Muscle biopsy practices in the evaluation of neuromuscular disease: A systematic literature review

Abstract

Aims Muscle biopsy techniques range from needle muscle biopsy (NMB) and conchotome biopsy to open surgical biopsy. It is unknown whether specific biopsy techniques offer superior diagnostic yield or differ in procedural complication rates. Therefore, we aimed to compare the diagnostic utility of NMB, conchotome and open muscle biopsies in the assessment of neuromuscular disorders. Methods A systematic literature review of the EMBASE and Medline (Ovid) databases was performed to identify original, full‐length research articles that described the muscle biopsy technique used to diagnose neuromuscular disease in both adult and paediatric patient populations. Studies of any design, excluding case reports, were eligible for inclusion. Data pertaining to biopsy technique, biopsy yield and procedural complications were extracted. Results Sixty‐four studies reporting the yield of a specific muscle biopsy technique and, or procedural complications were identified. Open surgical biopsies provided a larger tissue sample than any type of percutaneous muscle biopsy. Where anaesthetic details were reported, general anaesthesia was required in 60% of studies that reported open surgical biopsies. Percutaneous biopsies were most commonly performed under local anaesthesia and despite the smaller tissue yield, moderate‐ to large‐gauge needle and conchotome muscle biopsies had an equivalent diagnostic utility to that of open surgical muscle biopsy. All types of muscle biopsy procedures were well tolerated with few adverse events and no scarring complications were reported with percutaneous sampling. Conclusions When a histological diagnosis of myopathy is required, moderate‐ to large‐gauge NMB and the conchotome technique appear to have an equivalent diagnostic yield to that of an open surgical biopsy.

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“…53 In a recent meta-analysis of muscle biopsy practices for the evaluation of neuromuscular disease, percutaneous biopsies using either large-gauge needle or conchotome, performed mostly under local anesthesia, had an equivalent diagnostic utility to that of open surgical muscle biopsy despite the smaller tissue yield. 54 Although not quite a "bedside" procedure (Fig. 4), as performed by one of us (R.W.I.…”

“…The percutaneous procedure can avoid the cost, wait, and morbidity of open biopsy performed by a surgeon and can sample multiple sites at the same setting 53 . In a recent meta-analysis of muscle biopsy practices for the evaluation of neuromuscular disease, percutaneous biopsies using either large-gauge needle or conchotome, performed mostly under local anesthesia, had an equivalent diagnostic utility to that of open surgical muscle biopsy despite the smaller tissue yield 54 . Although not quite a “bedside” procedure (Fig.…”