Autoimmune polyglandular syndrome type 2 and autoimmune hepatitis with thymoma-associated myasthenia gravis: case report

Abstract

Background: Autoimmune polyglandular syndrome type 2 (APS-2) is a rare and complex clinical entity, and little is known about its etiology and progression.

Case presentation: A 52-year-old woman with autoimmune hepatitis (AIH) and bronchial asthma was diagnosed with APS-2; autoimmune Addison's disease (AD), and Hashimoto's thyroiditis (HT), and she underwent prednisolone (PSL) treatment. Five months later, she presented ptosis and was diagnosed with thymoma-associated myasthenia gravis (MG). Thymectomy and PSL treatment with immuno-suppressants appeared to ameliorate MG, AD, AIH, HT, and bronchial asthma. HLA typing analysis revealed that the patient had susceptible HLA alleles to MG, AIH, and HT in a Japanese population.

Conclusions: This case suggests common endocrinological and autoimmune aspects of APS-2 and AIH with thymoma-associated MG, which are considered to be extremely rare complications.

Keywords: Autoimmune Addison’s disease; Autoimmune hepatitis; Autoimmune polyglandular syndrome type 2 (APS-2); Bronchial asthma; Hashimoto’s thyroiditis; Thymoma-associated myasthenia gravis.

Fig. 1

a On an abdominal CT, atrophy of the bilateral adrenal glands was seen (arrows). b A solid mass was seen in the anterior mediastinum (arrow) on a chest CT, suspected to be thymoma (34 × 34 mm in size)

Fig. 2

Clinical course after diagnosis of APS-2. Five months after this diagnosis, she was diagnosed with thymoma-associated MG. Anti-AchR-Ab titer gradually decreased. * Immuno-suppressants: Under treatment with azathioprine (50 mg/day), total thymectomy was conducted. After thymectomy, tacrolimus (3 mg/day) was started instead of azathioprine, and 25 months later, it was changed to cyclosporine (50 mg/day). Ten months later, the treatment was changed to ambenonium (5 mg/day), and ceased after 10 months (at 52 months)