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Case in Point

Celiac Disease Presenting as Mild Transaminase Elevation

Introduction. A 9-year-old boy with cystic fibrosis (CF) and pancreatic insufficiency presented to the pulmonology clinic with mildly elevated transaminases and was subsequently found to have celiac disease.

Celiac disease is an immune-mediated disorder that causes inflammation in the gastrointestinal tract.1,2 It is triggered by the ingestion of gluten, a protein component in wheat, barley, and rye. The prevalence of celiac disease ranges between 0.3% to 3% worldwide.1,3 In the United States, prevalence is close to 1%.4 Rubio-Tapia and colleagues found that 90% of participants in the National Health and Nutrition Examination Survey from 2009-2010 who had abnormal celiac serologies were previously unaware of their diagnosis.4

The clinical presentation of celiac disease can vary among the general population (children and adults) and can be characterized as “Typical,” “Atypical,” “Silent,” or “Potential” forms.1 The “typical” presentation consists of gastrointestinal symptoms. These include vomiting, abdominal pain or bloating, diarrhea or weight loss. Alternatively, “atypical” symptoms involve extraintestinal systems such as elevated liver enzymes, short stature, dental enamel defects or delayed puberty. “Silent” and “potential” forms of celiac disease may account for the underdiagnosis of the condition. Those who are asymptomatic but have abnormal celiac serologies and characteristic intestinal biopsies are distinguished as having “silent” celiac disease. Lastly, “potential” forms have abnormal blood serologies, but biopsies do not show the characteristic intestinal inflammation.1

Current clinical guidelines for evaluation of elevated serum alanine aminotransferase (ALT) and serum aspartate aminotransferase (AST) include testing for viral hepatitis, metabolic dysfunction-associated steatosis liver disease, autoimmune hepatitis, Wilson disease, alpha-1 antitrypsin deficiency, and assessing for medication-induced injury.5 Screening for celiac disease in this work-up has not been common practice. However, Rubio-Tapia and Murray found that about 9% of patients with unexplained transaminitis were eventually found to have celiac disease.6 In this case report, we highlight a pediatric patient with CF who was diagnosed with celiac disease through investigation of elevated liver enzymes. 

Case Presentation. A 9-year-old boy with CF and pancreatic insufficiency diagnosed at 2 years old is followed in the multidisciplinary cystic fibrosis clinic. We obtained routine annual CF laboratory findings when the patient was 8 years old, and the results showed elevated liver enzymes: AST 66 U/L, ALT 64 U/L, and total bilirubin 1.3 mg/dL. Repeat levels a month later showed further increases in AST, ALT, and bilirubin to 76 U/L, 82 U/L, and 1.8 mg/dL, respectively. The patient did not report gastrointestinal symptoms, such as abdominal pain, bloating, diarrhea, or weight loss. His most recent pulmonary function test showed a decline, and the bronchoscopy identified persistent inflammation and tracheo-bronchomalacia. His pulmonary regimen included albuterol, dornase alfa, and hypertonic saline, followed by vest therapy and a mucus clearance device. His pulmonology team recommended adding lumacaftor/ivacaftor (Orkambi® Vertex Pharmaceuticals) an FDA-approved medication used to treat CF, and azithromycin as an anti-inflammatory agent. He was maintained on pancrelipase (Abbvie) for pancreatic insufficiency.

The gastroenterology team was consulted for liver transaminitis and clearance prior to starting lumacaftor/ivacaftor. He had not been previously worked up for his transaminitis. Initial blood testing including evaluation for viral hepatitis, alpha-1 antitrypsin deficiency, Wilson disease, and autoimmune liver disease along with celiac serologies was recommended. The team further recommended measuring celiac serologies given 13% to 60% of untreated celiac disease have been associated with elevation in liver enzymes.6.7    His celiac serologies came back abnormal including serum transglutaminase IgA 37 units/mL, transglutaminase IgG >100 units/mL, and positive endomysial IgA antibody with 1:40 titers. His total IgA level was low at 42mg/dL (normal range, 64-246 mg/dL).

An esophagogastroduodenoscopy with biopsies showed increased intraepithelial lymphocytes and partial villous blunting, confirming the diagnosis of celiac disease. His remaining bloodwork for Wilson disease, viral hepatitis, Epstein-Barr virus, autoimmune hepatitis, and alpha-1 antitrypsin deficiency was all negative. The patient started a strict gluten-free diet after the results were back. Upon control of his celiac disease with his new diet, he had normalization of his celiac markers and liver enzymes.

Discussion. Elevated AST and ALT are markers of hepatocellular injury that warrants further investigation. Chronically elevated ALT has been associated with liver-related mortality.5 In developed countries, metabolic dysfunction-associated steatosis liver disease is the most common cause of transaminitis in children.8 Our patient did not have the risk factors or meet criteria for this condition.

