ESPE Abstracts (2015) 84 P-1-151

A Case of Autoimmune Polyglandular Syndrome Type I Presenting as Progressive Generalised Lipodystrophy in a 15-month-old Child

Ekaterina Sorkinaa, Elena Frolovab, Dina Rusinovab, Svetlana Polyakovab, Evgeny Vasilyevc, Vasily Petrovc & Anatoly Tiulpakovc

aEndocrinology Department, Sechenov Moscow State Medical University, Moscow, Russia; bScientific Centre of Children Health, Moscow, Russia; cEndocrinology Research Center, Moscow, Russia

Background: Autoimmune polyglandular syndrome type 1 (APS1) is a monogenic autoimmune disease caused by defects in autoimmune regulator gene (AIRE). The classic clinical triad is composed of Addison disease, hypoparathyroidism, and chronic mucocutaneous candidiasis, however other endocrine and non-endocrine features of APS1 may occur.

Objective: To describe an unusual clinical manifestation of APS1.

Methods: Congenital lipodystrophy candidate genes (ZMPSTE24, LMNA, BSCL2, PLIN1, PTRF, LMNB2, POLD1, AKT2, CIDEC, PIK3CA, PPARG, PSMB8, CAV1, PPP1R3A, AGPAT2) were sequenced using a custom Ion Ampliseq panel and PGM semiconductor sequencer (Ion Torrent). p.R257X mutation in AIRE gene was analysed by real-time PCR.

Results: A boy presented at the age of 15 months with progressive weight loss and subcutaneous fat disappearance, most evident on the limbs. Sequencing of congenital lipodystrophy candidate genes showed no mutations. During his fourth year of life autoimmune hepatitis (with rapid progression to hepatic cirrhosis Child-Pugh class C) and oral candidiasis were diagnosed consequently. Immunosuppressive therapy with prednisone normalised liver function, and the dose was reduced to 10 mg per day. At the age of 4.5 years the patient presented with symptoms of adrenal crisis, his renin was >500 mcIU/ml, ACTH > 300 pg/ml. APS1 was suspected, which was confirmed by detecting a homozygous p.R257X mutation in AIRE gene.

Conclusion: Acquired generalised lipodystrophy is known to be associated with autoimmune disorders. To our knowledge, however, this is the first time when generalised lipodystrophy is described as initial manifestation of APS1.

Funding: This work was supported by Alfa-Endo Program of Charities Aid Foundation (CAF) Russia.

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