Keywords
Autoinmune polyglandular syndrome type 3A
Inmune Overlap Syndrome
hereditary dehydrated stomatocytosis
Orphan disease
How to Cite
Abstract
Introduction: Autoimmune polyglandular syndrome is an autoimmune entity characterized by the presence of two glandular insufficiencies in association with other non-endocrine immunological diseases, with four subtypes currently recognized.
Objective: To report the case of an 18-year-old woman with autoimmune polyglandular syndrome type 3A, rheumatoid arthritis, and dehydrated hereditary stomatocytosis, emphasizing that the coexistence of these conditions has not been previously described in the literature.
Case presentation: We present the case of an asymptomatic 18-year-old woman with altered glucose levels detected during routine laboratory testing, who subsequently developed synovitis in the hands with documented rheumatoid arthritis and persistent anemia related to hereditary dehydrated stomatocytosis.
Discussion: Autoimmune polyglandular syndrome type 3A (APS-3A) has a significant association with rheumatoid arthritis (RA). However, in this patient, it coexists with another rare genetic condition, hereditary stomatocytosis. This is the first description in the literature of the coexistence of these conditions.
Conclusion: There is limited literature addressing the association between diabetes mellitus, rheumatoid arthritis, and hereditary dehydrated stomatocytosis, underscoring the importance of this case.
References
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