Non-gastrointestinal presentations of celiac disease

From a recent paper in the American Journal of Medicine:

Abstract

Purpose

The purpose of our study is to investigate the delay in diagnosis of patients with biopsy-proven celiac disease in those who present with gastrointestinal complaints vs nongastrointestinal complaints at our tertiary care center. Celiac disease is an autoimmune disorder that affects approximately 1% of the population worldwide. Celiac disease can have variable clinical presentations; it can be characterized by predominately gastrointestinal symptoms, or it may present without any gastrointestinal symptoms.

Methods

We retrospectively reviewed the charts of 687 adult patients who carried the diagnosis of celiac disease. Patients included had biopsy-proven celiac disease and were categorized based on presence or absence of gastrointestinal symptoms prior to their diagnosis.

Results

There were 101 patients with biopsy-proven celiac disease that met inclusion criteria. Fifty-two patients presented with gastrointestinal symptoms and 49 had nongastrointestinal complaints. Results from Mann-Whitney statistical analysis showed a median delay in diagnosis of 2.3 months for the gastrointestinal symptoms group and 42 months for the nongastrointestinal group (P less than .001); 43.2% of patients with nongastrointestinal symptoms had abnormal thyroid-stimulating hormone, as opposed to 15.5% in the gastrointestinal symptom group (P = .004). Of patients with nongastrointestinal symptoms, 69.4% had anemia, compared with 11.5% of the gastrointestinal symptom group (P less than .001). The majority of patients in the nongastrointestinal symptom group, 68%, were noted to have abnormal bone density scans, compared with 41% in the gastrointestinal symptom group. No sex differences were noted on chi-squared analysis between the 2 groups (P = .997).

Conclusions

Although there is growing awareness of celiac disease, the delay in diagnosis for patients without gastrointestinal symptoms remains prolonged, with an average delay of 3.5 years.

Clinical Significance

There is a mean delay in the diagnosis of celiac disease of 3.5 years in patients who present with nongastrointestinal symptoms.

Specifically, patients with thyroid abnormalities, anemia, or bone mineral density loss should be screened for celiac disease.

Celiac disease is an autoimmune disorder that affects approximately 1% of the population worldwide.1 As many as 6 of 7 cases of celiac disease remain undiagnosed.2 This discrepancy falls in line with the widely accepted “celiac iceberg” concept and may be due to the fact that patients have variable presentations of celiac disease. Manifestations of celiac disease range from typical gastrointestinal complaints characterized by malabsorption and diarrhea, to more silent forms in patients without overt gastrointestinal complaints. Nongastrointestinal presentations may include anemia, thyroid dysfunction, osteoporosis, liver function test abnormalities, and skin manifestations such as dermatitis herpetiformis. The variable presentations create a clinical challenge to physicians in reaching an early diagnosis. As a result, delay in diagnosis is not uncommon and does not go without consequence. Undiagnosed celiac disease can lead to osteoporotic fractures, infertility, unnecessary surgical procedures including bowel resection, and malignancy.1 As the majority of cases of celiac disease can be treated with a strict gluten-free diet alone, adherence to this diet can reverse the risk for adverse clinical outcomes.