Autonomic description in patients with very early TTR amyloidosis (Familial Amyloid Polyneuropathy). (P2.115)

Objective: To describe autonomic dysfunction between different methods of assessment in patients with ATTR at an early stage of the disease.

Background: Autonomic dysfunction is infrequently considered or limited to orthostatic hypotension or erectile dysfunction. These is insufficient to warrant treatment for life, and more objective measurements should be regarded.

Design/Methods: Thirty-three patients were selected from a cohort of patients with TTR amyloidosis that fulfilled the diagnostic criteria: a positive amyloid mutation, stage 0 or I in Coutinho’s classification, and abnormal neurophysiologic or cardiologic tests that would show initiation of the disease. All patients completed all the clinical and autonomic evaluations.

Results: Peripheral Neuropathy: Mean NIS was 6.9±12.8 points (0–61), mean UTAH Scale was 4.5±5.2 points (0–18), and mean Neuropathic score NTSS-6 was 3.9±5.4 points (health care professional) and 15.2±5.5 (self-administated). HRDB: All patients were below the 5th percentil for their age with HR response to DB. Mean E:I ratio was significantly more impaired in patients older than 40yo (24 vs 7 beats, p=0.001). Valsalva Ratio: VR was abnormal in 42% of patients above 40 years old. Tilt Test: SBP drop was higher in the tilt test than the standing up test with a mean drop of the SBP 74±17.7mmHg (100–27mmHg) with a maximum HR at minimum SBP significantly lower in patients older than 40 years old (125.9 vs 74 beats), p=0.000). 24-h BP recording: Mean SBP change was −84±26.6mmHg(−139—36mmHg), and DBP change was −83±31.9mmHg (−172-0). Spectral Analysis of HRV: Statistical difference was found between older than 40 years old and younger in SDNN (19.2±9.4 vs 56.6±31.1, P=0.003), TINN (230.99±126.7 vs 571.62±284.8, P=0.006), rMSSD (7±9.53 vs 24±34, P=0.42).

Conclusions: Even at a very early stage of somatic neuropathy the patients showed important alterations in all autonomic tests.

Disclosure: Dr. Gonzalez Duarte has nothing to disclose. Dr. Bañuelos has nothing to disclose. Dr. García has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Pfizer and Anhylam pharmaceuticals. Dr. García has received research support from Pfizer. Dr. Fueyo has nothing to disclose. Dr. Dominguez has nothing to disclose. Dr. Cardenas-Soto has nothing to disclose.