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The purpose of this expert review is to summarize the diagnosis and management of refractory celiac disease. The evaluation of patients with celiac disease who have persistent or recurrent symptoms, differential diagnosis, nutritional support, possible therapeutic options, and monitoring for complications of this condition are included.

For the majority of patients with celiac disease, a lifelong gluten-free diet leads to symptom improvement, intestinal healing and avoidance of long-term complications. However, despite a GFD, a subset of patients may experience persistent villous atrophy.

Celiac disease can impact emotional wellbeing, cognitive and behavioral function and quality of life, both prior to and following diagnosis. A holistic treatment plan helps patients manage the many ways that celiac disease can negatively impact diverse aspects of health.

There are over 200 signs and symptoms of celiac disease. These include both gastrointestinal and systemic presentations and vary highly from patient to patient, making diagnosis challenging. It is important to understand the various presentations of celiac disease to provide the best care for patients and appropriately treat related symptoms.

Celiac disease is a complex immune-mediated disease, triggered by the consumption of gluten in those with a genetic predisposition. Recent studies have highlighted the potential role of gut microbiota in the pathogenesis of celiac disease.

While the worldwide prevalence of celiac disease is 1%, its prevalence rises significantly among patients with concurrent type 1 diabetes mellitus (T1DM). Both celiac disease and T1DM are autoimmune disorders and require careful and lifelong management to avoid long-term health consequences.

People with celiac disease often experience a long journey before being diagnosed with celiac disease. Delays in diagnosis prevent treatment of the symptoms and leads to significant quality of life disruption. A recent survey of people with celiac disease and their relatives examined the experiences that patients had on their way to diagnosis and provided insights as to how their situation could have been improved.

While strides have been made in recent years, accurate and timely diagnosis of celiac disease remains a challenge. Diagnosis is a multi-step process that includes clinical history, serology, histology, and symptom improvement and antibody response following transition to a gluten-free diet.

A new study examines the long-term effects celiac disease has on mothers’ children and highlights their increased infectious morbidity compared to children of mothers without celiac disease.