Renal AA amyloidosis associated with a TRAPS-like autoinflammatory phenotype and TNFRSF1A R92Q variant in adulthood.
Taha Enes Cetin, Serhat Haliloglu, Omer Faruk Akcay et al.
✦ AI-curated · Sources linked
Case in brief
A 48-year-old male with a history of vitiligo presented with nephrotic syndrome, leading to a diagnosis of AA amyloidosis via renal biopsy. The absence of typical inflammatory symptoms delayed the recognition of an underlying autoinflammatory condition. Despite treatment attempts, the patient progressed to end-stage renal disease and ultimately died from septic shock. Genetic analysis post-mortem revealed a TNFRSF1A variant, suggesting a TRAPS-like phenotype.
What made this case unusual
The case exemplifies adult-onset TRAPS-like autoinflammatory phenotypes presenting without classical inflammatory symptoms, with AA amyloidosis as the initial clinical manifestation.
Diagnostic / clinical pearl
Clinicians should consider autoinflammatory diseases in adults with unexplained AA amyloidosis, particularly when secondary causes have been ruled out.
Why it matters
Recognizing atypical presentations of autoinflammatory syndromes may facilitate earlier intervention, potentially mitigating progressive organ damage.