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266 SARCOIDOSIS-INDUCED PORTAL HYPERTENSION PRESENTING AS AMA-NEGATIVE PRIMARY BILIARY CIRRHOSIS R Profiti, L Liu BACKGROUND: Primary biliary cirrhosis (PBC) is characterized by cholestatic liver disease, the presence of antimitochondrial antibodies (AMA), and characteristic histologic findings. AMA is negative in 10-15% of cases of PBC but about 50% of these cases have detectable ANA and/or ASMA ("autoimmune cholangitis"). This makes 5-7% of PBC both AMA and autoantibody negative. We describe a patient who presented with clinical, biochemical and histologic findings consistent with AMA and autoantibody negative PBC but was later found to have hepatic sarcoidosis causing portal hypertension. We review the prevalence of AMA and autoantibody negative PBC and review whether a thorough workup was undertaken to rule out mimickers of this entity.
McMaster University, Hamilton, Ontario
CASE REPORT: A 53-year-old woman was referred with a 2 month history of increasing abdominal girth, cholestatic liver enzymes and an ultrasound showing ascites, splenomegaly and a shrunken liver. Her history included severe pruritus 3 years ago and increasing fatigue. Her prior medical history was noteworthy for hypothyroidism, symptoms consistent with Raynaud's and "dry eyes". There were no risk factors for viral hepatitis and no family history of liver disease. Laboratory investigations revealed a mild thrombocytopenia, cholestatic liver enzymes (ALP 381, GGT 105, ALT 39, AST 43), INR 1.3, and a negative work up for causes of liver disease, including negative AMA, ANA, ASMA, and ACE. Chest CT and TB skin test were normal. Liver biopsy showed granulomatous portal infiltration with a paucity of bile ducts consistent with PBC. The patient was diagnosed with AMA and autoantibody negative PBC. An EGD revealed esophageal varices and increased nodularity of the gastric antrum, biopsies of which showed granulomatous gastritis. The liver and gastric biopsies were re-evaluated and a diagnosis of intestinal and hepatic sarcoidosis was made.
DISCUSSION: A review of the English literature using Medline from 1966 to September 2006 found 4 retrospective cohort studies that examined consecutive patients diagnosed with PBC and for which AMA, ANA and ASMA status was reported. AMA and autoantibody negative PBC was seen in 1.4-2.9% of PBC patients. None of the studies reported carrying out thorough investigations to rule out mimickers of this entity. Our patient was initially diagnosed with AMA and autoantibody negative PBC. Hepatic sarcoidosis was diagnosed after granulomatous disease was identified in the stomach. Our case highlights that in the absence of these markers one should search for etiologies that closely resemble PBC as there are differences in the management and prognosis of the various PBC mimickers.