Clinical Neuropathology practice guide 3-2014: Combined nerve and muscle biopsy in the diagnostic workup of neuropathy – the Bordeaux experience

Abstract

Simultaneous combined superficial peroneal nerve and peroneous brevis muscle biopsy, via the same cutaneous incision, allows examination of several tissue specimens and significantly improves the diagnosis of systemic diseases with peripheral nerve involvement. Vasculitides are certainly the most frequently diagnosed on neuro-muscular biopsies, but this procedure is also well advised to asses a diagnosis of sarcoidosis or amyloidosis. More occasionally, combined nerve and muscle biopsy may reveal an unpredicted diagnosis of cholesterol embolism, intra-vascular lymphoma, or enables complementary diagnosis investigations on mitochondrial cytopathy or storage disease.

Nerve biopsy: Current indications and decision tools

“…Sural nerve biopsy is about 80% sensitive 57,58 for detecting TTR amyloid and can establish amyloidosis as the cause for neuropathy. Concomitant muscle biopsy may increase the diagnostic yield 59,60 . Liver transplantation and therapies such as tafamidis, patisaran, and inotersen have been shown to reduce disease progression hence the importance of early (even pre‐symptomatic) diagnosis to preserve functional status 61‐63 .…”

“…Concomitant muscle biopsy may increase the diagnostic yield. 59 , 60 Liver transplantation and therapies such as tafamidis, patisaran, and inotersen have been shown to reduce disease progression hence the importance of early (even pre‐symptomatic) diagnosis to preserve functional status. 61 , 62 , 63 However, abnormalities on sural nerve biopsy may be a late manifestation.…”

“…Apart from vasculitic neuropathy and neuropathy associated with amyloidosis and sarcoidosis, concomitant nerve‐muscle biopsy can occasionally help to diagnose cholesterol embolism, 161 intra‐vascular lymphoma 162 and mitochondrial disorders. 59 …”

“…Apart from vasculitic neuropathy and neuropathy associated with amyloidosis and sarcoidosis, concomitant nerve-muscle biopsy can occasionally help to diagnose cholesterol embolism, 161 intra-vascular lymphoma 162 and mitochondrial disorders. 59 With regards to appropriate nerve selection, identification of a focal lesion should ideally lead to a targeted biopsy of the lesion. Preference for the most clinically affected nerve needs to be balanced against the chance that severely affected nerves may have no residual nerve fiber to analyze.…”

The utility of nerve biopsy in carefully selected patients in modern neuromuscular practice

“…Muscle biopsy can be performed at the same time as nerve biopsy and be complementary in pathologies with nerve and muscle involvement, such as sarcoidosis, amyloidosis or systemic vasculitis, intravascular lymphoma, and mitochondrial disorders. 11 Some centers combine superficial fibular nerve biopsy with the peroneus brevis muscle in the evaluation of vasculitis, as some studies have pointed to slightly increased sensitivity of this combination over sural biopsy alone, although a comparison has never been formally undertaken in a randomized, controlled trial. 6 For pathologies associated with cutaneous lesions, such as leprosy, sarcoidosis, cutaneous vasculitis (as can be seen in systemic vasculitis), and amyloidosis, skin biopsy in association with dermatologic evaluation can be useful.…”