October 2020 - What's the diagnosis?

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Answer: Celiac hepatitis

Endoscopic biopsy of this severely scalloped duodenal mucosa demonstrated characteristic findings of gluten-sensitive enteropathy, or celiac disease. Celiac disease involvement of the liver is a common extraintestinal manifestation of this immune-mediated disorder, termed celiac hepatitis. Celiac hepatitis affects 40% of adults with celiac disease.1 The pathogenesis is poorly understood, but posited to be related to autoimmunity or toxin-mediated liver injury in the setting of gluten exposure, gut permeability, chronic inflammation, and host susceptibility, among other mechanisms.1-3

Clinical manifestations of celiac hepatitis range from unexplained enzyme elevations in the absence of known liver disease to autoimmune hepatitis to hepatic steatosis, and even cirrhosis.1 The initial presentation can also be elevated liver enzymes in the setting of known celiac disease, without known hepatic disease. Histology of the liver is similarly variable, from a mild or a chronic hepatitis to steatohepatitis and even fibrosis.2 Elevated transaminases less than five times the upper limit of normal when found at celiac diagnosis suggest celiac hepatitis, and do not require further workup.1 For these individuals, response to a gluten-free diet should be monitored and liver chemistries should be repeated at 6–12 months. Persistently elevated aminotransferases should prompt further workup.1 Generally, enzyme elevation and even the histologic appearance of the liver improve after implementation of a gluten-free diet, although not all.2 In celiac hepatitis associated with autoimmune liver disease, immunosuppression may be required in addition to abstaining from gluten.3 Our patient was found to have a tissue transglutaminase level > 100 U/mL (normal, < 4 U/mL). He began a gluten-free diet guided by a nutritionist 4 weeks ago, with rapid improvement in abdominal symptoms, and will be followed to ensure normalization of liver enzymes, which can take up to 1 year.
 

References

1. Rubio-Tapia A, Murray JA. Liver involvement in celiac disease. Minerva Med. 2008;99:595-604.

2. Majumdar K, Sakhuja P, Puri AS, et al. Coeliac disease and the liver: spectrum of liver histology, serology and treatment response at a tertiary referral centre. J Clin Pathol. 2018;71:412-9.

3. Marciano F, Savoia M, Vajro P. Celiac disease-related hepatic injury: insights into associated conditions and underlying pathomechanisms. Dig Liver Dis. 2016;48:112-9.
 

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Answer: Celiac hepatitis

Endoscopic biopsy of this severely scalloped duodenal mucosa demonstrated characteristic findings of gluten-sensitive enteropathy, or celiac disease. Celiac disease involvement of the liver is a common extraintestinal manifestation of this immune-mediated disorder, termed celiac hepatitis. Celiac hepatitis affects 40% of adults with celiac disease.1 The pathogenesis is poorly understood, but posited to be related to autoimmunity or toxin-mediated liver injury in the setting of gluten exposure, gut permeability, chronic inflammation, and host susceptibility, among other mechanisms.1-3

Clinical manifestations of celiac hepatitis range from unexplained enzyme elevations in the absence of known liver disease to autoimmune hepatitis to hepatic steatosis, and even cirrhosis.1 The initial presentation can also be elevated liver enzymes in the setting of known celiac disease, without known hepatic disease. Histology of the liver is similarly variable, from a mild or a chronic hepatitis to steatohepatitis and even fibrosis.2 Elevated transaminases less than five times the upper limit of normal when found at celiac diagnosis suggest celiac hepatitis, and do not require further workup.1 For these individuals, response to a gluten-free diet should be monitored and liver chemistries should be repeated at 6–12 months. Persistently elevated aminotransferases should prompt further workup.1 Generally, enzyme elevation and even the histologic appearance of the liver improve after implementation of a gluten-free diet, although not all.2 In celiac hepatitis associated with autoimmune liver disease, immunosuppression may be required in addition to abstaining from gluten.3 Our patient was found to have a tissue transglutaminase level > 100 U/mL (normal, < 4 U/mL). He began a gluten-free diet guided by a nutritionist 4 weeks ago, with rapid improvement in abdominal symptoms, and will be followed to ensure normalization of liver enzymes, which can take up to 1 year.
 

References

1. Rubio-Tapia A, Murray JA. Liver involvement in celiac disease. Minerva Med. 2008;99:595-604.

2. Majumdar K, Sakhuja P, Puri AS, et al. Coeliac disease and the liver: spectrum of liver histology, serology and treatment response at a tertiary referral centre. J Clin Pathol. 2018;71:412-9.

