Amyloidosis is widely recognized as an underdiagnosed condition with several key challenges:
- Delayed diagnosis - Recent evidence indicates median delays of 7-24 months from symptom onset to diagnosis
- Diagnostic overlap - Clinical features mimic more common conditions (heart failure, chronic kidney disease)
- Non-specific early symptoms - Fatigue, weight loss, and dyspnea are often attributed to age or comorbidities
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Phenotypic heterogeneity - Variable presentation depending on organ involvement
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Limited awareness - Many clinicians lack familiarity with the condition, particularly non-specialists
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"Red flag" symptoms often missed - Key features like periorbital purpura, macroglossia, and shoulder pad sign overlooked
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Historical associations - Outdated perception that amyloidosis is rare and untreatable leads to diagnostic nihilism
Current evidence suggests that cardiac amyloidosis is diagnosed in only about 18% of patients at initial cardiac evaluation, with average diagnostic delays exceeding 15 months in those with ATTR amyloidosis.
