What are the symptoms of celiac disease?

Symptoms of Celiac Disease

Celiac disease presents with a wide spectrum of symptoms ranging from classic gastrointestinal manifestations to extraintestinal symptoms, with many patients remaining undiagnosed due to the non-specific nature of these symptoms. 1

Gastrointestinal Symptoms

• Diarrhea is one of the most common classic symptoms of celiac disease 1
• Abdominal pain frequently accompanies other gastrointestinal symptoms 1
• Weight loss or poor weight gain (particularly important in children) 1
• Bloating and flatulence are common complaints 1
• Nausea and vomiting may occur in some patients 1
• Malabsorption leading to nutritional deficiencies 1
• Steatorrhea (fatty, foul-smelling stools) due to fat malabsorption 2

Extraintestinal Symptoms

• Fatigue and weakness are common complaints that may be related to anemia or general malnutrition 1
• Iron deficiency anemia that may be resistant to oral iron supplementation 1, 3
• Growth failure in children is a significant concern 1
• Irritability and inability to concentrate, particularly noted in children 1
• Osteoporosis or decreased bone mineral density due to calcium and vitamin D malabsorption 3, 4
• Dermatitis herpetiformis - a skin condition that is pathognomonic for celiac disease 4
• Neurological manifestations including neuropathy 3, 4
• Reproductive issues including infertility and recurrent miscarriages 1, 3
• Elevated liver enzymes (transaminitis) without other clear cause 3

Special Considerations in Patients with Type 1 Diabetes

• Unpredictable blood glucose levels despite adherence to insulin regimen 1
• Unexplained hypoglycemia episodes 1
• Deterioration in glycemic control without obvious cause 1

Clinical Presentation Patterns

• Classic presentation: Primarily gastrointestinal symptoms including diarrhea, steatorrhea, weight loss, and abdominal pain 1
• Non-classic presentation: Less specific gastrointestinal symptoms or predominantly extraintestinal manifestations 3
• Silent or asymptomatic celiac disease: Diagnosed through screening of high-risk groups despite absence of symptoms 1
• Refractory celiac disease: Persistent symptoms and villous atrophy despite strict adherence to a gluten-free diet for at least 12 months 1

High-Risk Groups

• First-degree relatives of people with celiac disease 1
• Patients with type 1 diabetes (prevalence 1-16% compared to 0.3-1% in general population) 1
• Individuals with autoimmune thyroid disease 1
• Patients with Down syndrome 1
• Patients with unexplained iron deficiency anemia 3, 4

Clinical Pitfalls

• Many patients present with non-specific or extraintestinal symptoms rather than classic gastrointestinal complaints, leading to delayed diagnosis 1
• Only approximately 24% of those with celiac disease are diagnosed, creating a "celiac iceberg" of undiagnosed cases 1
• Symptoms can vary significantly between children and adults, with children more likely to present with classic symptoms 1, 3
• Patients on a gluten-free diet before testing may have false negative results on serological tests 1
• Symptoms may overlap with other gastrointestinal disorders such as irritable bowel syndrome, lactose intolerance, or microscopic colitis 1

Early recognition of these diverse symptoms is crucial as untreated celiac disease can lead to serious complications including osteoporosis, infertility, and small bowel cancer 1.