What are the symptoms of celiac disease?

Symptoms of Celiac Disease

Celiac disease presents with a wide range of gastrointestinal and extraintestinal symptoms, with diarrhea being the most common manifestation, though many patients present with atypical or non-classic symptoms. 1

Gastrointestinal Symptoms

• Diarrhea/loose stools - The most common symptom, typically responding within days to weeks of gluten elimination 1, 2
• Abdominal pain/cramps - Common and responsive to gluten-free diet 3, 2
• Bloating - Frequently reported and improves with gluten elimination 3, 2
• Weight loss or poor weight gain (particularly notable in children) 1, 4
• Nausea and vomiting 1
• Steatorrhea (fatty stools) - Present in about one-fifth of patients 2
• Alternating diarrhea and constipation - Both responsive to gluten-free diet 2

Extraintestinal Manifestations

• Fatigue - Common symptom significantly impacting quality of life 1
• Iron deficiency anemia - A frequent finding that may be the only presenting symptom 1, 4
• Dermatitis herpetiformis - A skin manifestation pathognomonic for celiac disease 1, 4
• Decreased bone mineral density - Due to malabsorption of calcium and vitamin D 1, 4
• Neurological symptoms - Including neuropathy 1
• Abnormal liver function tests - May be present without other symptoms 5

Pediatric-Specific Manifestations

• Growth failure/short stature - Significant concern in pediatric patients 1, 6
• Delayed puberty - Can occur in adolescents 6
• Irritability - More commonly reported in children 1
• Inability to concentrate - Cognitive symptom affecting school performance 1

Atypical Presentations

The American College of Gastroenterology (ACG) notes that atypical presentations of celiac disease are at least as common as the classic presentation of steatorrhea, diarrhea, and weight loss 3, 2. These include:

• Silent celiac disease - Patients may be asymptomatic despite having intestinal damage (the "celiac iceberg" phenomenon) 1
• Complications in type 1 diabetes - Unpredictable blood glucose levels, unexplained hypoglycemia, and deterioration in glycemic control 1
• Recurrent aphthous stomatitis (mouth ulcers) 6

Warning Signs of Complications

• Gastrointestinal bleeding
• Fever
• Night sweats
• Bowel obstruction
• Persistent nutritional deficiencies despite a gluten-free diet 1

Clinical Pitfalls to Avoid

1. Overlooking non-classic presentations: Up to 95% of celiac patients remain undiagnosed, often due to atypical symptoms 6

2. Testing after gluten elimination: All diagnostic serologic testing should be performed before a gluten-free diet is initiated 3

3. Ignoring persistent symptoms: Non-responsive celiac disease occurs frequently, particularly in those diagnosed in adulthood 5

4. Missing associated conditions: Celiac disease is associated with other autoimmune conditions, particularly type 1 diabetes 1

5. Inadequate follow-up: Despite a gluten-free diet, some patients may develop complications or refractory disease requiring additional management 4

Clinicians must maintain a high level of suspicion to detect the atypical forms of celiac disease, as the classic triad of diarrhea, steatorrhea, and weight loss is not present in many patients 2.