American Board of Internal Medicine (ABIM) Certification Practice Exam

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What is a crucial component for diagnosing celiac disease?

  1. Positive imaging studies

  2. Positive serologic markers and a compatible small-bowel biopsy

  3. Positive family history of celiac disease

  4. Presence of gastrointestinal symptoms

The correct answer is: Positive serologic markers and a compatible small-bowel biopsy

The crucial component for diagnosing celiac disease involves the presence of positive serologic markers alongside a compatible small-bowel biopsy. Celiac disease is an autoimmune disorder that occurs in genetically predisposed individuals, leading to an inappropriate immune response to dietary gluten. Serologic tests, such as those measuring tissue transglutaminase antibodies (tTG-IgA) and endomysial antibodies (EMA), are initial screening tools that can indicate the presence of celiac disease when positive. However, for a definitive diagnosis, a small-bowel biopsy is required to assess the characteristic intestinal mucosal damage that occurs in response to gluten ingestion. This combination of serological testing and histological confirmation from a biopsy comprises the gold standard approach for diagnosing celiac disease. Other options are still relevant to the diagnostic process, but do not stand alone as definitive. For instance, a positive family history can support the diagnosis given the genetic component of celiac disease, while gastrointestinal symptoms may also prompt testing but are not exclusive or necessary for the diagnosis. Imaging studies generally do not play a role in diagnosing celiac disease. Hence, the integration of positive serologic tests with a biopsy result is essential for confirming the diagnosis.