Clinical and Genetic Characteristics of Autoimmune Polyglandular Syndrome Type 3 Variant in the Japanese Population

Abstract

In conclusion, we found notable differences in the clinical and genetic characteristics of APS3v patients and T1D/AITD(-) patients in the Japanese population, and the differences in the clinical characteristics between the two groups may reflect distinct genetic backgrounds including the HLA DRB1-DQB1 haplotypes and CTLA4 gene polymorphisms.

Clinical, Endocrinological and Immunological Characteristics of Japanese Patients With Autoimmune Polyglandular Syndrome Type 3a

“…Both anti-GAD ab and anti-IA2 ab were negative in cases 24, 25 and 26 in Table 2; however, they were insulin-dependent and showed the positivity for anti-TPO ab and anti-TG ab, and they were included in patients with APS3a. Our previous reports [4,[7][8][9] and present study revealed a remarkable female predominance in APS3a, which agreed with previous reports [10,11]. Among patients with autoimmune diabetes, SPIDDM was the most common type of diabetes, and the positive rate of anti-GAD ab was higher than that of anti-IA2 ab.…”

“…Only one article reported clinical and genetic characteristics of adult APS3, and we found one more article which reported the incidence of APS3 in children with type 1 diabetes [10,11].…”

Polyglandular autoimmune syndromes

“…With a relative prevalence of approximately 40%, PAS type III is the most frequent subtype and encompasses type 1 diabetes (T1D) and an autoimmune thyroid disease, AITD [1]. T1D may occur with an autoimmune-induced hypothyroidism (generally caused by chronic lymphocytic Hashimoto's thyroiditis, HT) or hyperthyroidism (caused by Graves' disease, GD) differing in genetic, serologic, and clinical presentation [17]. Additional (non-) glandular autoimmune diseases are common in PAS III.…”

Simultaneous Occurrence of Type 1 Diabetes Mellitus and Graves' Disease: A Report of Two Cases and a Review of the Literature

“…Horie et al (4) reported the chronological order of T1D and GD development in 30 Japanese patients with APS3v. Ten percent developed T1D and GD simultaneously, 60% developed GD before the onset of T1D and 30% developed GD after the onset of T1D.…”

“…With regard to the clinical characteristics of APS3v (including both patients with T1D plus GD and those with T1D plus Hashimoto's thyroiditis), marked female predominance, a slowly progressive clinical course with older T1D onset age, a higher prevalence of GAD antibodies and a higher level of GAD antibodies were observed in APS3v patients compared to T1D patients without AITD (4,8). The prevalence of IA-2 antibodies was significantly higher in acute-onset T1D than in slowly progressive T1D among APS3v patients (4).…”