Background: Immunoglobulin light-chain (AL) amyloidosis is a rare plasma cell disorder with multiorgan involvement. Delayed diagnosis remains prevalent, contributing to high early mortality, particularly among patients with cardiac involvement.
Objectives: This study aimed to evaluate the diagnostic journey of AL amyloidosis patients, including presenting symptoms, diagnostic pathways, and perspectives on delays in diagnosis.
Methods: A cross-sectional survey was conducted through the HealthTree® CureHub among individuals with AL amyloidosis.
Results: Eighty-seven patients completed the survey between 03/12/2023 to 07/10/2024. Median age was 66 years. Initial signs/symptoms were most often self-identified. Most individuals experienced 1 to 3 symptoms, most commonly fatigue, weakness, and swelling. Most patients first sought care from primary care physicians (37%) or organ specialists (27%). A median of 3 providers were seen before diagnosis. Cardiologists and nephrologists established the diagnosis in only 16% and 14% of cases, respectively. A diagnostic delay was reported by 59%, with 35% experiencing delays >12 months; approximately 50% attributed the delay to lack of provider awareness, and 65% felt the diagnostic process required significant improvement.
Conclusions: Diagnostic delays remain a major challenge in AL amyloidosis. Since general practitioners and organ specialists are often the first point of contact, increasing awareness among these providers may improve diagnostic timelines.
Keywords: Diagnosis; Light chain; Survey; Symptoms.
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