ArticleAnnals of clinical and translational neurology2023
Amyloid detection and typing yield of skin biopsy in systemic amyloidosis and polyneuropathy.
Article in Annals of clinical and translational neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 12 citations in OpenAlex.
- Structure of ATTRv-F64S fibrils isolated from skin tissue of a living patient.Nature communications · 2025Article
- The Role of Skin Innervation for Assessment of Neurological Involvement in Disorders: A Review.Brain sciences · 2025Review
- Polyneuropathy in hereditary and wildtype transthyretin amyloidosis, comparison of key clinical features and red flags.Scientific reports · 2025Article
- Skin Biopsy as a Diagnostic Tool for ATTRv Amyloid Neuropathy in the UK.Journal of the peripheral nervous system : JPNS · 2025Article
- Article
- Digestive Amyloidosis Trends: Clinical, Pathological, and Imaging Characteristics.Biomedicines · 2024Review
- Epidemiological Changes in Transthyretin Cardiac Amyloidosis: Evidence from In Vivo Data and Autoptic Series.Journal of clinical medicine · 2024Review
- Cardiovascular autonomic failure in hereditary transthyretin amyloidosis and TTR carriers is an early and progressive disease marker.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2024Article
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
Abstract
objectiveDisease-modifying therapies are available for amyloidosis but are ineffective if end-organ damage is severe. As small fiber neuropathy is an early and common feature of amyloidosis, we assessed detection and typing yield of skin biopsy for amyloid in patients with confirmed systemic amyloidosis and neuropathic symptoms.
methodsIn this case-control study, patients with transthyretin and light chain amyloidosis (ATTRv, ATTRwt, and AL) were consecutively recruited. They were sex and age-matched to three control groups (1) non-neuropathic controls (NNC), (2) monoclonal gammopathy of undetermined significance (MGUS), and (3) other neuropathic disease controls (ONC). Patients underwent a double 3 mm skin biopsy in proximal and distal leg. Amyloid index and burden, protein typing by immuno-electron microscopy, intraepidermal nerve fiber density, electroneuromyography, and clinical characteristics were analyzed.
resultsWe studied 15 subjects with confirmed systemic amyloidosis, 20 NNC, 18 MGUS, and 20 ONC. Amyloid was detected in 100% of patients with amyloidosis (87% in ankle and 73% in thigh). It was not detected in any of the control groups. A small fiber neuropathy was encountered in 100% of amyloidosis patients, in 80% of MGUS, and in 78% of ONC. Amyloid burden was higher in ATTRv, followed by AL and ATTRwt. The ultrastructural examination allowed the identification of the precursor protein by immunotyping in most of the cases.
interpretationSkin biopsy is a minimally invasive test with optimal sensitivity for amyloid. It allows amyloid typing by electron microscope to identify the precursor protein. The diagnostic work up of systemic amyloidosis should include a skin biopsy.
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