The Many Faces of Celiac Disease

Celiac disease (CD) doesn’t always present with diarrhea. In fact, its presentation is impressively varied (and thus is very likely underdiagnosed):

  • Young children (<3yo) present more often with “classic” symptoms: diarrhea and failure to thrive
  • Older children and adolescents are more likely to present with atypical GI complaints: pain, vomiting, or even constipation. In addition, extraintestinal symptoms such as arthritis, neurologic symptoms, and anemia are not infrequent, as are asymptomatic cases
  • In adults, diarrhea and weight loss are uncommon. An IBS-like presentation may be more common: constipation, alternating bowel movements, and/or dyspepsia-like symptoms, such as nausea and sometimes vomiting. Other presentations include iron deficiency anemia, osteoporosis, dermatitis herpetiformis, and chronic fatigue, as well as a variety of neuropsychiatric symptoms (e.g., headache, peripheral neuropathy, ataxia, epilepsy, depression, dysthymia, and anxiety)

A 2014 Italian study found that symptoms at presentation varied significantly among 770 patients diagnosed with CD (of whom 21% were asymptomatic) over a 15-year period:  

Source: Volta et al. BMC Gastroenterol. 2014

Last, many conditions associated with CD occur with >2x the prevalence of the general population: 

  • Chronic iron deficiency and anemia
  • Metabolic bone disease and premature osteoporosis
  • Unexplained weight loss
  • Abnormal elevated liver enzymes
  • Peripheral neuropathy
  • Oral aphthous ulcers
  • Growth failure
  • Discolored teeth or developmentally synchronous enamel loss
  • Irritable bowel syndrome
  • Down’s syndrome 
  • Turner’s syndrome
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