Advertisement

A Case of Multiple Misdiagnoses in a Septuagenarian

      To the Editor:
      Often, common variable immunodeficiency can prove to be a diagnostic enigma for physicians due to its wide spectrum of presentation. Furthermore, the relatively low prevalence of the disease in geriatric patients poses a challenge to its early diagnosis and treatment. Here, we describe a unique case of gastrointestinal manifestations of common variable immunodeficiency misdiagnosed as celiac disease, lymphocytic colitis, and as recurrent Campylobacter colitis in a septuagenarian.

      Case Summary

      A 76-year-old man presented to our outpatient department with a 4-month history of watery, nonbloody diarrhea, nausea, and frequent postprandial nonbloody vomiting, causing numerous episodes of dehydration requiring hospitalization. He denied any travel history and reported no new prescribed or over-the-counter medications. There were no associated symptoms; specifically, no fever, jaundice, abdominal pain, or new rash. During his outside hospitalizations, his stool cultures repeatedly grew Campylobacter, for which he had been treated with different antimicrobial drugs (erythromycin, ciprofloxacin, and Bactrim) over time. Susceptibility profile of the Campylobacter strain disclosed the bacteria to be sensitive to the antibiotics being administered to the patient. Apart from this, a plethora of investigations were unremarkable, including laboratory tests, abdominal imaging, and upper and lower endoscopies.
      We repeated upper endoscopy and colonoscopy with mucosal endoscopic biopsies from stomach, duodenum, jejunum, and colon. Pathology revealed duodenal and jejunal mucosa with villous blunting and increased intraepithelial lymphocytes. Gastric mucosa also revealed increased intraepithelial lymphocytes. Random colon biopsies were reported to be consistent with lymphocytic colitis. At this juncture, diagnosis of celiac disease with associated lymphocytic colitis was given to the patient even though his celiac serology (antigliadin immunoglobulin (Ig)A and IgG, tissue transglutaminase IgA, endomysial IgA) was negative. However, despite the institution of gluten-free diet and antidiarrheal agents, the patient's symptoms persisted.
      Further, detailed past history was sought, and he disclosed history of recurrent episodes of bronchitis and sinusitis. Genetic testing for celiac risk genes was found to be negative for celiac genes (HL-DQ2, -DQ8).
      As the case unraveled, immunological profile of this patient was tested. The results showed hypogammaglobunemia with low IgG 424 mg/dL (717-1411 mg/dL), low IgM 27 mg/dL (53-334 mg/dL), and a normal IgA level, consistent with the diagnosis of common variable immunodeficiency.
      The patient was started on intravenous immunoglobin therapy, and he reported complete resolution of his gastrointestinal symptoms at 4-week follow-up. We continue to follow him, and he has not had recurrent symptoms as of the 18-month follow-up.

      Discussion

      This unique case highlights the rare presentation and gastrointestinal manifestation of common variable immunodeficiency in an elderly patient. There were numerous “red herrings” before the eventual diagnosis could be reached. The Campylobacter was possibly only an epiphenomenon, a commensal in the colon.
      Celiac disease and lymphocytic colitis turned out to be 2 other misdiagnoses. The gastrointestinal manifestations of common variable immunodeficiency include a celiac sprue-like disease in 50% of the patients presenting as chronic diarrhea and malabsorption.
      • Kalha I.
      • Sellin J.H.
      Common variable immunodeficiency and the gastrointestinal tract.
      However, the immunological profile and celiac serology of the patient differs in these 2 entities. Furthermore, lack of celiac disease risk genes (HLA-DQ2 and HLA-DQ8) ensured the absence of celiac disease in our patient.

      Conclusion

      This case illustrates the significance of accurately distinguishing between gastrointestinal manifestations of common variable immunodeficiency and celiac disease.
      The former is overlooked frequently as a cause of recurrent infections leading to a considerable delay between the manifestation of symptoms and the actual diagnosis. It is, thus, important that physicians maintain a high level of suspicion for the disease (even in geriatric patients), which would ultimately contribute to its early diagnosis and reduction in patient morbidity.

      Reference

        • Kalha I.
        • Sellin J.H.
        Common variable immunodeficiency and the gastrointestinal tract.
        Curr Gastroenterol Rep. 2004; 6: 377-383