Histologically Confirmed Celiac Disease in a Multifactorial Primary-Care Presentation with Psychiatric, Musculoskeletal, and Hepatic Findings: A Case Report
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Abstract
Background/Objectives: Celiac disease (CD) is an immune-mediated enteropathy with gastrointestinal and extraintestinal manifestations. In primary care, recognition can be delayed when psychiatric symptoms, arthralgia, thyroid dysfunction, alcohol exposure, and liver-test abnormalities coexist. This case report describes a confounder-aware diagnostic approach to histologically confirmed CD in a patient with a multifactorial primary-care presentation. Methods: We report a single-patient, de-identified reflective case from routine family medicine practice, organized according to CARE case-report principles. Results: A woman in her early sixties with hypothyroidism and glaucoma presented with new low mood, anhedonia, somnolence, generalized anxiety, increased alcohol intake, poor appetite, weight loss, abdominal bloating, diarrhea, flatulence, and polyarthralgia. Initial investigations, including celiac serology obtained before gluten-free diet advice, showed mild anemia, marked hyperferritinemia, severe cholestatic and hepatocellular liver-test abnormalities, uncontrolled hypothyroidism, and strongly positive tissue transglutaminase IgA (>250 kIU/L; reference 0.0–14.9). Radiographs showed mild osteoarthritis and osteopenia without erosive arthropathy. Computed tomography excluded malignancy but showed severe diffuse hepatic steatosis and mild pancreatic atrophy. Mirtazapine was started at the index visit; after the initial laboratory results, gluten-free diet advice, alcohol-reduction counseling, and levothyroxine adjustment were undertaken. During the diagnostic episode, small-bowel biopsy demonstrated moderate-to-severe crypt hyperplastic villous atrophy with increased intraepithelial lymphocytes, and gastric biopsies showed no significant pathology; the histology was consistent with CD. Symptoms improved substantially. Longer-term objective follow-up showed persistent but improved celiac serology (tTG-IgA 49.4 kIU/L), normalization of thyroid-stimulating hormone, partial improvement in gamma-glutamyl transferase, which remained elevated, and a later iron-deficiency pattern with persistent anemia. Conclusions: This case supports targeted CD testing when anxiety or depressive symptoms occur alongside gastrointestinal symptoms, weight loss, arthralgia, hypothyroidism or documented thyroid autoimmunity, anemia, osteopenia, or liver-test abnormalities. Histology and repeat serology confirmed the diagnosis, but the psychiatric and hepatic manifestations still require cautious interpretation because hypothyroidism, alcohol exposure, steatotic liver disease, and simultaneous treatments also shaped the clinical course.
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This case report describes an almost 60-year-old woman who presented with new-onset anxiety/depression, weight loss, gastrointestinal symptoms, and joint pain. Her liver enzymes were markedly abnormal, she had hyperferritinemia, and her hypothyroidism was not well controlled. Her tTG-IgA was strongly positive (>16× ULN). Because the patient declined endoscopy/biopsy, we label this as "probable" celiac disease (CD). Most symptoms resolved within about 6 months on a gluten-free diet, with improvement in her liver abnormalities, after discontinuation of alcohol and adjustment of her thyroid medication for hypothyroidism.
The paper has a number of modest contributions to the field. It …
This Zenodo record is a permanently preserved version of a PREreview. You can view the complete PREreview at https://prereview.org/reviews/22788524.
This case report describes an almost 60-year-old woman who presented with new-onset anxiety/depression, weight loss, gastrointestinal symptoms, and joint pain. Her liver enzymes were markedly abnormal, she had hyperferritinemia, and her hypothyroidism was not well controlled. Her tTG-IgA was strongly positive (>16× ULN). Because the patient declined endoscopy/biopsy, we label this as "probable" celiac disease (CD). Most symptoms resolved within about 6 months on a gluten-free diet, with improvement in her liver abnormalities, after discontinuation of alcohol and adjustment of her thyroid medication for hypothyroidism.
The paper has a number of modest contributions to the field. It underlines the importance of CD in primary care. The case demonstrates that CD may present with psychiatric disturbances and abnormal liver function tests. The documentation of uncertainty is also of interest, as it models how to document diagnostic uncertainty in a transparent way when confirmatory testing is refused. The paper does not provide any new insights into the mechanisms of CD; it is an illustrative single case report and does not change current practice.
Major issues
No confirmed diagnosis: No confirmed diagnosis of CD was made in this case, as no duodenal biopsy was performed and no measurements of total IgA or endomysial antibodies were reported. Positive tTG-IgA in isolation can occur in other autoimmune or liver diseases, and therefore the causal narrative is weaker than the framing suggests.
Confounded improvement: Mirtazapine, thyroid correction, alcohol cessation, and GFD all started around the same time. The paper explicitly acknowledges this, but then still frames CD as the central story of the case, which is somewhat inconsistent.
Fatty liver/alcohol as competing explanation: As was already discussed above, severe hepatic steatosis and elevated GGT/ALT/AST values are as easily explained by alcohol consumption and fatty liver disease as they are by CD.
No repeat labs: We do not have follow-up tTG-IgA, liver enzyme, or ferritin levels, so we have no way of knowing whether the liver abnormalities have resolved or not, or whether they are CD-related.
Single case, no generalizability: As a case report, this study cannot support the "targeted screening" recommendation in the conclusion beyond a hypothesis-generating suggestion.
Minor issues
The abstract and conclusion have been written in almost identical terms and therefore provide little added value.
"Probable CD" (e.g., in Fig. 1) versus "working diagnosis of CD" (e.g., in Section 2.1) are used more or less interchangeably throughout the text and should be kept consistent, perhaps anchored to the Oslo definitions.
The differential diagnosis is given as a list without any ranking of the probabilities of the various alternatives.
Redundancy: Table 2 shows the same information as the preceding text.
Reference [10] (Oslo definitions) and references [11,12] were included in the reference list but were not cited in the main text; it is worth checking for orphaned citations.
Competing interests
The author declares that they have no competing interests.
Use of Artificial Intelligence (AI)
The author declares that they did not use generative AI to come up with new ideas for their review.
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