Celiac disease is an autoimmune condition triggered by gluten, a protein in wheat, barley, and rye. Consuming gluten leads to an immune response that damages the small intestine. While many people associate celiac disease with classic digestive problems, a form known as “atypical celiac disease” presents with symptoms that are less commonly recognized. This variation can make diagnosis challenging, as its manifestations often extend beyond the gastrointestinal tract.
What Makes Celiac Disease Atypical
Atypical celiac disease differs from the classic presentation, which involves prominent gastrointestinal symptoms like chronic diarrhea, abdominal pain, bloating, and weight loss. In contrast, atypical celiac disease manifests with subtle or non-digestive symptoms, and in some cases, individuals may experience no noticeable symptoms at all, a condition referred to as silent celiac disease. Extraintestinal manifestations are now frequently observed.
The mechanism involves an immune reaction to gluten in genetically predisposed individuals (those carrying HLA-DQ2 and HLA-DQ8 genes), leading to damage in the small intestine, even without overt digestive complaints. The absence of typical gastrointestinal distress often leads to diagnostic delays, with patients sometimes being misdiagnosed with other conditions like irritable bowel syndrome (IBS).
Common Atypical Symptoms
Atypical celiac disease can affect various body systems, leading to symptoms beyond the digestive tract. Dermatological manifestations include dermatitis herpetiformis, an intensely itchy, blistering rash often found on the elbows, knees, scalp, and buttocks. This skin condition is considered the “celiac disease of the skin”.
Neurological symptoms can encompass peripheral neuropathy, characterized by tingling or numbness in the limbs, and can also include chronic headaches or migraines, as well as “brain fog” or mental confusion. Some individuals may experience cerebellar ataxia, affecting coordination and balance. Hematological issues frequently involve iron-deficiency anemia that may not respond well to iron supplementation, as the damaged small intestine struggles to absorb nutrients.
Musculoskeletal complaints are also common, with joint pain, osteoporosis, or osteopenia (reduced bone density) being reported. These bone issues can increase the risk of fractures. Reproductive problems, such as unexplained infertility and recurrent miscarriages, have been linked to atypical celiac disease.
Dental abnormalities can include enamel defects, appearing as white, yellow, or brown spots on teeth, particularly in permanent teeth that develop before age seven. Recurrent aphthous ulcers, or canker sores, in the mouth are another possible sign. Other non-specific symptoms include persistent fatigue, unexplained weight loss or, sometimes, difficulty losing weight, and elevated liver enzymes. Psychological symptoms such as depression and anxiety have also been associated with the condition.
Diagnosing Atypical Celiac Disease
Diagnosing atypical celiac disease can be more intricate than diagnosing the classic form, due to its varied and subtle symptoms. Diagnosis typically begins with blood tests to detect specific antibodies produced in response to gluten. The primary screening test is for tissue transglutaminase IgA (tTG-IgA) antibodies. For accurate results, individuals must continue consuming gluten before these tests, as a gluten-free diet can lead to false negative results.
If blood tests suggest the presence of celiac disease, an endoscopy with a small intestinal biopsy is considered the gold standard for confirmation. During this procedure, a thin, flexible tube with a camera examines the small intestine and collects tissue samples. These samples are then examined under a microscope for characteristic damage to the villi, the small, finger-like projections responsible for nutrient absorption. The pathologist will assess for villous atrophy.
Genetic testing for HLA-DQ2 and HLA-DQ8 genes can also be performed. While their presence is necessary for developing celiac disease, these genes are common in the general population and do not confirm a diagnosis. However, the absence of both HLA-DQ2 and HLA-DQ8 can effectively rule out celiac disease with high certainty. Challenges in diagnosis include the possibility of negative serology despite the condition, or ambiguous biopsy results.
Living with Atypical Celiac Disease
Once atypical celiac disease is diagnosed, the only effective treatment is a lifelong gluten-free diet. This involves completely avoiding all foods containing wheat, barley, and rye, including common items like bread, pasta, and many processed foods. Even small amounts of gluten, such as a single spoonful of pasta, can trigger an immune response and cause intestinal damage, even if overt symptoms are not felt.
Awareness of cross-contamination is important, as gluten-free foods can become contaminated if they come into contact with gluten-containing ingredients or surfaces. This can happen in shared kitchens, with shared utensils, or even in manufacturing processes. Patients are advised to use separate preparation areas, cutting boards, and toasters to prevent accidental gluten exposure.
With consistent adherence to the gluten-free diet, most individuals experience significant improvement in their symptoms and healing of the small intestine. For children, intestinal healing typically occurs within 3 to 6 months, while adults may require several years for complete recovery. Regular follow-up with a healthcare provider and a registered dietitian specializing in celiac disease is highly recommended to ensure proper dietary adherence, address any nutritional deficiencies, and monitor for potential long-term complications.