AMYLOIDOSIS RESEARCH CONSORTIUM CARDIAC AMYLOIDOSIS SURVEY: RESULTS FROM PATIENTS WITH AL AND ATTR AMYLOIDOSIS AND THEIR CAREGIVERS

Abstract

Background Cardiac amyloidosis (CA) is a severe, progressive, and fatal disease. Amyloid transthyretin (ATTR), due to the wild-type (wtATTR) or hereditary (hATTR) transthyretin, and amyloid light chain (AL) amyloidosis may result in CA. Nonspecific symptoms of CA can cause delays in diagnosis until the disease is advanced. We report the results of the largest international CA patient survey ever conducted analyzing delays and errors in the diagnostic pathway. Methods The Amyloidosis Research Consortium (ARC) developed an online survey, which was distributed to patient lists of ARC, the Amyloidosis Foundation, and Amyloidosis Support Groups in January 2017. The survey was designed for all forms of amyloidosis, but this report is limited to AL and ATTR amyloidosis, and included responses from the United States, United Kingdom, France, Netherlands, and Spain. The questions focused on diagnosis, barriers to healthcare, and patients’ disease state. Results At the time of this analysis, there were 581 total responders, 438 (233 patients, 205 caregivers) for AL amyloidosis and 143 (79 patients, 64 caregivers) for ATTR amyloidosis (89 hATTR, 54 wtATTR). There was alignment across responses from patients and caregivers. For all forms of amyloidosis, heart involvement was highly prevalent including in patients with wtATTR (94% [33/34]), hATTR (82% [37/45]), and AL amyloidosis (90% [210/233]) based on self-reported current heart involvement. With the exception of wtATTR that primarily has cardiac involvement, other organs were often affected including the kidney (52%) and GI (42%) in AL amyloidosis and nerves (76%) and GI (40%) in hATTR amyloidosis. Common initial symptoms were shortness of breath and fatigue. Delays and misdiagnosis was common. Many patients visited 3-5 different physicians before diagnosis, >40% of patients received a misdiagnosis, and many received treatment for the misdiagnosed condition. Conclusions This represents the largest patient survey of patients with CA. Multi-organ involvement, delays in diagnosis, and misdiagnosis are common. Disease awareness and understanding of common presenting symptoms is vital, especially among those to whom patients are initially referred.