P0855 - Abnormal Liver Enzymes Secondary to Congenital Hepatic Fibrosis with Multiple Biliary Cysts

Michael Tseng, MD¹, Taseen Syed, MBBS, MD¹, Richard Sterling, MD, MSc, FACG^2
1Virginia Commonwealth University Health Systems, Richmond, VA; ²Virginia Commonwealth University, Richmond, VA

Introduction: Adults with congenital hepatic fibrosis (CHF) have various clinical presentation, but often exerts only mild hepatic injures at the onset. We present a rare case of an asymptomatic patient with mildly elevated liver enzymes, which later was diagnosed with CHF.

Case Description/Methods: A 40-year-old female with history of obesity, hyperlipidemia, depression was referred after liver ultrasound showed solid masses with biliary dilation, requested by her primary care physician as part of workup for abnormal liver enzymes (Aspartate transaminase of 30 U/L; Alanine transaminase of 38 U/L; Alkaline phosphatase of 97 U/L). The liver synthetic function was preserved (normal albumin, total bilirubin, and international normalized ratio). These findings were further investigated by abdominal magnetic resonance imaging (MRI), which demonstrated innumerable tiny cystic foci throughout the liver likely represent biliary hamartomas (Figure 1). Patient subsequently underwent trans-jugular liver biopsy that showed normal portosystemic gradient (2 mmHg) with histology showing multiple fibrous areas containing ductal plate malformations diagnostic for congenital hepatic fibrosis (Figure 2). Patient is being monitored closely with outpatient hepatology clinic visits as she currently has no hepatic decompensations symptoms.

Discussion: Patients with no history of cirrhosis or decompensation symptoms with borderline abnormal liver enzymes often may not alert physicians to conduct further investigations. However, persistently elevated hepatic enzymes with unknown causes require further workup as in this case can result in an etiology to explain the abnormal enzymes. CHF rarely presents as a single disease entity. Although not present in this case, CHF is most commonly associated with autosomal recessive polycystic kidney disease. Our case likely explained CHF with association of Von Meyenburg complex also known as “bile duct micro-hamartomas,” which increases the risk for intrahepatic cholangiocarcinoma development. As CHF lacks significant inflammatory activity and hepatocellular injury, liver enzymes often are not elevated, and adults with CHF often have mild liver injuries at symptoms onset. On the contrary, children with CHF may present with severe complications from portal hypertension that warrants liver transplantation. This case raises awareness for undiagnosed CHF cases, and need for timely investigation with biopsy followed by early engagement of multidisciplinary team to optimize outcome.


Figure: Figure 1: Abdominal MRI revealed innumerable tiny cystic foci throughout the liver likely represent biliary hamartomas.
Figure 2: Histology results from trans-jugular liver biopsy showing multiple fibrous areas containing ductal plate malformations diagnostic for congenital hepatic fibrosis.


Disclosures:
Michael Tseng indicated no relevant financial relationships.
Taseen Syed indicated no relevant financial relationships.
Richard Sterling indicated no relevant financial relationships.


Michael Tseng, MD¹, Taseen Syed, MBBS, MD¹, Richard Sterling, MD, MSc, FACG². P0855 - Abnormal Liver Enzymes Secondary to Congenital Hepatic Fibrosis with Multiple Biliary Cysts, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.