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

J Dig Dis. 2022 Aug;23(8-9):506-515. doi: 10.1111/1751-2980.13133. Epub 2022 Nov 13.

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.

Keywords: HLA-DQ2 antigen; HLA-DQ8 antigen; biochemical parameters; celiac disease; clinical manifestations.

MeSH terms

  • Adult
  • Celiac Disease* / complications
  • Celiac Disease* / diagnosis
  • Celiac Disease* / genetics
  • Cross-Sectional Studies
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • HLA-DQ Antigens / genetics
  • Haplotypes
  • Humans
  • Male
  • Middle Aged
  • Retrospective Studies

Substances

  • HLA-DQ Antigens