Abstract
Motivators, barriers and incidence of screening for celiac disease in first degree relatives at 14 years after initial screening
Highlights
Celiac disease (CD) is a genetically mediated autoimmune disease [1]
In the light of increased incidence of celiac disease in first-degree relatives, as well as the increased risk of developing comorbidities if celiac disease is left untreated, the results of this study indicate the need for increased awareness of testing recommendations among first-degree relatives
Undiagnosed celiac disease (CD) is associated with increased risk of Type 1 diabetes, osteoporosis, thyroid disease, additional autoimmune diseases, and potentially gastrointestinal cancers [5,6]
Summary
Celiac disease (CD) is a genetically mediated autoimmune disease [1]. Ingestion of gluten results in damage to the small intestine [1,2]. The classic gastrointestinal symptoms of CD including diarrhea, weight loss, and abdominal discomfort, are less frequently seen in adults [3]. Lo’s (2003) study reported usual modes of adult presentation of celiac disease as symptoms (62%), anemia (15%), bone loss (15%) and screening of first-degree relatives (13%). Adults often present with atypical or extra-intestinal symptoms of migraines, joint pain, fatigue, and infertility. One study reviewing celiac disease diagnosis reported an increased presentation of nonclassical symptoms from 14.8% prior to 1985 to 51.6% in 2010 [4]. Undiagnosed CD is associated with increased risk of Type 1 diabetes, osteoporosis, thyroid disease, additional autoimmune diseases, and potentially gastrointestinal cancers [5,6]. Especially in individuals who have non-classical presentation or are asymptomatic, could lead to additional health risks. We sought to determine incidence of follow-up testing, as well as facilitators and barriers, in first-degree relatives who participated in a Family Screening Day 2005
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