Quality of Life and AL Amyloidosis

James Radke, PhD

AL Amyloidosis is a rare disease in which called amyloid builds up in a person’s organs. Since different organ can be affected, the list of symptoms can vary greatly from patient to patient. This creates two problems. First, it is often difficult to diagnose quickly because the symptoms are fairly common (swelling, fatigue, shortness of breath, numbness, gastrointestinal problems etc) and second, the variety of symptoms make it difficult to quantify quality of life issues in clinical trials.
To address these concerns, White et al undertook a quality of life survey involving patients with AL amyloidosis as well as a select group of clinicians who manage the condition The results were presented at the 57th ASH Annual Meeting held in Orlando Florida, December 4-8, 2015.
In the interviews involving the clinicians, 3 hematologists and 1 nephrologist were questioned on (a) journey to diagnosis, including how health-related quality of life (HRQoL) is evaluated in everyday practice, and (b) HRQoL concepts that impact how AL patients feel and function.
For the interview with patients (n=10), they provided input on journey to diagnosis and impact the disease has had on their quality of life.

Clinician Interviews

According to the clinicians, the average time to diagnosis was at least 10 months and in that period, patients often consulted 3 or 4 specialists looking for a diagnosis.
The clinicians interviewed called AL amyloidosis  “a great masquerader” because it presents in different organs and many symptoms are common to other diseases.
Regarding the use of a quality of life score, the clinicians interviewed did not use any standardized assessments for HRQoL. In stead, they asked general questions about fatigue, sleep, pain, and impact on work. All interviewees agreed that a standard HRQoL assessment would be helpful but cautioned that such a test would be time consuming in the real world setting.
If a HRQoL were used, the clinicians said the most important measures should include physical functioning, vitality/fatigue, pain, ability to work and perform other roles, general health, and sleep. Psychological measures for depression and anxiety was also suggested..

Patient Interviews

The patients reported the average time to diagnosis was 2 years and ranged from 3 months to 4 years. During that period, they consulted an average of 3 different specialists to reach a diagnosis. The type of physician specialist consulted depended on the organ involved.
Patients reported a broad range of serious HRQoL impacts from AL amyloidosis and included impairments in physical function and mobility, energy level, ability to work, participation in leisure activities, role in family, social relationships, mental health, sleep, cognitive function, ability to exercise, and ability to perform activities of daily living.


Based on the surveys, the authors concluded that both physicians and patients reported significant challenges in diagnosing Al amyloidosis and the condition creates severe impairments across a broad range of HRQoL concepts.
The authors noted that HRQoL scores should be used in clinical trials being used to develop treatment options for AL amyloidosis.
The study authors included members of the Amyloidosis Support Group, the Amyloidosis Foundation, and Prothena Biosciences. The latter company is developing an orphan drug, NEOD001, to treat patients with AL amyloidosis. A phase 3 clinical trial in underway.


White MK, Bayliss M, Finkel M, Lousada I, Guthrie S. Health-Related Quality of Life in Patients with AL Amyloidosis: Qualitative Interviews with Physicians and Patients. Presented at the American Society of Hematology Annual Meeting; Orlando, FL; December 4-8, 2015. Abstract 4525
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