Nerve biopsy: Current indications and decision tools

Abstract

After initial investigation of patients presenting with symptoms suggestive of neuropathy, a clinical decision is made for a minority of patients to undergo further assessment with nerve biopsy. Many nerve biopsies do not demonstrate a definitive pathological diagnosis and there is considerable cost and morbidity associated with the procedure. This highlights the need for appropriate selection of patients, nerves and neuropathology techniques. Additionally, concomitant muscle and skin biopsies may improve the diagnostic yield in some cases. Several advances have been made in diagnostics in recent years, particularly in genomics. The indications for nerve biopsy have consequently changed over time. This review explores the current indications for nerve biopsies and some of the issues surrounding its use. Also included are comments on alternative diagnostic modalities that may help to supplant or reduce the use of nerve biopsy as a diagnostic test. These primarily include extraneural biopsy and neuroimaging techniques such as magnetic resonance neurography and nerve ultrasound. Finally, we propose an algorithm to assist in deciding when to perform nerve biopsies.

Relevance of Nerve Biopsy in the Diagnosis of Chronic Inflammatory Demyelinating Polyneuropathy—A Systematic Review

“…Among those, there are: vasculitic neuropathies with no evidence of extraneural vasculitis and no response to immunosuppressive treatment, neurolymphomatosis which could not have otherwise been confirmed, primary nerve/nerve sheath tumors, pure neurotic leprosy, amyloid neuropathy, sarcoid peripheral neuropathy, with no evidence of extraneural involvement, IgG4-related disease/neuropathy, para-proteinemic neuropathy, hereditary neuropathy, and CIDP variants non-responsive to immunosuppressive treatment. The study also states that in a retrospective study carried out on 146 patients with definite CIDP according to EFNS/PNS 2006 criteria, supporting diagnostic elements, including nerve biopsies, were required for 25% of them [ 30 , 43 ].…”

“…In 2019, Nathani et al [ 30 ] conducted a systematic review that raises awareness regarding the appropriate circumstances in which a nerve biopsy should be performed. The article states a series of conditions in which nerve biopsy may be a diagnostic tool.…”

Follow-up assessment of patients with Pure Neural Leprosy in a reference center in Rio de Janeiro—Brazil

“…Nowadays the nerve biopsy has very few indications, nevertheless, PNL is still one of the few indications of it, as the nerve biopsy is the gold standard for PNL diagnosis and its sensitivity can be increased by PCR testing [ 13 ]. The presence of AFB in the biopsied nerve is one of the hallmarks in leprosy histopathology and makes the diagnosis of PNL almost unequivocal, but they are only present in a small percentage of the PNL patients [ 6 ].…”

Clinical and Radiological Features of Intramuscular Orbital Amyloidosis: A Case Series and Literature Review

“…A sural nerve biopsy has an 80% sensitivity for detecting peripheral amyloid neuropathy, and is useful particularly if there is clinical suspicion for hereditary amyloidosis. 39 Bone marrow biopsy and a whole-body PET scan may also be performed in the systemic work-up. 34,40,41 Fluorodeoxyglucose ( 18 F-FDG) is a common radiotracer used to identify other sites of involvement by detecting metabolic activity arising from cellular infiltrate in amyloid formation, particularly in the lymph nodes, lung, soft tissue, and heart.…”