Signs and Symptoms of Celiac Disease
Celiac disease presents with a wide range of gastrointestinal and extraintestinal manifestations, with many patients showing non-classic symptoms or even being asymptomatic.
Gastrointestinal Symptoms
- Diarrhea is one of the most common classic symptoms of celiac disease, frequently accompanied by abdominal pain 1
- Weight loss or poor weight gain is a significant concern, particularly important in children with celiac disease 1
- Bloating and flatulence are common complaints in patients with celiac disease 1
- Malabsorption leading to nutritional deficiencies is a hallmark issue in celiac disease 1, 2
- Nausea and vomiting may occur in some patients 1
- Steatorrhea (fatty stools) may be present in cases with significant malabsorption 3
Extraintestinal Manifestations
- Iron deficiency anemia that may be resistant to oral iron supplementation is a common presentation 1, 2
- Fatigue and weakness are frequent complaints, often related to anemia or general malnutrition 1
- Growth failure in children is a significant concern that may be the primary presenting feature 1, 4
- Irritability and inability to concentrate, particularly noted in children 1
- Reproductive issues including infertility and recurrent miscarriages 1, 2
- Osteoporosis or osteomalacia due to calcium and vitamin D malabsorption 2
- Abnormal liver function tests (transaminitis) 2
- Dermatitis herpetiformis - an itchy, blistering skin condition 4, 5
- Neurological manifestations including neuropathy and ataxia 5
Clinical Presentation Patterns
- Classic presentation includes primarily gastrointestinal symptoms such as diarrhea, weight loss, and abdominal pain 1
- Non-classic (atypical) presentation is characterized by few or no gastrointestinal symptoms with predominating extraintestinal features 5
- Silent or asymptomatic celiac disease may be diagnosed through screening of high-risk groups despite absence of symptoms 1
- Refractory celiac disease is characterized by persistent symptoms and villous atrophy despite strict adherence to a gluten-free diet for at least 12 months 4
Special Considerations in High-Risk Groups
- Patients with type 1 diabetes may present with unpredictable blood glucose levels, unexplained hypoglycemia, or deterioration in glycemic control 4, 1
- First-degree relatives of people with celiac disease are at increased risk and may require screening even with minimal symptoms 1
- Patients with autoimmune thyroid disease may have concurrent celiac disease 1
- Individuals with Down syndrome have higher prevalence of celiac disease 1
Clinical Pitfalls and Diagnostic Challenges
- Many patients present with non-specific or extraintestinal symptoms rather than classic gastrointestinal complaints, leading to delayed diagnosis 1, 6
- Approximately 76% of celiac disease cases remain undiagnosed, creating a "celiac iceberg" of unrecognized cases 1
- Symptoms may overlap with other gastrointestinal disorders such as irritable bowel syndrome, lactose intolerance, or microscopic colitis 1, 4
- Patients who have already started a gluten-free diet before testing may have false negative results on serological tests 1
- Persistent or recurrent symptoms despite gluten-free diet should prompt evaluation for ongoing gluten exposure, other gastrointestinal conditions, or complications of celiac disease 4
Diagnostic Approach
- Initial screening with IgA tissue transglutaminase (tTG) antibodies and total serum IgA levels 4, 2
- In IgA-deficient patients, IgG to tTG and deamidated gliadin antibodies should be measured 4
- Confirmation typically requires esophagogastroduodenoscopy with small bowel biopsies showing villous atrophy, intraepithelial lymphocytosis, and crypt hyperplasia 4, 2
- Genetic testing for HLA-DQ2 or HLA-DQ8 can be helpful in select cases, as their absence makes celiac disease highly unlikely 2