Abstract Details

Title Overview of Patient Demographics and Clinical Characteristics in THAOS [mdash] The Transthyretin Amyloidosis Outcomes Survey

Topic Peripheral Nerve

Presentation(s) P05 - (-)

Poster/Presentation
Number 067

Objective

Background BACKGROUND: Transthyretin (TTR) amyloidosis is a rare, life-threatening, systemic condition with considerable heterogeneity in disease presentation. Hereditary TTR amyloidosis is caused by over 100 different TTR gene mutations associated with primarily polyneuropathic, primarily cardiac, or mixed phenotypes.

Design/Methods DESIGN/METHODS: THAOS is the first global, multicenter, longitudinal, observational survey that collects data on the natural history of TTR amyloidosis (ClinicalTrials.gov: NCT00628745).

Results RESULTS: Of 1224 patients enrolled in THAOS as of March 2012, 1111 patients were diagnosed with TTR mutations: 781 symptomatic patients with hereditary TTR amyloidosis and 330 asymptomatic patients. Forty-five TTR mutations were reported across 19 countries. While predominant symptom presentation differed according to TTR mutation, each mutation was associated with multisystem involvement. For Val30Met patients with neuropathic symptoms definitely related to TTR amyloidosis (n=479) motor neuropathy was observed more frequently in patients with late-onset (age ?50 years) than early-onset (age <50 years) disease (P<0.001), whereas the reverse was true for autonomic neuropathy (P<0.001). No difference was observed for sensory neuropathy. In the corresponding non-Val30Met population (n=177), autonomic neuropathy was less common than in Val30Met patients (P<0.001); however, sensory and autonomic neuropathies tended to be more frequently associated with early- than late-onset disease. Among non-Val30Met patients, females tended to report more sensory neuropathy symptoms than males, suggesting potential gender effects in disease presentation. These findings will be updated with additional data from the September 2012 extraction of data from THAOS.

Conclusions CONCLUSIONS: This analysis suggests considerable variability among neuropathic phenotypes in patients with hereditary TTR amyloidosis enrolled in THAOS.

Authors/Disclosures
PRESENTER	No disclosure on file
Teresa Coelho, MD (Unidate Clinica de Paramoloidose Hospital)	Dr. Coelho has nothing to disclose.
	No disclosure on file
William Baskett	No disclosure on file
Nissim Sasson (TEVA Pharmaceuticles)	No disclosure on file

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