Among patients with celiac disease and liver involvement, celiac disease-related hepatitis was identified in nearly 50% of cases.9 Celiac hepatitis is characterized by elevation of transaminases 3-5 times the upper limit of normal. Resolution of the abnormal liver enzymes with a gluten-free diet confirms this diagnosis.6

In this patient, normalization of liver enzymes after initiation of a strict gluten-free diet supported celiac disease–related liver involvement. Although the underlying pathophysiology of transaminitis secondary to celiac disease is not yet well known, it has been suggested that increased intestinal permeability from poorly controlled celiac disease may serve as an entry point of toxin, microbial and other mediators. These agents may subsequently cause injury to the liver.6,10

Our patient had a known history of CF prior to his diagnosis of celiac disease. Prior literature suggests that patients with CF may be more susceptible to developing celiac disease, likely from the complex interactions between immunologic and environmental factors.11 In patients with CF, one proposed mechanism suggests that CFTR dysfunction results in chronic intestinal mucosal damage and pancreatic exocrine insufficiencies. In turn, the body sees an overload of undigested nutrients such as proteins and elicits a subsequent T-cell mediated immunological response to gluten.12 Supporting this hypothesis, a retrospective study in Turkey showed a prevalence of 1.4% of co-existing CF and celiac disease in their institution. Notably, all the affected patients had pancreatic insufficiency further implicating that undigested nutrients and increased intestinal permeability may play a role in developing celiac disease.12 At the time our patient was initially found to have elevated liver enzyme, he had uncontrolled CF, given his declining pulmonary function test and pancreatic insufficiency. This clinical context raises the possibility that compromised intestinal mucosa and increased antigen exposure may have predisposed him to mounting an immune response to gluten.

Our 9-year-old patient was diagnosed with celiac disease upon evaluation of his mildly elevated AST and ALT levels. He did not present with intestinal malabsorption signs of celiac disease that is sometimes present. In summary, clinicians should consider sending celiac serologies when evaluating for transaminitis of unknown etiology in pediatric patients. This is especially important in those with concurrent conditions that predispose them to gastrointestinal dysfunction, such as CF. This practice may support early detection of celiac disease in selected patients with otherwise unexplained transaminitis.

AUTHORS
Glydel Ann Lopez, MD1,2; Anup Patel, MD2

AFFILIATIONS
1Department of Pediatrics University of California Irvine, 1001 Health Sciences Rd, Irvine, CA 92617
2Rady Children’s Hospital of Orange County, 1201 W La Veta Ave, Orange, CA 92868

CITATION
Lopez GA, Patel A. Celiac Disease Presenting as Mild Transaminase Elevation. Consultant. Published online. June 1, 2026. DOI: 10.25270/con.2026.05.000002
Received January 12, 2026.  Accepted March 13, 2026.

DISCLOSURES
The authors declare no conflicts of interest.

ACKNOWLEDGMENTS
None.

CORRESPONDING AUTHOR
Anup Patel, MD, Pediatric Gastroenterology, Rady Children’s Hospital of Orange County, 1201 La Veta Ave. Orange, CA 92868 (Email: apatel@choc.org)

References

  1. Guandalini S. The approach to celiac disease in children. Int J Pediatr Adolesc Med. 2017 Sep;4(3):124-127. doi: 10.1016/j.ijpam.2017.08.002.
  2. Bingham SM, Bates MD. Pediatric celiac disease: A review for non-gastroenterologists. Curr Probl Pediatr Adolesc Health Care. 2020 May;50(5):100786. doi: 10.1016/j.cppeds.2020.100786.
  3. Gatti S, Rubio-Tapia A, Makharia G, Catassi C. Patient and community health global burden in a world with more celiac disease. Gastroenterology. 2024 Jun;167(1):23-33. doi: 10.1053/j.gastro.2024.01.035.
  4. Rubio-Tapia A, Ludvigsson JF, Brantner TL, Murray JA, Everhart JE. The prevalence of celiac disease in the United States. Am J Gastroenterol. 2012 Oct;107(10):1538-44; quiz 1537, 1545. doi: 10.1038/ajg.2012.219.
  5. Kwo PY, Cohen SM, Lim JK. ACG Clinical guideline: evaluation of abnormal liver chemistries. Am J Gastroenterol. 2017 Jan;112(1):18-35. doi: 10.1038/ajg.2016.517.
  6. Rubio-Tapia A, Murray JA. The liver and celiac disease. Clin Liver Dis. 2019 May;23(2):167-176. doi: 10.1016/j.cld.2018.12.001.
  7. Costa JM, Pinto SM, Santos-Silva E, Moreira-Silva H. Incidental hypertransaminasemia in children-a stepwise approach in primary care. Eur J Pediatr. 2023 Apr;182(4):1601-1609. doi: 10.1007/s00431-023-04825-4.
  8. Abdo A, Meddings J, Swain M. Liver abnormalities in celiac disease. Clin Gastroenterol Hepatol. 2004 Feb;2(2):107-12. doi: 10.1016/s1542-3565(03)00313-6.
  9. Jena A, Kumar-M P, Kumar A, Birda CL, Choudhury A, Kumar N, Ramai D, Facciorusso A, Samanta J. Liver abnormalities in celiac disease and response to gluten free diet: A systematic review and meta-analysis. J Gastroenterol Hepatol. 2023 Jan;38(1):11-22. doi: 10.1111/jgh.16039.
  10. Novacek G, Miehsler W, Wrba F, Ferenci P, Penner E, Vogelsang H. Prevalence and clinical importance of hypertransaminasaemia in coeliac disease. Eur J Gastroenterol Hepatol. 1999 Mar;11(3):283-8. doi: 10.1097/00042737-199903000-00012.
  11. Imrei M, Németh D, Szakács Z, Hegyi P, Kiss S, Alizadeh H, Dembrovszky F, Pázmány P, Bajor J, Párniczky A. Increased prevalence of celiac disease in patients with cystic fibrosis: a systematic review and meta-analysis. J Pers Med. 2021 Aug 28;11(9):859. doi: 10.3390/jpm11090859.
  12. Emiralioglu N, Ademhan Tural D, Hizarcioglu Gulsen H, Ergen YM, Ozsezen B, Sunman B, Saltık Temizel İ, Yalcin E, Dogru D, Ozcelik U, Kiper N. Does cystic fibrosis make susceptible to celiac disease? Eur J Pediatr. 2021 Sep;180(9):2807-2813. doi: 10.1007/s00431-021-04011-4.

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