The patient is a 34-year-old Caucasian female who presents with a chief complaint of “abnormal liver labs”. She states that over the last six months she has lacked energy and is easily fatigued. She’s an avid cyclist, however this has become more difficult due to fatigue. She has no other complaints. Due to the severity of fatigue and its impact on her regular activities, she went to her primary care physician. Her evaluation, including abdominal ultrasound, was negative except for a mild elevation of the AST and ALT at 72 U/L and ALT 90 U/L respectively. Her platelet count, albumin, bilirubin, and alkaline phosphatase are all normal.
The patient is a 34-year-old Caucasian female who presents with a chief complaint of “abnormal liver labs”. She states that over the last six months she has lacked energy and is easily fatigued. She’s an avid cyclist, however this has become more difficult due to fatigue. She has no other complaints. Due to the severity of fatigue and its impact on her regular activities, she went to her primary care physician. Her evaluation, including abdominal ultrasound, was negative except for a mild elevation of the AST and ALT at 72 U/L and ALT 90 U/L respectively. Her platelet count, albumin, bilirubin, and alkaline phosphatase are all normal.
She has no chronic medical conditions. She does not take any medications, vitamins or herbal supplements. Her BMI is normal. She does not smoke tobacco. She drinks less than 7 alcoholic beverages per week. Her mother’s only significant medical condition is systemic lupus erythematosus. Her father has no chronic medical conditions. There is no family history of liver disease.
Additional blood work was ordered by her PCP including serologic testing for hepatitis A, B and C which were all negative. Iron studies were normal. Ceruloplasmin and alpha-1 anti-trypsin were normal. The anti-mitochondrial antibody was negative. The antinuclear antibody was positive at a ratio of 1:320. The anti-smooth muscle antibody was positive. The F actin antibody was negative.
Based on these findings a percutaneous liver biopsy was recommended. Histology revealed no fibrosis. A plasma cell infiltrate was noted.
The most likely diagnosis is?
A) Alcoholic hepatitis
B) Nonalcoholic fatty liver disease
C) Autoimmune hepatitis
D) Hereditary hemochromatosis
Correct answer is C. Autoimmune hepatitis (AIH).
Practice Pearls
AIH is a chronic liver disease characterized by abnormal transaminases (AST, ALT), auto antibodies and increased serum globulin levels.
AIH occurs predominantly in women and impacts all ethnic groups. It peaks between the second and sixth decades of life.
The pathogenesis is unclear. Possible etiologies include environmental triggers and genetic factors.
Clinical presentation ranges from asymptomatic to cirrhosis (small percentage of patients will require liver transplant).
Autoimmune diseases associated with AIH include systemic lupus erythematosus, celiac disease, autoimmune thyroiditis, and Type 1 diabetes mellitus. A family history of autoimmune disease could predispose children to autoimmune disease.
Lab abnormalities include abnormal AST, ALT (at least twice the upper limit of normal), positive antinuclear antibody (ANA), elevated gamma globulin, positive anti-smooth muscle antibody and positive F-Actin antibody.
ANA has high sensitivity; however, it has a low specificity and therefore should not, on its own, be used to make the diagnosis of AIH.
Routine liver biopsy is not necessary if the diagnosis is supported by strong clinical data. A liver biopsy should be performed if AIH is suspected and there is inconclusive clinical data, to establish baseline liver histology, evaluate the degree of fibrosis and for prognostic purposes over time. Histology on liver biopsy typically reveals lymphocytic infiltrates in portal areas and a plasma cell infiltrate.
Type 1 AIH is defined by a positive ANA, positive anti smooth muscle antibody or a positive F-Actin antibody.
Type 2 AIH is defined by atypical positive autoimmune antibodies including anti-liver cytosol antibody and anti-soluble liver antigen. These tests should be ordered if AIH is strongly suspected and there is minimal supporting data based on initial immunologic tests.
First line treatment includes glucocorticoid monotherapy with prednisolone (taper to maintenance dose of 20 mg daily) or combination therapy with low dose prednisolone (taper to maintenance dose of 10 mg daily) and azathioprine 50 mg daily. Overall prognosis is good in treated patients without advanced liver disease at initial presentation.
Remission of AIH is defined by resolution of symptoms if present, normalization of AST and ALT, resolution of gamma globulin levels and improved histology if liver biopsy is performed. Remission is attainable in up to 40% of patients.
If the patient is in remission, discontinuation of therapy can be considered at 18-24 months. However, the patient should be monitored for symptom recurrence and lab abnormalities. Recurrence is reported in 25-100% of patients over time.
Marjorie Hotopp, APN-BC
Rockford Gastroenterology Associates
Rockford, IL
Stacia Sackmaster, APN-BC
Rockford Gastroenterology Associates
Rockford, IL
Corrie Scott, APN-BC
Rockford Gastroenterology Associates
Rockford, IL
Joseph Vicari, MD, MBA, FASGE
Rockford Gastroenterology Associates
Rockford, IL
Stacia Sackmaster, APN-BC and Corrie Scott, APN-BC are Family Nurse Practitioners and Marjorie Hotopp, APN-BC is an Adult-Gerontology Acute Care Nurse Practitioner at Rockford Gastroenterology Associates, Ltd.
Joseph Vicari, MD, FASGE joined Rockford Gastroenterology in 1997 and has served as Managing Partner. He previously served as Chair of the ASGE Practice Operations Committee and is currently serves as Councilor on the ASGE Governing Board.