Nicole Anastasio, DO1, Omar T. Ahmed, MBBCh1, Jennifer Onwochei, MD2, Steven A. Goldenberg, MD1 1UConn Health, Farmington, CT; 2UConn Health, Hartford, CT
Introduction: The diagnosis of autoimmune hepatitis (AIH) requires excluding other etiologies of liver disease and the presence of autoantibodies and elevated serum globulins. Autoantibodies, however, can be absent in some cases making diagnosis difficult. We report a case of seronegative AIH and lab findings suggestive of hemochromatosis (HC) that proved misleading.
Case Description/Methods: A 65-year-old female with a history of SLE (on maintenance prednisone) and hypothyroidism presented with abdominal pain, nausea and jaundice. She had discontinued prednisone a month prior to presentation. No history of alcohol or herbal supplements use and no prior blood transfusions. Exam was unremarkable except for jaundice. Labs were significant for elevated liver enzymes, iron, ferritin and transferrin saturation (Table 1), negative acute viral hepatitis, ANA, ASMA, AMA, A1AT, and ceruloplasmin, elevated IgG, and no mutations in HFE genes. Liver biopsy was consistent with severe, active AIH (Fig. 1). She scored 4 points on Simplified Diagnostic Criteria for AIH (SDC), indicating possible AIH, and scored 18 points on Revised Diagnostic Criteria (RDC), indicating definite AIH. She was treated with steroids and maintained on azathioprine with clinical and laboratory recovery (Table 1).
Discussion: Our patient with a history of autoimmune diseases was likely genetically predisposed to AIH, which manifested after she discontinued her prednisone. She had negative autoantibodies, which is seen in ~10% of AIH cases and is associated with a more aggressive course. Delayed diagnosis can lead to rapid progression of disease. In these cases, diagnosis is mainly based on histological findings and the response to steroids. Also, supplemental use of RDC can be more helpful than SDC in seronegative AIH.
Her elevated ferritin and transferrin saturation falsely suggested HC, however, given the acuity of her presentation, absent HFE genetic mutations, and biopsy findings, HC was ruled out.
Ferritin, an acute phase reactant, can be elevated with AIH, however, transferrin saturation is expected to be normal. It is hypothesized that with severe liver injury causing decreased transferrin synthesis, and in presence of elevated serum iron, transferrin saturation can seem falsely elevated.
This case highlights a rare presentation of seronegative AIH associated with elevated transferrin saturation, and the importance of liver biopsy and use of RDC score to avoid delay in diagnosis of a potentially aggressive disease.
Figure: Fig. 1A: Severe interface hepatitis with marked acute and chronic inflammation including both neutrophils and lymphocytes and occasional plasma cell (H&E). Fig. 1B: Trichrome stain showing extensive chicken-wire fibrosis (stage V of VI on Ishak's modified staging system) disturbing the architecture of liver and consistent with cirrhosis. Iron stain showed accumulation of hemosiderin predominantly in Kupffer cells consistent with siderosis (not shown).
Initial Presentation
1.5 Months on Treatment
Aspartate Aminotransferase (U/L)
696
39
Alanine Aminotransferase (U/L)
654
41
Alkaline Phosphatase (U/L)
258
109
Total Bilirubin (mg/dL)
8.2
1.0
Iron (mcg/dL)
219
122
Transferrin Saturation (%)
88
36
Ferritin (mcg/dL)
3,117
339
Table: Table 1: Trend of select liver function tests and iron studies from initial presentation to 1.5 months on immunosuppressant therapy.
Disclosures:
Nicole Anastasio indicated no relevant financial relationships.
Omar Ahmed indicated no relevant financial relationships.
Jennifer Onwochei indicated no relevant financial relationships.
Steven Goldenberg indicated no relevant financial relationships.
Nicole Anastasio, DO1, Omar T. Ahmed, MBBCh1, Jennifer Onwochei, MD2, Steven A. Goldenberg, MD1. B0600 - A Case of Autoimmune Hepatitis Disguised as Hemochromatosis, ACG 2022 Annual Scientific Meeting Abstracts. Charlotte, NC: American College of Gastroenterology.
