Clinical presentation, biochemical profile, and HLA haplotype frequency of celiac disease among adults in Northwest China

Abstract

Objective To evaluate the clinical characteristics, biochemical parameters and the distribution of HLA‐DQ genotypes among adult patients with celiac disease (CD) in Northwest China. Methods This cross‐sectional study retrospectively collected clinical, biochemical, and HLA‐DQ genotype of patients with CD from a tertiary hospital in Xinjiang Uygur Autonomous Region, China between March 2016 and December 2021. Small intestinal biopsy and serum‐specific antibodies were used to diagnose CD. Results Of the 102 CD patients, 63.7% were women (female: male = 1.76:1), and the mean age was 47.3 ± 14.7 years at diagnosis. Common gastrointestinal symptoms included abdominal pain (50.0%), diarrhea (39.2%), and abdominal distension (24.5%). While common extraintestinal manifestations were anemia (48.0%), osteopenia or osteoporosis (36.3%), and fatigue (35.3%). Approximately 34.3% of patients with CD had comorbidities, with the most common being thyroid diseases (18.6%). Biochemical profiles showed lower hemoglobin, higher platelet count, and 25‐hydroxyvitamin D (25[OH]D) deficiency. HLA‐DQ2/DQ8 was detected among all 53 patients who underwent genotype testing; the frequency of the HLA‐DQ2.5, DQ2.2, and DQ8 haplotypes was 71.7%, 24.5%, and 3.8%, respectively. Conclusions CD was more common among women. Clinical manifestations include primarily gastrointestinal symptoms, but extraintestinal manifestations were not uncommon. Lower hemoglobin level, higher platelet count, and 25[OH]D deficiency are the main biochemical manifestations. The HLA‐DQ2.5 and DQ2.2 haplotypes are the most common genotypes in CD.