DOI: 10.12890/2025_005677
Respiratory-predominant relapsing polychondritis: the role of PET scan in making this challenging diagnosis
Authors
dralves94@gmail.com
Keywords
Myelodysplasia, autoinflammatory disease, VEXAS syndrome, respiratory-predominant, relapsing polychondritisAbstract
Relapsing polychondritis is a rare, immune-mediated, multisystemic disease characterized by recurrent inflammation of cartilaginous and proteoglycan-rich tissues. Its diagnosis may be challenging due to its rarity and wide clinical variability. It can be primary or associated with other autoimmune conditions. Recently, it has been associated with an autoinflammatory disease known as vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome. We present a case of a 65-year-old man with respiratory-predominant relapsing polychondritis. This case illustrates the diagnostic complexity of relapsing polychondritis, where multiple initial investigations were inconclusive. We highlight the pivotal role of the fluorine-18 fluorodeoxyglucose positron emission tomography scan, which provided the key evidence of cartilaginous inflammation, ultimately guiding the diagnosis in this atypical presentation.
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