Diagnostic Journeys and Delays in AL Amyloidosis: Insights From a Cross-Sectional Patient Survey

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.

This study aimed to evaluate the diagnostic journey of AL amyloidosis patients, including presenting symptoms, diagnostic pathways, and perspectives on delays in diagnosis.

A cross-sectional survey was conducted through the HealthTree® CureHub among individuals with AL amyloidosis.

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.

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.