3. Marciano F, Savoia M, Vajro P. Celiac disease-related hepatic injury: insights into associated conditions and underlying pathomechanisms. Dig Liver Dis. 2016;48:112-9.
 

 

Answer: Celiac hepatitis

Endoscopic biopsy of this severely scalloped duodenal mucosa demonstrated characteristic findings of gluten-sensitive enteropathy, or celiac disease. Celiac disease involvement of the liver is a common extraintestinal manifestation of this immune-mediated disorder, termed celiac hepatitis. Celiac hepatitis affects 40% of adults with celiac disease.1 The pathogenesis is poorly understood, but posited to be related to autoimmunity or toxin-mediated liver injury in the setting of gluten exposure, gut permeability, chronic inflammation, and host susceptibility, among other mechanisms.1-3

Clinical manifestations of celiac hepatitis range from unexplained enzyme elevations in the absence of known liver disease to autoimmune hepatitis to hepatic steatosis, and even cirrhosis.1 The initial presentation can also be elevated liver enzymes in the setting of known celiac disease, without known hepatic disease. Histology of the liver is similarly variable, from a mild or a chronic hepatitis to steatohepatitis and even fibrosis.2 Elevated transaminases less than five times the upper limit of normal when found at celiac diagnosis suggest celiac hepatitis, and do not require further workup.1 For these individuals, response to a gluten-free diet should be monitored and liver chemistries should be repeated at 6–12 months. Persistently elevated aminotransferases should prompt further workup.1 Generally, enzyme elevation and even the histologic appearance of the liver improve after implementation of a gluten-free diet, although not all.2 In celiac hepatitis associated with autoimmune liver disease, immunosuppression may be required in addition to abstaining from gluten.3 Our patient was found to have a tissue transglutaminase level > 100 U/mL (normal, < 4 U/mL). He began a gluten-free diet guided by a nutritionist 4 weeks ago, with rapid improvement in abdominal symptoms, and will be followed to ensure normalization of liver enzymes, which can take up to 1 year.
 

References

1. Rubio-Tapia A, Murray JA. Liver involvement in celiac disease. Minerva Med. 2008;99:595-604.

2. Majumdar K, Sakhuja P, Puri AS, et al. Coeliac disease and the liver: spectrum of liver histology, serology and treatment response at a tertiary referral centre. J Clin Pathol. 2018;71:412-9.

3. Marciano F, Savoia M, Vajro P. Celiac disease-related hepatic injury: insights into associated conditions and underlying pathomechanisms. Dig Liver Dis. 2016;48:112-9.
 

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Question: A 24-year-old white man with depression and anxiety disorder is referred for an isolated alanine aminotransferase elevation found by his primary medical doctor on routine blood work. He denies a family history of liver disease, although he does report a family history of lupus. He denies risk factors for viral hepatitis. He drinks about three alcoholic beverages per week. His family is originally from Germany and Ireland. He denies use of over-the-counter medications or supplements beyond a rare use of ibuprofen. His only medication is daily escitalopram. On further questioning he also reports abdominal pain. The abdominal pain is described as dull, constant, right upper quadrant pain near his rib cage. The pain occasionally becomes worse if he eats fast foods. He also notes a 3-month history of bloating and alternating bowel habits between diarrhea and constipation. 
Physical examination is notable for unremarkable vital signs and a normal body mass index. He has no stigmata of chronic liver disease or hepatomegaly. He has normal bowel sounds without any tenderness to palpation. An in-office FibroScan is normal with a value of 3 kPa. Aspartate aminotransferase is 33 U/L (normal, 10-40 U/L). Viral serologies are notable for nonreactive hepatitis B surface antigen, surface antibody, and core antibody. Hepatitis C virus RNA is undetectable. Ferritin, iron, and creatine kinase are normal. Thyroid-stimulating hormone, antimitochondrial antibody, and antinuclear antibody are negative. Ceruloplasmin is normal and alpha-1 antitrypsin showed MZ phenotype. An abdominal ultrasound scan shows a normal size liver, normal echotexture, and sludge in the gallbladder, without any intrahepatic or extrahepatic bile duct dilation. The extrahepatic bile duct diameter is 0.3 cm. 
Antismooth muscle and quantitative immunoglobulin tests were ordered. An endoscopy is performed for abdominal pain, and duodenal endoscopic and histologic images are provided.

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