Autoimmune Hepatitis: Diagnostic Dilemma When It Is Disguised as Iron Overload Syndrome

Abstract

Elevated serum ferritin level is a common finding in iron overload syndrome, autoimmune and viral hepatitis, alcoholic and nonalcoholic fatty liver diseases. High transferrin saturation is not a common finding in above diseases except for iron overload syndrome. We encountered a challenging case of 73-year-old female who presented with yellowish discoloration of skin, dark color urine and dull abdominal pain. Initial laboratory tests reported mild anemia; elevated bilirubin, liver enzymes, and transferrin saturation. We came to the final diagnosis of autoimmune hepatitis after extensive workups. Autoimmune hepatitis is a rare disease, and the diagnosis can be further complicated by a similar presentation of iron overload syndrome. Markedly elevated transferrin saturation can simulate iron overload syndrome, but a liver biopsy can guide physicians to navigate the diagnosis.

Autoimmune Hepatitis in the Setting of Iron Overload Secondary to Heterozygous HFE Gene Mutation

“…AIH is a chronic inflammatory condition that is around four times more common in women than in men [1,2] and can be associated with other autoimmune diseases [3]. It can affect individuals of any age but most frequently affects middle-aged adults.…”

“…However, in rare cases, AIH has been found to be associated with iron overload secondary to heterozygous HFE gene mutations. The iron overload can make it challenging to establish an early diagnosis of AIH given both diseases lead to significantly elevated aspartate aminotransferases (AST) and alanine aminotransferases (ALT) at >800s to 1,000s, requiring the need for liver biopsy for definitive diagnoses of AIH, which may result in a delay in the treatment of AIH [1,2].…”

The Asian Pacific Association for the Study of the Liver clinical practice guidance: the diagnosis and management of patients with autoimmune hepatitis

“…Hereditary metabolic liver disease, such as Wilson disease [ 193 ], hemochromatosis [ 194 ] can present the features of AIH, and in some AIH patients, laboratory tests showed elevated serum ferritin level, even have a heterozygous C282Y mutation [ 195 ].…”

Ultrasound findings in autoimmune hepatitis

“…Its clinical symptoms range from no obvious manifestations to severe and acute hepatitis [ 4 , 17 ]. Clinical manifestations range from merely elevated transaminases to liver cirrhosis and/or fulminant liver failure requiring liver transplantation[ 18 ]. Acute AIH presents in approximately 25% patients with similar symptoms as patients suffering from acute toxic or viral hepatitis[ 19 ].…”