Celiac Disease Differential Diagnosis

When considering a differential diagnosis for celiac disease, it's crucial to evaluate various conditions that may present with similar symptoms or have overlapping pathophysiological mechanisms. The differential diagnosis can be categorized as follows:

• Single Most Likely Diagnosis
  • Irritable Bowel Syndrome (IBS): Often considered due to overlapping gastrointestinal symptoms such as abdominal pain, diarrhea, and bloating, although the pathophysiology and management differ significantly.
• Other Likely Diagnoses
  • Inflammatory Bowel Disease (IBD): Conditions like Crohn's disease and ulcerative colitis can present with similar gastrointestinal symptoms and may require differentiation through endoscopic and histological examinations.
  • Lactose Intolerance: Symptoms of lactose intolerance, such as bloating, gas, and diarrhea after consuming lactose-containing products, can mimic those of celiac disease, especially in individuals with untreated celiac disease who may also have lactose malabsorption.
  • Small Intestine Bacterial Overgrowth (SIBO): Can cause similar gastrointestinal symptoms and may be associated with or exacerbated by untreated celiac disease.
• Do Not Miss Diagnoses
  • Whipple's Disease: A rare, systemic bacterial infection that can cause malabsorption, weight loss, and diarrhea, among other symptoms, and requires prompt antibiotic treatment.
  • Giardiasis: An intestinal infection by Giardia lamblia that can lead to chronic diarrhea and malabsorption, similar to celiac disease, and is treatable with antiparasitic medications.
  • Immunodeficiency States: Certain immunodeficiencies can increase the risk of gastrointestinal infections and malabsorption syndromes, mimicking celiac disease.
• Rare Diagnoses
  • Tropical Sprue: A rare condition characterized by malabsorption and gastrointestinal symptoms, typically acquired in tropical regions, which may resemble celiac disease.
  • Autoimmune Enteropathy: A rare condition involving autoimmune damage to the small intestine, leading to severe diarrhea and malabsorption.
  • Eosinophilic Gastroenteritis: Involves eosinophilic infiltration of the gastrointestinal tract, which can cause a variety of symptoms including abdominal pain, diarrhea, and malabsorption, depending on the layer of the gastrointestinal wall involved.

Each of these conditions requires careful consideration based on clinical presentation, laboratory findings, and response to treatment to accurately diagnose and manage patients suspected of having celiac disease.