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Bronchiectasis in a patient with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: a case report.

Margherita S Silani^1,2, Edoardo Simonetta³, Andrea Gramegna^1,2

¹Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.

BMC Pulmonary Medicine

|October 31, 2024

Summary

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) can cause lung disease, as seen in this Sardinian patient. Early screening and multidisciplinary care are crucial for managing APECED-related pulmonary complications like bronchiectasis.

Keywords:

APECED APS-1 Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Autoimmune pneumonitis Autoimmune polyendocrine Syndrome-1 Bronchiectasis Case report Treatable traits

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Area of Science:

Endocrinology
Pulmonology
Genetics

Background:

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) is a rare monogenic disorder causing multisystem autoimmunity.
Pulmonary involvement, particularly autoimmune pneumonitis and bronchiectasis, is a rare but potentially fatal manifestation of APECED.

Observation:

A 49-year-old Sardinian female with APECED presented with recurrent respiratory infections and chronic sputum.
Imaging revealed diffuse bronchiectasis, and sputum cultures showed Pseudomonas aeruginosa, later complicated by MRSA and Mycobacterium intracellulare infections.

Findings:

This is the first reported case of lung involvement in APECED within the Sardinian population.
The patient was diagnosed with bronchiectasis and subsequent infections after a significant delay in pulmonary evaluation.

Implications:

Highlights the critical need for early and systematic pulmonary screening in APECED patients, especially in high-incidence populations.
Emphasizes the importance of a multidisciplinary approach for optimal management of APECED-associated lung disease and its complications.