Abstract

Autoimmune Hepatitis presenting as Iron Overload in an Adult Male: A Diagnostic Challenge

Ferdinand M. Anzo, MD; Jose Guillain E. Cataluña, MD
St. Luke’s Medical Center - Quezon City

Background: Autoimmune hepatitis (AIH) is a rare, chronic liver disease that affects individuals of all ages and ethnic groups, with a higher prevalence in females. Seronegative AIH is even rarer, accounting for only 7% of cases. Diagnosing AIH can be difficult due to its overlap with other conditions, such hemochromatosis. Liver biopsy is essential for histopathologic confirmation.

Clinical Presentation: A 58-year-old male with hypertension and diabetes presented with persistently elevated liver enzymes for three months and developed jaundice and dark-colored urine but no abdominal pain or fever. Laboratory tests revealed elevated AST (172 U/L), ALT (248 U/L), alkaline phosphatase (232 U/L) and total bilirubin (2.47 mg/dL), while albumin level (3.54 g/dL) is normal. Ultrasound showed fatty liver without biliary obstruction. Abdominal MRI suggested the possibility of hemochromatosis. Iron studies showed elevated iron (200 ?g/dL), TIBC (300 ?g/dL), and ferritin (3,182 ng/mL), with a transferrin saturation of 60%. Other findings included elevated serum IgG (312 IU/mL) and GGT (225 U/L). ANA, AMA, and ASMA were negative, while the direct antiglobulin test was positive. Viral hepatitis panel was negative. Liver elastography indicated cirrhosis (20.41 kPa, F4). A liver biopsy revealed chronic hepatitis with interface activity, moderate lobular inflammation, mild steatosis, periportal fibrosis with focal septa, and negative Perl’s stain in the hepatocytes. The HFE gene mutation test was normal. These laboratory and histologic findings confirmed the diagnosis of autoimmune hepatitis. The patient was started on steroid therapy, achieving clinical and biochemical remission, including normalization of iron saturation levels. He is currently maintained on mycophenolate mofetil for long-term remission.

Conclusion: AIH can present with a variety of clinical symptoms, including unexplained liver dysfunction and elevated iron levels, making it challenging to distinguish from iron overload syndrome or hemochromatosis. Prompt diagnosis and treatment with steroids achieves biochemical remission, including normalization of iron overload.

Important Dates to Remember

JRRE Activities
2023-2024
Proposed Dates
Resumption of face-to-face Evidence-Based Medicine Workshop
Venue to be announced once finalized.
July 21, 2023 (Friday), 1-5pm
Monthly Critical Appraisal of Topics Conferences to be gaciliated by Research Coordinators per Institution Monthly Critical Appraisal of Topics Conferences per Institution
CAT Plenary/Liver Con Dates:
September 23, 2023
December 16, 2023
March 2024 (During the JAC)
Resumption of face-to-face Quarterly Critical Appraisal of Topics facilitated by the JRRE
2 Clinical scenarios and articles are to be sent to institutions each on August 2023, November 2023, and February 2024;
Hybrid Research Workshop 4 week asynchronous via Moodle, followed by a 1 day on-site Onsite Workshop Research Protocol Presentation for Level I GI Fellows-In-Training
- Research Protocol Presentation: August 12, 2023
- Research Forums of the Tripartite Societies
Week 1: July 15-21, 2023
Week 2: July 22-28, 2023
Week 3: July 29-August 4, 2023
Week 4: August 5-11, 2023
Research Manuscript Workshop for level II GI Fellows-In-Training January 6, 2024