Findings from the Canadian Registry for Amyloidosis Research: Neurological Manifestations
Rami Massie1, Diego Delgado2, Christopher Venner3, Vera Bril2, Donna Reece2, Steven Baker4, Victoria Hodgkinson5, Nowell Fine6, Margot Davis3
1McGill University, 2University of Toronto, 3University of British Columbia, 4McMaster University, 5Lumiio Inc., 6University of Calgary
Objective:
The objective of the Canadian Registry for Amyloidosis Research (CRAR) is to improve the understanding of the Canadian amyloidosis landscape in order to improve patient care. In this study, we report neuropathy data from an initial cohort of Canadians with amyloidosis.
Background:
Neurological manifestations are common in AL and ATTR amyloidosis, though the true prevalence in each type is not well understood. With recent advances in disease-modifying therapies, it is critical to better understand neuromuscular progression to inform longer-term therapeutic and surveillance strategies.
Design/Methods:
CRAR is a nationwide disease registry of amyloidosis patients. Data is collected at specialty clinics across Canada and abstracted by trained coordinators.
Results:
Of the initial 403 patients enrolled, 281 were ATTR, 98 AL, and 20 other. Patients were 20% (n=80) female. Among ATTR patients, 18 different TTR gene mutations were reported in 39 individuals (19% of 204 with testing reported), with Val30Met (n=15) the most common. Of ATTR patients with polyneuropathy (25%, n=70), 21% report sensory involvement, 37% both motor and sensory, with 41% unknown/not reported. Among AL patients, 13% (n=13) report neuropathy, including 15% motor, 15% both motor and sensory, and 69% not reported. For ATTR, 30% reported autonomic involvement, and 33% of AL individuals. Of 281 ATTR patients, 17% (48) report neuropathic pain (21% for hATTR, 17% for wtATTR), compared to 5% (5) for AL. Forty-six % of ATTR report carpal tunnel syndrome, compared to 9% of AL patients. 53% of ATTR patients are reported currently on a TTR-directed therapy.
Conclusions:
In a Canadian registry we report polyneuropathy in 25% of ATTR and 13% of AL, with autonomic involvement in 30% of ATTR and 33% of AL, and neuropathic pain in only 17% of ATTR and 5% of AL patients. Efforts to improve further neuropathy characterization in these cohorts are necessary.
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