansion of fibrosis, and no evidence of cirrhosis. Stool ova/parasite and Schistosoma Ab testing were negative. After ruling out possible differentials, the patient was diagnosed with INCPH and was started on Nadolol.

Discussion: INCPH is a rare diagnosis in the Western world, with only 3-5% cases of portal HTN caused by INCPH. The 10-year mortality rate of INCPH is between 18-44%. INCPH has unclear pathogenesis, and common causes include chronic infections, exposure to medications/toxins, genetic or immunological disorders, and thrombophilia. INCPH has no gold standard diagnostic test or specific therapy. Scarce medical literature needs more reliable data to prevent delayed diagnosis and complications.


Disclosures:


Muhammad Raheel Awan, MD¹, Mahreen Siddique, MBBS², Saad Ur Rahman, MD³, Ammad Chaudhary, MD⁴. P1101 - Unmasking the Enigma: A Case of Idiopathic Non-Cirrhotic Portal Hypertension, ACG 2023 Annual Scientific Meeting Abstracts. Vancouver, BC, Canada: American College of Gastroenterology.