Background and aim Over the last decades, the diagnosis of cæliac disease (CD) changed significantly both in terms of clinical picture and laboratory diagnosis. The authors present the perspective of a Pædiatric Gastroenterology Department over a 32 years period.
Method We performed a retrospective study including patients diagnosed with CD from Jan.1985 until Dec.2016 in „Gr. Alexandrescu’ Children’s Hospital. Three groups were formed, according to the diagnostic procedures used over time: first-intestinal biopsy, second-serology and biopsy, third-serology and biopsy or high values of anti-transglutaminase antibodies, a second positive serologic marker and HLA typing. Clinical characteristics at presentation were analysed.
Results 231 children were included. First group contained 20 patients (mean age at diagnosis 5.9 years) diagnosed with classic forms of CD from 1985 until 1995 (1.8/year). Gastrointestinal (GI) symptoms were described in all, particularly chronic diarrhoea (90%). Four presented with cæliac crisis (20%). Second group included 152 patients diagnosed from 1996 until 2006 (once serologic screening was available the number of patients/year increased to 13.8). Mean age at diagnosis was 4.4 years. 86.8% presented with GI symptoms, but only 51.9% had chronic diarrhoea. Cæliac crisis was rarely seen (0.6%). Instead of classic forms with malabsorbtion, atypical presentations with non-GI symptoms were reported in 13.1%. Third group consisted of 59 patients diagnosed from 2007 until 2016 (at a mean age of 4). The number of patients presenting to a Gastroenterology Department decreased considerably (5.9/year). Half of the patients that reached our department presented with mild GI symptoms other than chronic diarrhoea: constipation, abdominal pain (50.9%).
Conclusion Three decades ago the Pædiatric Gastroenterologist was diagnosing classic forms of CD with chronic diarrhoea in small numbers of children. Once cæliac serology was available, the diagnosis shifted to a large number of patients with a broad clinical spectrum. Now CD diagnosis is again set progressively less frequent in the Gastroenterology Department as mild GI symptoms suggesting rather functional than organic disease are often the form of presentation. As long as the CD awareness is high, the diagnosis might be successfully established in the primary care setting, in many cases without biopsy, according to the ESPGHAN guidelines.
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