Saint Peter's University Hospital New Brumswick, NJ, United States
Sotirios G. Doukas, MD1, Yi-Chia Wu, MD1, Arkady Broder, MD, FACG2 1Saint Peter's University Hospital, New Brumswick, NJ; 2Saint Peter's University Hospital, New Brunswick, NJ
Introduction: Hepatic amyloidosis is one of the rare infiltrative diseases of the liver. Here, we present a case of liver amyloidosis initially presented as a cholestatic liver disease of unknown etiology.
Case Description/Methods: A 52-year-old lady with hypertension presented to the hospital with months of poor appetite and 20-pound weight loss with two weeks of bilateral leg swelling. She had no fever, shortness of breath, chest pain, abdominal pain, or gastrointestinal bleeding. The patient uses no alcohol or medications. The vital signs were within normal limits and the physical exam was unremarkable except for +1 lower extremity edema. Labs were significant for markedly elevated alkaline phosphatase (ALP) 4018 U/L, with an elevated gamma-glutamyl transferase of 717 mg/dl, transaminitis with AST 176 U/L and ALT 69 U/L, and total bilirubin 1.8 mg/dL (direct bilirubin 1.0 mg/dL). INR was at presentation 1.08. The patient also had a creatinine of 2.88 mg/dL. Peripheral smear revealed Howell-Jolly bodies, and urinalysis showed proteinuria >500 mg/dL. CT abdomen without contrast showed hepatomegaly. MRCP was done to evaluate worsening bilirubinemia, which showed a normal biliary system. An extensive liver workup was done, revealing positive ANA and ceruloplasmin of 4 mg/dL. Testing for viral hepatitis, anti-DNA antibody (Ab), antimitochondrial Ab, anti-smooth muscle Ab, liver-kidney microsome type 1 Ab, soluble liver Ag Ab, and antistreptolysin Ab was negative. Serum ferritin was 227 µg/mL and immunoglobulin G levels were normal. A liver and a kidney biopsy showed AL amyloidosis with elevated serum kappa lambda ratio. The patient was diagnosed with amyloidosis and received CyBorD. However, the patient rapidly developed liver failure with severe kidney disease and succumbed to her disease.
Discussion: Hepatic amyloidosis commonly presents with nonspecific clinical symptoms, hepatomegaly, and elevated ALP. However, in rare cases, it can lead to fulminant hepatic failure. If suspected, prompt diagnosis is of significant importance as the disease carries a poor prognosis (typically around 8 months if untreated). Treatment includes systemic chemotherapy or autologous stem cell transplant. Amyloidosis should be considered in patients with unexplained cholestatic liver injury with hepatomegaly as rapid recognition and diagnosis of this disease may help initiate treatment promptly to prolong survival in these patients.
Disclosures: Sotirios Doukas indicated no relevant financial relationships. Yi-Chia Wu indicated no relevant financial relationships. Arkady Broder indicated no relevant financial relationships.
Sotirios G. Doukas, MD1, Yi-Chia Wu, MD1, Arkady Broder, MD, FACG2. P2932 - A Case Report: Amyloidosis as Rare Cause of Liver Failure, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.