Autoimmune polyendocrine syndrome 3 onset with severe ketoacidosis in a 74-year-old woman.

Case Rep Endocrinol

Department of Biomedical Sciences for Health, Università degli Studi di Milano, Via Morandi 30, San Donato Milanese, 20097 Milan, Italy ; Endocrinology Unit, IRCCS Policlinico San Donato, Via Morandi 30, San Donato Milanese, 20097 Milan, Italy.

Published: March 2015

Type 1 diabetes mellitus (T1D), autoimmune thyroid disease, and autoimmune gastritis often occur together forming the so-called autoimmune polyendocrine syndrome type 3 (APS3). We here report a clinical case of a 74-year-old woman who presented for the first time with severe hyperglycemia and ketoacidosis diagnosed as T1D. Further clinical investigations revealed concomitant severe hypothyroidism with autoimmune thyroid disease and severe cobalamin deficiency due to chronic atrophic gastritis. The diagnosis of type 1 diabetes mellitus was confirmed by the detection of autoantibodies against glutamic acid decarboxylase 65, islet cell antibodies, and anti-insulin autoantibodies. Anti-thyroperoxidase, anti-thyroglobulin, and anti-gastric parietal cell antibodies were also clearly positive. The case emphasized that new onset diabetic ketoacidosis, hypothyroidism, and cobalamin deficiency may simultaneously occur, and one disease can mask the features of the other, thereby making diagnosis difficult. It is noteworthy that an APS3 acute episode occurred in an asymptomatic elder woman for any autoimmune diseases.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4363573PMC
http://dx.doi.org/10.1155/2015/960615DOI Listing

Publication Analysis

Top Keywords

autoimmune polyendocrine
8
polyendocrine syndrome
8
74-year-old woman
8
type diabetes
8
diabetes mellitus
8
autoimmune thyroid
8
thyroid disease
8
cobalamin deficiency
8
cell antibodies
8
autoimmune
6

Similar Publications

Autoimmune polyendocrine syndromes (APS) is a rare group of disorders caused by impaired function of multiple endocrine glands due to disruption of immune tolerance. Of which, type 2 (APS-2) is the most common. Glutamic acid decarboxylase (GAD) is the rate-limiting enzyme for the synthesis of gamma-aminobutyric acid (GABA).

View Article and Find Full Text PDF

Detection rate and clinical characteristics of coexisting autoimmune diseases in children with Graves' disease: a single-center study from China.

Endocrine

January 2025

Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

Purpose: This study aimed to determine the detection rate of autoimmune polyendocrine syndrome (APS) among children with Graves' disease (GD) at a single center and to compare clinical characteristics between those with isolated GD and those GD with APS (APS-GD).

Methods: A retrospective analysis was conducted on the clinical data of 555 patients and were categorized into isolated GD and APS-GD groups based on their progression status. The time for FT to return to normal was used as an indicator of short-term treatment effectiveness.

View Article and Find Full Text PDF
Article Synopsis
  • APECED is a rare genetic syndrome characterized by autoimmune issues that can affect multiple systems, including the lungs, and is particularly prevalent in the Sardinian population.
  • A 49-year-old Sardinian woman with APECED presented to a bronchiectasis clinic with chronic respiratory issues, and her CT scan revealed significant bronchiectasis along with infections from P. aeruginosa, MRSA, and M. intracellulare.
  • This case marks the first known lung involvement in a Sardinian APECED patient, highlighting the need for increased awareness and earlier screening for pulmonary complications in similar patients.
View Article and Find Full Text PDF
Article Synopsis
  • * A study on a 16-year-old female patient with APS3A/B used whole-exome sequencing to uncover two genetic variants in the TIM-3 protein that may affect her autoimmune response and overall health.
  • * Additional analyses revealed that, despite similar TIM-3 fluorescence levels to healthy donors, the patient exhibited decreased TIM-3 expression, and unique mutations were found in her compared to a cohort of APS patients, highlighting the potential for new genetic insights in APS classification.
View Article and Find Full Text PDF

The multiple faces of autoimmune Addison's disease in children.

Front Endocrinol (Lausanne)

October 2024

Pediatric Endocrinology Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.

Article Synopsis
  • Primary adrenal insufficiency (PAI) is a rare but serious condition caused by low adrenal hormones, often difficult to diagnose due to non-specific symptoms.
  • In adults, autoimmunity is the leading cause of PAI, while in children, congenital issues like congenital adrenal hyperplasia (CAH) are more common, though autoimmune cases are also emerging.
  • This review aims to consolidate current knowledge on the causes, symptoms, and treatment of autoimmune PAI in kids to help doctors recognize early warning signs.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!