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Severe Phenotype of APECED (APS1) Increases Risk for Structural Bone Alterations
Saila Laakso1,2,3, Joonatan Borchers1,2,3, Sanna Toiviainen-Salo1,3,4
1Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Frontiers in Endocrinology
|March 27, 2020
Summary
Patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) show altered bone structure, particularly in the tibia. Bone health is compromised in APECED patients with more severe phenotypes, increasing fracture risk with age.
Area of Science:
- Endocrinology
- Immunology
- Bone Biology
Background:
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) involves immunological abnormalities and endocrinopathies that may affect bone health.
- Understanding skeletal characteristics in APECED patients is crucial for managing potential bone complications.
Purpose of the Study:
- To describe skeletal characteristics in patients with APECED.
- To determine the prevalence and risk factors of compromised bone health in APECED patients.
Main Methods:
- Cross-sectional study comparing 44 APECED patients with 82 age-, gender-, and ethnicity-matched controls.
- Bone mineral density assessed by dual-energy X-ray absorptiometry (DXA).
- Skeletal characteristics evaluated using peripheral quantitative computed tomography (pQCT) at the radius and tibia.
Main Results:
- Osteoporosis detected in 9% of adult APECED patients; higher prevalence of non-spinal fractures compared to controls.
- APECED patients exhibited lower total and trabecular volumetric bone mineral density at the distal tibia.
- Reduced cortical thickness at the proximal tibia was observed in APECED patients.
- A more severe APECED phenotype correlated with lower bone mineral density and cortical thickness, especially at the tibia.
Conclusions:
- APECED is associated with significant bone structural alterations, particularly in patients with multiple disease manifestations.
- These bone changes may elevate the risk of fractures in aging APECED patients.
- Despite bone alterations, clinically apparent osteoporosis was infrequent in the studied cohort.
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