Disabling osteomalacia and myopathy as the only presenting features of celiac disease: a case report

Celiac disease is an autoimmune inflammatory disease of the small intestine precipitated by the ingestion of gluten, a component of wheat protein, in genetically susceptible persons. Classically, the disease manifests with diarrhea, weight loss and anemia. There are very few reports of osteomalacia as the presenting symptom, and even fewer of osteomalacia as the only symptom of celiac disease at presentation.

In this case report we describe a 40 year-old patient who presented with 6 months history of progressively worsening and disabling osteomalacia as the only presentation of a celiac disease. With adherence to a gluten-free diet and calcium-vitamin D supplementation, the patient's condition improved remarkably within three months and she was able to walk pain free.

Celiac disease frequently is under diagnosed or misdiagnosed which results in unnecessary morbidity such as disabling osteomalacia. Therefore, early diagnosis of celiac disease is important because the symptoms completely resolve with adequate treatment.