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Diet, gluten-free

Diagnosis of Celiac Disease

Author/s: 
MD, Marisa G. Stahl, MSCS, Claire Jansson-Knodel

Celiac disease is an autoimmune disease that can occur through the lifespan and is characterized by immune-mediated enteropathy in response to dietary gluten.1 Celiac disease affects at least 1% of the global population. Important risk factors are a first-degree relative with celiac disease, carrying specific genetic variants, presence of other autoimmune conditions (eg, type 1 diabetes, Hashimoto thyroiditis), and certain chromosomal disorders (eg, Down syndrome, Turner syndrome, Williams syndrome).

Typical gastrointestinal symptoms include diarrhea (38%), abdominal discomfort (34%), and weight loss from malabsorption (16%).2 Subjective improvement in symptoms with a gluten-free diet has a poor positive predictive value (PPV) for celiac disease (36%), making objective testing essential. Diagnostic guidelines (Table) recommend performing serologic testing in individuals with symptoms and/or signs suggestive of celiac disease while they are consuming a diet containing gluten, which is present in wheat, barley, and rye. Gluten reduction or removal from the diet impairs the diagnostic accuracy of screening.3-7 For patients already following a gluten-free diet, gluten consumption must be resumed prior to screening. However, there is no consensus for the dose or duration of gluten consumption that should be maintained through second confirmatory tests. Of the 2 most recent guidelines, one does not specify a dose or duration4 and one suggests at least 3 g per day for at least 6 weeks.3

Keywords 
celiac disease diagnosis health education serologic diagnosis

What Is Celiac Disease?

Author/s: 
Kristin L. Walter

Celiac disease is a chronic autoimmune disease caused by consumption of gluten in people with specific genetic markers. Celiac disease affects about 1% of people worldwide and people can start having symptoms at any age. Individuals at increased risk include those with a first-degree relative who has celiac disease and those with autoimmune diseases (eg, type 1 diabetes or Hashimoto thyroiditis) and certain chromosomal conditions (Down syndrome, Turner syndrome, or Williams syndrome).

Keywords 
celiac disease patient education health education

Celiac Disease

Author/s: 
Joseph A. Murray, Steffen Husby

Celiac disease, a common autoimmune condition affecting approximately 1% of the population, can develop with exposure to gluten at any age. Diagnosis involves serologic testing, especially for IgA antibodies against tissue transglutaminase, and may include tests to confirm the presence of endomysial antibodies or even duodenal biopsies, although the latter are becoming less necessary. The presence of genes encoding HLA-DQ2 or HLA-DQ8 is a prerequisite for the disease. A gluten-free diet is the mainstay of treatment, but some adults have nonresponsive celiac disease, which warrants closer monitoring because of an increased risk of malignant conditions. Celiac disease also frequently co-occurs with other autoimmune disorders, such as type 1 diabetes mellitus and autoimmune thyroid disease.

Keywords 
Immunoglobulin A HLA-DQ8 antigen celiac disease

Diagnosis and management of celiac disease

Author/s: 
Jedid-Jah Blom, Dominica Gidrewicz, Justine Turner, Donald R. Duerksen, M. Ines Pinto-Sánchez

Celiac disease is frequently undiagnosed, in part because of its highly variable clinical presentation.

Celiac disease can present with classic gastrointestinal symptoms (e.g., diarrhea, abdominal pain, bloating, weight loss), atypical or extraintestinal manifestations (e.g., anemia, osteoporosis, neurologic symptoms, infertility, fatigue) or asymptomatic presentations detected from screening.

The first-line serologic screening test measures tissue transglutaminase immunoglobulin A and should be conducted while the patient is consuming gluten.

Complications of celiac disease include nutritional deficiencies, osteoporosis, increased risk of viral infections and pneumonia, and, rarely, risk of malignancy.

Adherence to a lifelong, strict gluten-free diet with regular monitoring of disease activity and nutritional status is key for symptom management and to prevent complications.

Keywords 
celiac disease diet Gluten-Free

Itchy vesicles

Author/s: 
Colom, M., Stulberg, D.

A 58-year-old man presented to the family medicine skin clinic with a 4-month history of intensely pruritic vesicles on his forehead, back, elbows, dorsum of his hands, and knees. The patient also reported lesions inside his mouth; however, they were not visible at the time of the office visit. He had a history of psoriasis and Graves disease and had recently been given a biopsy-confirmed diagnosis of celiac disease.

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