ESPE Abstracts (2014) 82 P-D-2-3-488

High Prevalence of Diabetes Mellitus Among Patients with APS Type 1 in Russia

Elizaveta Orlovaa, Leila Sozaevaa, Lubov Zilbermana, Galina Svetlovaa, Maria Karevaa, Olga Ivanovab & Valentina Peterkovaa


aInstitute of Paediatric Endocrinology, Endocrinological Research Centre, Moscow, Russia; bLaboratory of Genetics and Immunology, Endocrinological Research Center, Moscow, Russia


Background: Diabetes mellitus (DM) is one of ‘minor’ components of autoimmune polyglandular syndrome type 1 (APS1). The prevalence of DM in APS1 varies from 2.5 to 18% in different populations.

Objective and hypotheses: To study disease phenotype and genotype of APS1 patients with DM.

Method: All patients diagnosed with DM were selected from the Russian registry of APS1 patients. Clinical data, AIRE-gene mutations and immunological studies were retrospectively assessed in this group. APS1 was confirmed by clinical criteria and/or AIRE mutations in all 87 patients.

Results: Ten of 87 patients with APS1 were found to have DM (nine patients) or glucose intolerance (one patient). Islet autoantibodies were investigated in eight of ten patients (100% were positive for IA2, 60% were positive for GAD65, 30% were positive for IAA and none were positive for ICA). Frequent R257X AIRE mutation was found in 14 of 20 alleles (70%). The mean age of DM manifestation was 13.0 (1.5–20.1). The mean level of HbA1c was 8.0% (5.4–9.6). Seven patients require insulin therapy with average dose 0.7 U/kg per day (0.5–1.3). Three patients remain insulin-independent and have normal HbA1c (5.1%, 5.3%, 5.4%) during 12, 22 and 30 months of follow-up, respectively. Very slow decrease of insulin secretion has been observed (Table 1).

Table 1. Oral glucose tolerance test in APS1 patient with DM
Time0 min120 min
Months after diagnosis with DM030030
Insulin (mU/ml)7.443.335.015.6
Glucose (mmol/l)5.95.614.916.5

Conclusion: Prevalence of DM in APS1 in Russia is very high (11.4%) compared to other populations except Finnish. One-third (30%) of patients with APS1 show slowly progressive insulin deficiency. Autoantibodies to IA2 were positive in all investigated patients which corresponds to other studies.

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