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Abstract
Patients with transthyretin amyloidosis (ATTR) polyneuropathy, a hereditary fatal disease, often report defects in both thermal perception and autonomic nervous system function as their first clinical symptoms. While elevated thermal perception thresholds (TPT) for cold and warmth only recently have been shown as an early marker of small nerve fiber dysfunction in these patients, heart rate variability (HRV) has frequently been used to quantify autonomic neuropathy. The main purpose with this report was to elucidate a possible relationship between estimates of HRV and TPT in a selected group of early and late-onset Swedish Val30Met ATTR patients. The results show significantly more pronounced elevation of TPT in early compared to late-onset patients. Significant correlations between HRV and TPT were found among late-onset cases, indicating a possible relationship between loss of thin nerve fibers in somatic and autonomic nerves, while generally no such relationships were found among early-onset cases. This observation emphasizes the importance of testing both HRV and TPT to ensure optimal early detection of neuropathic changes in an as wide as possible range of small nerve fibers in suspected ATTR patients. This is of particular importance as the phenotype of the ATTR disease varies between groups with different age of onset.
Acknowledgements
Christina Frykholm and Hans-Erik Lundgren at the familial amyloidotic polyneuropathy-team, Umeå University Hospital, for skilful management of patients.
Declaration of interest: The study was supported by grants from the amyloidosis patient ssociations’ FAMY, FAMY-Norrbotten and the Amyl foundation, the Swedish Heart and Lung Foundation, and the Research Foundation at the Department of Pharmacology and Clinical Neurosciences, Umeå University.