Endocrinol Diabetes Nutr (Engl Ed). 2021 Mar;68(3):153-158. doi: 10.1016/j.endien.2020.03.011.Epub 2021 Jun 11.

M Belén Roldán Martín ¹, Corina Márquez Romero ², Enrique Guerra Vilches ², Juan Ruiz Usabiaga ³, Raquel Barrio Castellanos ⁴, María Martín Frías ⁴, David Plaza Oliver ², Cristina Camarero Salces ⁵

Author information

• ¹Unidad de Endocrinología y Diabetes, Servicio de Pediatría, Hospital Universitario Ramón y Cajal, Departamento de Medicina y Especialidades Médicas, Facultad de Medicina, Universidad de Alcalá, IRYCIS, Madrid, Spain. Electronic address: mbelen.roldan@salud.madrid.org.
• ²Servicio de Pediatría, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain.
• ³Servicio de Atención al Paciente, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain.
• ⁴Unidad de Endocrinología y Diabetes, Servicio de Pediatría, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain.
• ⁵Unidad de Gastroenterología, Servicio de Pediatría, Hospital Universitario Ramón y Cajal, Departamento de Medicina y Especialidades Médicas, Facultad de Medicina, Universidad de Alcalá, IRYCIS, Madrid, Spain.

Abstract

Introduction: Children and adolescents with type 1 diabetes mellitus (T1DM) are at high risk for the development of celiac disease (CD) because of the common genetic characteristics of both conditions. The study objectives were to investigate the frequency of the human leukocyte antigen system (HLA) for CD in pediatric T1DM patients and to determine whether HLA testing is suitable for CD screening in that population and is cost-effective as compared to serological screening for CD.

Patients and methods: A retrospective, descriptive study was conducted in 296 patients (148 girls; 148 boys) with T1DM aged <18 years who attended a Madrid hospital. Data on the frequency of genotypes DQ2/DQ8 in a subgroup of 92 patients and the additional cost of performing HLA typing for screening CD were collected. Only when the risk HLA haplotype (DQ2/DQ8) is negative no further serological screening for CD is required.

Results: Twenty-three patients with T1DM (7.77%) also had CD. Alleles DQ2 or DQ8 were found in 91.3% of patients in whom the HLA haplotype was studied. Thus, only 8.7% with a negative haplotype would have benefited from HLA testing. The additional cost of HLA typing was € 105.2 for each patient with positive DQ2 or DQ8 in our population.

Conclusions: HLA typing is not a cost-effective screening method for CD in T1DM because of the frequent association of T1DM with risk genotypes for CD.