ESPE2014 Poster Category 2 Endocrine Oncology (13 abstracts)
High Prevalence of Diabetes Mellitus Among Patients with APS Type 1 in Russia
Elizaveta Orlova a , Leila Sozaeva a , Lubov Zilberman a , Galina Svetlova a , Maria Kareva a , Olga Ivanova b & Valentina Peterkova a
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).
| Time | 0 min | 120 min | ||
| Months after diagnosis with DM | 0 | 30 | 0 | 30 |
| Insulin (mU/ml) | 7.44 | 3.3 | 35.0 | 15.6 |
| Glucose (mmol/l) | 5.9 | 5.6 | 14.9 | 16.5 |
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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