Pre-Amyloidosis Red-Flag Clinical Diagnoses in Light Chain (AL) Versus Age-Related Transthyretin (ATTRwt) Amyloidosis: Electronic Health Record–Based Descriptive Study - Summary - MDSpire

Pre-Amyloidosis Red-Flag Clinical Diagnoses in Light Chain (AL) Versus Age-Related Transthyretin (ATTRwt) Amyloidosis: Electronic Health Record–Based Descriptive Study

  • By

  • Noel Estrada-Merly

  • Liliana E Pezzin

  • Rodney Sparapani

  • Anita D'Souza

  • June 22, 2026

  • 0 min

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Objective:

To compare red-flag clinical diagnoses preceding the diagnosis of AL and ATTRwt amyloidosis to describe differences in symptom recognition.

Approach:
    Key Findings:
    • AL patients were younger (mean age 68, SD 11.8) compared to ATTRwt patients (mean age 77, SD 8.1; P<.001).
    • Cardiac red-flag diagnoses were more common in ATTRwt patients, with 72% having heart failure compared to 45% in AL (P<.001).
    • Renal involvement was higher in AL, with 43% having chronic kidney disease versus 37% in ATTRwt (P<.001).
    • Gastrointestinal symptoms were more frequent in AL, including dysphagia (18% vs 10%; P<.001) and nausea/vomiting (20% vs 12%; P<.001).
    • Neurologic red flags were higher in AL, while carpal tunnel syndrome was more prevalent in ATTRwt (28% vs 12%; P<.001).
    Interpretation:

    Distinct clinical patterns were observed prior to diagnosis, with AL patients showing more renal and gastrointestinal symptoms, while ATTRwt patients presented more with cardiac symptoms.

    Limitations:
    • Reliance on ICD codes may miss subclinical manifestations and depends on healthcare recognition of red-flag diagnoses.
    • Sensitivity and specificity of ICD codes for AL and ATTRwt are unknown.
    Conclusion:

    The study highlights the potential for using EHR data to identify patients with amyloidosis sooner.

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