Until the advent of widespread serological testing the highest reported prevalence of celiac disease in the world was in western Ireland where 1 in 300 individuals had celiac disease with prevalence as low as 1:2,000 in other parts of Europe. It was estimated that 1 in 2,000 Canadians had celiac disease, while one study conducted in Olmstead County, Minnesota, reported a prevalence of 21.8 per 100,000 [2]. It is still not clear why the reported frequency of celiac disease was so much less in the USA than in other parts of the world inhabited by individuals of similar ethnic origin. The use of serological methods to screen for celiac disease indicates that celiac disease is much more common than previously thought, with prevalence as high as 1:50 to 1:300 in the western world. A recent prevalence study conducted in the United States by Fasano and colleagues indicated a prevalence of 1:133 in asymptomatic subjects, but higher in symptomatic subjects or those with disorders associated with celiac disease (1:56) or first-degree relatives of celiac patients (1:22) [3]. The range of the reported prevalence is wide, reflecting varying populations and modalities of detection. Recognizing these issues it is thought that the prevalence of celiac disease in the western world including the United States is approximately 1:100 (1%). The true prevalence of celiac disease remains to be established by large multicenter studies in which serology in conjunction with small bowel histology is consistently evaluated.

Table 6.1

Prevalence of Celiac Disease in Various Settings

1st degree relatives of patients with celiac disease (10-15%)

2nd degree relatives of patients with celiac disease (2.6-5.5%)

Autoimmune thyroid disease (3%)

Symptomatic iron deficiency anemia (10-15%)

Asymptomatic iron deficiency anemia (2-9%)

Microscopic colitis (15-27%)

Osteoporosis (1-3%)

Elevated transaminases (1.5-9%)

Autoimmune hepatitis (3-6%)

Primary biliary cirrhosis (0-6%)

Chronic fatigue syndrome (2%)

Unexplained infertility (2-4%)

Celiac disease occurs with increased frequency in various settings as summarized in Table 6.1. These include relatives of celiac patients and those with various autoimmune disorders including type I diabetes and autoimmune thyroid disorders. These individuals possess the HLA genes (reviewed below) that can predispose them to celiac disease. Other groups in which celiac disease is more commonly found are those with conditions that may result from celiac disease including iron deficiency and osteopenic bone disease. In other conditions such as Down's syndrome the mechanism of the association is less clear.

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