Adult celiac disease: delayed onset or delayed diagnosis?

Our understanding of celiac disease (CD) has increased enormously over the years and many facts have been elucidated [1,2] but still the explanation for the variations noted in age at onset of disease and disease manifestations remain unsettled. The marked variation between the two types of CD (childhood vs. adult CD) is intriguing as both types share a common genetic background and environmental trigger i.e. dietary gluten. We aimed to evaluate whether symptoms in patients with adult CD actually begin at adult age (delayed onset of disease) or symptoms actually begin during childhood but are missed or get ignored in the early years of life (delayed diagnosis).

The study was based on ‘recall’ of symptoms during childhood i.e. <14 years of age. The ascertainment of symptoms suggestive of CD was assessed by a questionnaire based survey conducted between January 2009 to December 2012. A comprehensive questionnaire aimed at identifying symptoms suggestive of CD was developed and it included 3 domains, intestinal symptoms (chronic diarrhea, failure to thrive, malnutrition/malabsorbtion), extraintestinal features (anemia, short stature, thyroid disease, failure to gain weight/height, unexplained chronic liver disease, epilepsy, insulin dependent diabetes mellitus) and treatment history (medical attention sought for intestinal and/or extraintestinal symptoms mentioned above). In addition, age at menarche was enquired in female patients.

Of a total of 445 patients with adult CD who reported in the outpatient department, 370 (83.1%) consented for participation. The mean age of the patients with adult CD was 33.36±10.82 years; 143 being males. The clinical presentation in these patients has been intestinal in 261 (70.5%) and extraintestinal in 109 (29.5%). Of these 370 patients who returned the questionnaire, 134 (36.2%; 42 males) admitted having experienced symptoms suggestive of CD during childhood. Of these 134 patients only 54 (40.3%) of them visited doctors seeking medical attention for these symptoms. Recall symptoms reported are shown in Table 1. Of a total of 227 females, 198 (87.2%) were able to recall their age at menarche, the average age being 14.9±1.8 years. Of those 139 females who had no recall symptoms during childhood, 120 (86.3%) recalled their age at menarche, the mean age being 14.45±2.7 years.

Table 1

Recall symptoms/disease reported by adult celiac disease during childhood

Our study reveals that almost one third of patients with adult CD had symptoms suggestive of CD even during their childhood. Intestinal symptoms such as diarrhea and painful abdomen were more frequently recalled than extraintestinal symptoms. However, only 40% of patients reporting recall symptoms actually sort medical advice. Reasons for not seeking medical help in childhood could be milder severity of symptoms, intermittent nature of symptoms or the subtlety of extraintestinal manifestations.

The mean age at menarche in northern Indian females is reported as 13.2±1.09 years [3]. Age at menarche was delayed in patients with CD irrespective of presence or absence of recall symptoms (14.9±1.8 vs. 13.2±1.09; 14.45±2.7 vs. 13.2±1.09, P <0.0001). Delayed menarche points towards undiagnosed CD. Although the symptoms included in the questionnaire are non-specific and non-diagnostic for onset of CD in childhood, however these could be indicative of possible onset of the disease from childhood. In conclusion, adult CD may actually be a case of delayed diagnosis rather than delayed onset of disease, at least in some patients.