What are the signs and symptoms of celiac disease?

Signs and Symptoms of Celiac Disease

Celiac disease presents with a wide range of gastrointestinal and extraintestinal manifestations, including diarrhea, weight loss, abdominal pain, chronic fatigue, and malnutrition due to malabsorption.

Gastrointestinal Symptoms

• Diarrhea - Most common symptom, typically responds within days to weeks of gluten elimination 1, 2
• Abdominal pain and bloating - Very common and responsive to gluten-free diet 2
• Weight loss or poor weight gain - Particularly notable in children 1
• Alternating diarrhea and constipation - Both responsive to gluten elimination 2
• Steatorrhea (fatty stools) - Present in approximately 20% of patients 2
• Nausea and vomiting 3
• Flatulence 4

Extraintestinal Manifestations

• Growth failure - Particularly important in pediatric patients 1
• Chronic fatigue - Common and can significantly impact quality of life 1
• Irritability - More commonly reported in children 1
• Inability to concentrate - Cognitive symptoms that may affect performance 1
• Iron deficiency anemia - Often the presenting feature leading to diagnosis 5
• Dermatitis herpetiformis - Pathognomonic skin manifestation of celiac disease 5
• Decreased bone mineral density - Due to calcium and vitamin D malabsorption 5
• Neuropathy - Neurological manifestations can occur 5

Special Considerations in Diabetic Patients

In patients with type 1 diabetes who also have celiac disease, additional symptoms may include:

• Unpredictable blood glucose levels 1
• Unexplained hypoglycemia 1
• Deterioration in glycemic control 1

Presentation Patterns

• Classic presentation: Diarrhea, steatorrhea, weight loss (becoming less common) 4, 5
• Atypical presentation: Extraintestinal manifestations with minimal or no gastrointestinal symptoms (increasingly recognized) 5, 6
• Silent presentation: Positive serology and villous atrophy without symptoms 3

Warning Signs of Complications

In patients with refractory celiac disease or complications, additional symptoms may include:

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

Clinical Pearls

• The prevalence of celiac disease is increasing worldwide (0.5-1% of general population) 3
• Women are more frequently affected than men 3
• Symptoms can develop at any age, not just in childhood 5
• Many patients have alternating diarrhea and constipation rather than persistent diarrhea 2
• Atypical presentations are now at least as common as classic presentations 2
• Symptoms typically respond rapidly to gluten elimination, with diarrhea resolving within an average of 4 weeks 2

Early recognition of these diverse manifestations is crucial for timely diagnosis and treatment, as untreated celiac disease can lead to significant morbidity including malnutrition, osteoporosis, infertility, and increased risk of small bowel cancer 4.