Clinicopathological Features of Amyloid Neuropathy: A Four Decade Experience.
Journal
Neurology India
ISSN: 1998-4022
Titre abrégé: Neurol India
Pays: India
ID NLM: 0042005
Informations de publication
Date de publication:
01 May 2024
01 May 2024
Historique:
received:
30
06
2021
accepted:
31
10
2021
medline:
23
7
2024
pubmed:
23
7
2024
entrez:
23
7
2024
Statut:
ppublish
Résumé
Peripheral neuropathy is one of the manifestations of primary or familial amyloidosis. Published studies from India are limited. We reviewed the clinical and pathological features of amyloid neuropathy diagnosed at our Institute over the last 39 years. Fifty-five cases of amyloid neuropathies were diagnosed between 1981 and 2019, constituting 0.28% of peripheral nerve biopsies (55/19,081). Age at presentation ranged from 24 to 81 years (mean-48 years) with male preponderance [M:F = 3.58:1]. Duration of symptoms at presentation varied from 3 months to 10 years (mean-2.31 years). Majority presented with small fiber neuropathy (85%). Pure sensory symptoms predominated in 23%, while 72% had sensorimotor neuropathy and 35.8% had autonomic involvement, with isolated autonomic failure in one patient. Amyloid neuropathy was clinically suspected in 22.6% of nonfamilial cases. Familial amyloid neuropathy was suspected in eight patients. Genetic testing detected ATTR and gelsolin mutation in one each of tested patients. Nerve biopsies revealed characteristic birefringent amyloid deposits stained mahogany brown by Congo red predominantly surrounding endoneurial microvessels (34.5%), also in perineurium and epineurium in 25.45% cases. Preferential loss of small diameter myelinated fibers was noted. Axonal degeneration or regeneration was conspicuously absent. Amyloid neuropathy is uncommon (0.28% of nerve biopsies in our series). Nerve biopsy is essential for the diagnosis. We report our experience of amyloid neuropathy and underscore the importance of making an assiduous search for amyloid deposits in the appropriate setting. Awareness of this entity is important for early diagnosis in the light of emerging therapeutic advances.
Sections du résumé
BACKGROUND
BACKGROUND
Peripheral neuropathy is one of the manifestations of primary or familial amyloidosis. Published studies from India are limited.
MATERIALS AND METHODS
METHODS
We reviewed the clinical and pathological features of amyloid neuropathy diagnosed at our Institute over the last 39 years.
RESULTS
RESULTS
Fifty-five cases of amyloid neuropathies were diagnosed between 1981 and 2019, constituting 0.28% of peripheral nerve biopsies (55/19,081). Age at presentation ranged from 24 to 81 years (mean-48 years) with male preponderance [M:F = 3.58:1]. Duration of symptoms at presentation varied from 3 months to 10 years (mean-2.31 years). Majority presented with small fiber neuropathy (85%). Pure sensory symptoms predominated in 23%, while 72% had sensorimotor neuropathy and 35.8% had autonomic involvement, with isolated autonomic failure in one patient. Amyloid neuropathy was clinically suspected in 22.6% of nonfamilial cases. Familial amyloid neuropathy was suspected in eight patients. Genetic testing detected ATTR and gelsolin mutation in one each of tested patients. Nerve biopsies revealed characteristic birefringent amyloid deposits stained mahogany brown by Congo red predominantly surrounding endoneurial microvessels (34.5%), also in perineurium and epineurium in 25.45% cases. Preferential loss of small diameter myelinated fibers was noted. Axonal degeneration or regeneration was conspicuously absent.
CONCLUSION
CONCLUSIONS
Amyloid neuropathy is uncommon (0.28% of nerve biopsies in our series). Nerve biopsy is essential for the diagnosis. We report our experience of amyloid neuropathy and underscore the importance of making an assiduous search for amyloid deposits in the appropriate setting. Awareness of this entity is important for early diagnosis in the light of emerging therapeutic advances.
Identifiants
pubmed: 39041979
doi: 10.4103/neuroindia.NI_303_21
pii: 02223311-202405000-00022
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
597-602Informations de copyright
Copyright © 2024 Copyright: © 2024 Neurology India, Neurological Society of India.
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