1. Neurological affection and serum neurofilament light chain in wild type transthyretin amyloidosis.
- Author
-
Pernice HF, Knorz AL, Wetzel PJ, Herrmann C, Muratovic H, Rieber F, Asaad E, Fiß G, Barzen G, Blüthner E, Knebel F, Spethmann S, Messroghli D, Heidecker B, Brand A, Wetz C, Tschöpe C, and Hahn K
- Subjects
- Humans, Male, Female, Middle Aged, Aged, Biomarkers blood, Peripheral Nervous System Diseases blood, Peripheral Nervous System Diseases diagnosis, Aged, 80 and over, Prospective Studies, Adult, Amyloid Neuropathies, Familial blood, Amyloid Neuropathies, Familial genetics, Amyloid Neuropathies, Familial diagnosis, Neurofilament Proteins blood, Quality of Life
- Abstract
In contrast to inherited transthyretin amyloidosis (A-ATTRv), neuropathy is not a classic leading symptom of wild type transthyretin amyloidosis (A-ATTRwt). However, neurological symptoms are increasingly relevant in A-ATTRwt as well. To better understand the role of neurological symptoms in A-ATTRwt, A-ATTRwt patients were prospectively characterized at Amyloidosis Center Charité Berlin (ACCB) between 2018 and 2023 using detailed neurological examination, quality of life questionnaires, and analysis of age- and BMI-adapted serum neurofilament light chain (NFL) levels. 16 out of 73 (21.9%) patients presented with a severe neuropathy which we defined by a Neuropathy Impairment Score (NIS) of 20 or more. In this group, quality of life was reduced, peripheral neuropathy was more severe, and spinal stenosis and joint replacements were frequent. Age- and BMI matched serum NFL levels were markedly elevated in patients with a NIS ≥ 20. We therefore conclude that highly abnormal values in neuropathy scores such as the NIS occur in A-ATTRwt, and have an important impact on quality of life. Both peripheral neuropathy and spinal canal stenosis are likely contributors. Serum NFL may serve as a biomarker for neurological affection in patients with A-ATTRwt. It will be important to consider neurological aspects of A-ATTRwt for diagnosis, clinical follow-up, and future treatment development., (© 2024. The Author(s).)
- Published
- 2024
- Full Text
- View/download PDF