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[Celiac disease is a 33-year-old man with periodic disease]

L M Krums, E V Golovanova, S G Khomeriki

    Eksperimental'Naia I Klinicheskaia Gastroenterologiia = Experimental & Clinical Gastroenterology
    |July 27, 2012
    PubMed

    Insights

    This case study details a 33-year-old man with two rare conditions: Familial Mediterranean fever and celiac disease. Genetic markers confirmed Familial Mediterranean fever, while duodenal biopsy confirmed celiac disease.

    Area of Science:

    • Internal Medicine
    • Genetics
    • Gastroenterology

    Background:

    • Familial Mediterranean fever (FMF) is a rare autoinflammatory disorder.
    • Celiac disease is an autoimmune disorder triggered by gluten.
    • Co-occurrence of these rare conditions presents diagnostic and management challenges.

    Observation:

    • A 33-year-old Armenian male presented with symptoms suggestive of both FMF and celiac disease.
    • Clinical presentation included abdominal pain and fever, characteristic of the abdominal-feverish form of FMF.
    • Diagnostic workup involved genetic testing and duodenal biopsy.

    Findings:

    • Genetic analysis confirmed the diagnosis of Familial Mediterranean fever.
    • Morphological examination of duodenal mucosa specimens revealed changes consistent with celiac disease.
    • The patient was diagnosed with both rare conditions concurrently.

    Implications:

    • This case highlights the importance of considering multiple rare diseases in patients with complex symptoms.
    • Genetic confirmation of FMF and histological evidence of celiac disease underscore the need for comprehensive diagnostic approaches.
    • Understanding the interplay between these conditions can inform future clinical management strategies for similar cases.

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