Light Chain Amyloidosis: Patient Experience Survey from the Amyloidosis Research Consortium.
BACKGROUND
Information detailing the experience of patients with light chain (AL) amyloidosis is lacking. The primary aim of this study was to gather data on the patient experience to understand the challenges in diagnosis and to gain insight into barriers to accessing appropriate care.


METHODS
Patients with amyloidosis, family members, and caregivers were invited to participate in an online 16-question survey (available from January 29 to February 5, 2015). Participants with AL amyloidosis were sent an eight-question follow-up survey.


RESULTS
The initial survey was completed by 533 participants (follow-up survey completed by 201 participants). AL amyloidosis was the most common diagnosis. For 37.1% of respondents, the diagnosis of amyloidosis was not established until ≥ 1 year after the onset of initial symptoms. Diagnosis was received after visits to 1, 2, 3, 4, or ≥ 5 physicians by 7.6%, 23.5%, 20.3%, 16.8%, and 31.8% of respondents, respectively. Correct diagnosis was most often made by hematologists/oncologists (34.1%). Treatments included chemotherapy (63.1%) and stem cell transplantation (38.9%) and were difficult to tolerate for 54.1% of respondents. A significant number of respondents felt uninformed about clinical trials. Nevertheless, approximately half (46.1%) believed that enrolling in a trial would enhance their care.


CONCLUSIONS
Establishing a diagnosis of amyloidosis is difficult. Current treatments are difficult to tolerate and do not substantially improve quality of life for most patients. There is an urgent need for well-tolerated therapies with clear treatment benefit. Patient awareness of clinical trials can be improved, especially given that respondents indicated high willingness to participate.
Amyloidosis Research Consortium, Boston, MA, USA. isabelle.lousada@gmail.com.
Isabelle
I
Lousada
Department of Medicine, Tufts Medical Center, Boston, MA, USA.
Raymond L
RL
Comenzo
Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Heather
H
Landau
Prothena Biosciences Inc, South San Francisco, CA, USA.
Spencer
S
Guthrie
Department of Molecular Medicine, Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.
Giampaolo
G
Merlini
D000368:Aged; D000686:Amyloidosis / Q000175:diagnosis / Q000523:psychology / Q000628:therapy*; D005260:Female; D006297:Health Services Accessibility; D006801:Humans; D008297:Male; D008875:Middle Aged; D011788:Quality of Life; D033581:Stem Cell Transplantation; D011795:Surveys and Questionnaires
Disease awareness; Early diagnosis; Patient survey; Systemic amyloidosis; Treatment