Clinical Epidemiology and Ageing

Amyloidosis from the patient perspective: the French daily impact of amyloidosis study.

Damy T, Adams D, Bridoux F, Grateau G, Planté-Bordeneuve V, Ghiron Y, Farrugia A, Pelcot F, Taieb C, Labeyrie C, Jaccard A, Georgin-Lavialle S Amyloid. 2022;29(3):165-174.

BACKGROUND: Amyloidosis is a complex group of rare conditions. For patients, amyloidosis is severely debilitating: physically and psychologically. Currently, data are lacking to evaluate the medical, economic, and social burden of systemic amyloidosis.

OBJECTIVE: To analyse the patient burden according to the main types of systemic amyloidosis.

METHODS: The French Daily Impact of Amyloidosis study was an observational, cross-sectional and non-interventional study. Adults diagnosed with light chain (AL), transthyretin (ATTR), amyloid A (AA) and other rare forms of amyloidosis were eligible. Data regarding amyloidosis prevalence, diagnosis, management, and impact on everyday life were collected using a study-specific survey built by the Association Française Contre l'Amylose (AFCA) and the four French National Referral Centres for Amyloidosis.

RESULTS: A total of 603 patients, predominantly male (65%) with an average age of 66.8 years, including 170 AL, 224 ATTRv, 109 ATTRwt and 25 AA amyloidosis patients, completed the study-specific survey. The median delay from presentation to confirmed diagnosis was 27.4 months but varied according to amyloidosis type. Patients before diagnosis had breathlessness (49%), tingling sensation (33%), pain (28%), difficulty in walking (28%) and weight loss (22%). Amyloidosis was most frequently suspected (49%) and confirmed (57%) in local hospitals but managed in French amyloidosis referral centres (58%). Patients often reported problems with mobility, usual activities, pain/discomfort and anxiety/depression, but not with self-care.

CONCLUSIONS: Systemic amyloidosis severely impacts daily life. The delay to confirmed amyloidosis diagnosis needs to be reduced. Early, effective treatment is required to optimise patient benefits.

MeSH terms: Aged; Amyloid Neuropathies, Familial; Amyloidosis; Cross-Sectional Studies; Female; Humans; Immunoglobulin Light-chain Amyloidosis; Male; Pain; Prealbumin; Serum Amyloid A Protein
DOI: 10.1080/13506129.2022.2035354