St. Vincent's Medical Center, Quinnipiac University Bridgeport, CT, United States
Rishi Chadha, MD1, Karan Amlani, MD1, Arnaldo Rodriguez, MD1, Aleksandra Rosinski, MD2 1St. Vincent's Medical Center, Quinnipiac University, Bridgeport, CT; 2St. Vincent's Medical Center, Bridgeport, CT
Introduction: Cryptogenic cirrhosis is a diagnosis of exclusion for end stage liver disease if, after extensive workup, an etiology is not found. As illustrated in our case, cryptogenic cirrhosis is most often a misdiagnosis of nonalcoholic fatty liver disease (NAFLD) rather than an unknown entity. The diagnosis of cirrhosis in NAFLD is often delayed compared with those with other chronic liver diseases and patients often present in a late stage of disease.
Case Description/Methods: A 56-year-old, non-alcoholic, obese Hispanic female with no medical history presented to the outpatient clinic with complaints of intermittent right upper quadrant abdominal pain for the past year. She also reported having intermittent skin and scleral icterus noticed by her family. Abdominal ultrasound reported diffuse micronodular pattern as well as evidence of 3.8cmx2.5cm mass in right liver lobe with internal vascularity. MRI was ordered which confirmed 5cm mass in same location, highly suspicious for hepatocellular carcinoma. While awaiting surgery, further investigations were performed.
FibroSure test reported Metavir score of F4 consistent for severe fibrosis. Liver function was well preserved with a MELD score of 8 and Child-Pugh Class A. Work up for probable causes of cirrhosis began with negative results for active infection with hepatitis A, B or C, normal ceruloplasmin levels, and an elevated serum iron level (190mcg/dL). Genetic work up revealed that she is heterozygous for the H63D mutation. An autoimmune work up was negative including ANA, anti-smooth muscle, and antimitochondrial antibody. A liver biopsy was the next step, and she had a mass concerning for hepatocellular carcinoma with an elevated AFP (6.6ng/mL) a partial right lobectomy was performed. Pathology showed steatohepatitis variant of hepatocellular carcinoma with negative iron stain and negative for alpha 1 antitrypsin.
Discussion: Although a presumptive diagnosis of NAFLD can be made noninvasively, a definitive diagnosis requires a liver biopsy. Cryptogenic cirrhosis and NAFLD cirrhosis have a similar demographic distribution and silent clinical course, although this does not exclude other causes of cirrhosis. Cryptogenic cirrhosis is increasingly being considered as an advanced stage of NAFLD. In either case, it is indispensable to investigate for alternative causes. Although there is no definite treatment, recommendations for patients with NAFLD include aggressive management of obesity, diabetes mellitus, and metabolic syndrome.
Figure: Axial MRI showing hypervascular enhancing lesion in the right hepatic lobe highly suspicious for hepatocellular carcinoma.
Rishi Chadha indicated no relevant financial relationships.
Karan Amlani indicated no relevant financial relationships.
Arnaldo Rodriguez indicated no relevant financial relationships.
Aleksandra Rosinski indicated no relevant financial relationships.
Rishi Chadha, MD1, Karan Amlani, MD1, Arnaldo Rodriguez, MD1, Aleksandra Rosinski, MD2. P1911 - The Masquerade of Cryptogenic Cirrhosis: A Case Report, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.