Skin amyloid deposits and nerve fiber loss as markers of neuropathy onset and progression in hereditary transthyretin amyloidosis.

Amyloid Neuropathies, Familial / complications Biomarkers Humans Nerve Fibers / pathology Plaque, Amyloid Retrospective Studies
amyloid deposition biomarkers hereditary transthyretin amyloidosis polyneuropathy skin biopsy small fiber loss

Journal

European journal of neurology
ISSN: 1468-1331
Titre abrégé: Eur J Neurol
Pays: England
ID NLM: 9506311

Informations de publication

Date de publication:
05 2022
Historique:
received: 20 11 2021
accepted: 27 01 2022
pubmed: 1 2 2022
medline: 13 4 2022
entrez: 31 1 2022
Statut: ppublish

Résumé

This study was undertaken to assess skin biopsy as a marker of disease onset and severity in hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN), a treatable disease. In this single center retrospective study, skin Congo red staining and intraepidermal nerve fiber density (IENFD) were evaluated in symptomatic ATTRv-PN patients and asymptomatic TTR gene mutation carriers between 2012 and 2019. Non-ATTRv subjects with suspected small fiber neuropathy who underwent skin biopsy during the same timespan were used as controls. One hundred eighty-three symptomatic ATTRv-PN patients, 36 asymptomatic carriers, and 537 non-ATTRv patients were included. Skin biopsy demonstrated amyloid depositions in 80% of the 183 symptomatic cases. Skin amyloid deposits were found in 75% of early stage ATTRv-PN patients, and in 14% of asymptomatic carriers. All 183 symptomatic and 34 of 36 asymptomatic patients displayed decreased ankle IENFD with a proximal-distal gradient distribution, and reduced IEFND correlated with disease severity and duration. Our study demonstrates skin amyloid deposits are a marker of ATTRv-PN disease onset, and decreased IENFD a marker of disease progression. These results are of major importance for the early identification of ATTRv-PN patients in need of disease-modifying treatments.

Sections du résumé

BACKGROUND AND PURPOSE
This study was undertaken to assess skin biopsy as a marker of disease onset and severity in hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN), a treatable disease.
METHODS
In this single center retrospective study, skin Congo red staining and intraepidermal nerve fiber density (IENFD) were evaluated in symptomatic ATTRv-PN patients and asymptomatic TTR gene mutation carriers between 2012 and 2019. Non-ATTRv subjects with suspected small fiber neuropathy who underwent skin biopsy during the same timespan were used as controls.
RESULTS
One hundred eighty-three symptomatic ATTRv-PN patients, 36 asymptomatic carriers, and 537 non-ATTRv patients were included. Skin biopsy demonstrated amyloid depositions in 80% of the 183 symptomatic cases. Skin amyloid deposits were found in 75% of early stage ATTRv-PN patients, and in 14% of asymptomatic carriers. All 183 symptomatic and 34 of 36 asymptomatic patients displayed decreased ankle IENFD with a proximal-distal gradient distribution, and reduced IEFND correlated with disease severity and duration.
CONCLUSIONS
Our study demonstrates skin amyloid deposits are a marker of ATTRv-PN disease onset, and decreased IENFD a marker of disease progression. These results are of major importance for the early identification of ATTRv-PN patients in need of disease-modifying treatments.

Identifiants

DOI: 10.1111/ene.15268 PMID: 35100482
pubmed: 35100482
doi: 10.1111/ene.15268
doi:

Substances chimiques

Biomarkers 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1477-1487

Informations de copyright

© 2022 European Academy of Neurology.

Références

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Auteurs

Luca Leonardi (L)

Referral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies and Department of Neurology, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin Bicêtre, France.
Department of Neuroscience, Mental Health and Sensory Organs, Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy.
ORCID: 0000-0002-1267-864X

Clovis Adam (C)

Referral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies and Department of Neurology, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin Bicêtre, France.
University Paris-Saclay, and National Institute of Health and Medical Research U1195, Le Kremlin Bicêtre, France.
Pathology Department, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin Bicêtre, France.

Guillemette Beaudonnet (G)

Referral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies and Department of Neurology, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin Bicêtre, France.
Neurophysiology and Epileptology Department, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin Bicêtre, France.

Diane Beauvais (D)

Referral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies and Department of Neurology, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin Bicêtre, France.

Cécile Cauquil (C)

Referral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies and Department of Neurology, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin Bicêtre, France.

Adeline Not (A)

Referral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies and Department of Neurology, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin Bicêtre, France.

Olivier Morassi (O)

Referral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies and Department of Neurology, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin Bicêtre, France.

Anouar Benmalek (A)

School of Pharmacy, University Paris-Saclay, Châtenay-Malabry, France.

Olivier Trassard (O)

Pathology Department, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin Bicêtre, France.

Andoni Echaniz-Laguna (A)

Referral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies and Department of Neurology, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin Bicêtre, France.
University Paris-Saclay, and National Institute of Health and Medical Research U1195, Le Kremlin Bicêtre, France.
ORCID: 0000-0003-1012-9783

David Adams (D)

Referral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies and Department of Neurology, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin Bicêtre, France.
University Paris-Saclay, and National Institute of Health and Medical Research U1195, Le Kremlin Bicêtre, France.
ORCID: 0000-0002-8722-4108

Céline Labeyrie (C)

Referral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies and Department of Neurology, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin Bicêtre, France.
University Paris-Saclay, and National Institute of Health and Medical Research U1195, Le Kremlin Bicêtre, France.
Pathology Department, Bicêtre University Hospital, Public Hospital Network of Paris, Le Kremlin Bicêtre, France.
ORCID: 0000-0001-9765-709X

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Classifications MeSH

questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Troubles de l'homéostasie des protéines › Amyloïdose › Amyloïdose familiale › Neuropathies amyloïdes familiales › Skin amyloid deposits and nerve fiber loss as...
questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Skin amyloid deposits and nerve fiber loss as...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Skin amyloid deposits and nerve fiber loss as...
questionsmedicales.fr › Cellules › Neurones › Neurofibres › Skin amyloid deposits and nerve fiber loss as...
questionsmedicales.fr › États, signes et symptômes pathologiques › États anatomopathologiques › Plaque amyloïde › Skin amyloid deposits and nerve fiber loss as...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études rétrospectives › Skin amyloid deposits and nerve fiber loss as...