Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2025 Jul 4;26(1):615.
doi: 10.1186/s12891-025-08847-x.

Vacuolar myopathy associated with lambda light chain myeloma: a case report and review of the literature

Quentin de Berny  1 , Valéry Salle  2 , Cédric Renard  3 , Philippe-Edouard Merle  4 , Nelly Guilain  5 , Gabriel Choukroun  6   7 , Pierre Morel  8 , Ophélie Fourdinier  6
Affiliations
Review

Vacuolar myopathy associated with lambda light chain myeloma: a case report and review of the literature

Quentin de Berny et al. BMC Musculoskelet Disord. .

Abstract

Background: Vacuolar myopathy is a muscle disease characterized by inefficient autophagy and the accumulation of intracytoplasmic degradation products in autophagic vacuoles. Acquired vacuolar myopathy associated with monoclonal gammopathy is a novel clinical entity first described in 2019. The objective of the present article is to describe the first case of an acquired vacuolar myopathy associated with lambda light chain myeloma.

Case presentation: A 52-year-old man was admitted to our nephrology department for acute kidney injury and was diagnosed with lambda light chain multiple myeloma. The patient presented with supraventricular arrythmia and developed rapidly progressing muscle weakness of the face and all four limbs, with a myogenic electromyographic pattern. A muscle biopsy highlighted muscle fibre vacuoles and lambda light chain deposits. Cardiac magnetic resonance imaging revealed concentric hypertrophy and subepicardial areas of fibrosis that were suggestive of an infiltrative disease. There were no signs of amyloidosis. Treatment with a combination of bortezomib, lenalidomide and dexamethasone gave a good hematologic response, and the patient recovered near-normal levels of muscle strength in the following six months. The number of episodes of arrythmia decreased.

Conclusion: Clinicians should be aware that lambda light chain myeloma may cause lambda light-chain deposits within muscle fibres and vacuolar myopathy. A corticosteroid-sparing strategy for vacuolar myopathy does not appear to be necessary when the course of the myeloma is favourable. Myopathy associated with monoclonal gammopathy is an emerging entity. Given that monoclonal gammopathy is very common in older adults, the appearance of muscle impairments in this context could prompt the physician to consider the initiation of corticosteroids, immunosuppressive agents, or intravenous immunoglobulins. Electromyography and muscle biopsy results can guide the diagnosis.

Keywords: Case report; Lambda-light chain; Monoclonal gammopathy; Myeloma; Vacuolar myopathy.

PubMed Disclaimer

Conflict of interest statement

Declarations. Ethics approval and consent to participate: In line with the French legislation on non-interventional studies of routine clinical practice, the study protocol was approved by a hospital committee (Amiens University Hospital, Amiens, France) with competency for research not requiring authorization by an institutional review board (reference: PI2023_843_0180). Consent for publication: Given that the patient died, his wife provided written informed consent for the publication of this case report. Competing interests: The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Histopathology of a biopsy of the right deltoid muscle. The histopathologic assessment of the right deltoid muscle showed irregular, atrophic muscle fibres and small, apparently empty vacuoles under the light microscope (→) after hematein-eosin staining (magnification: × 10) (A). Immunofluorescence microscopy revealed diffuse, linear LLC deposits on the periphery of the muscle fibres (→) (magnification: × 10) (B)
Fig. 2
Fig. 2
Cardiac magnetic resonance imaging. A Cine-MRI with a four-chamber view: hypertrophy of the left ventricle and both atria. B Late gadolinium enhancement with a short-axis view: note the presence of foci of subepicardial fibrosis at the interventricular septum (at right ventricle insertion points). C Native T1 mapping: the normal T1 values in the thickened left ventricular myocardium were not suggestive of cardiac amyloidosis
See this image and copyright information in PMC

References

    1. Mair D, Biskup S, Kress W, et al. Differential diagnosis of vacuolar myopathies in the NGS era. Brain Pathol. 2020:bpa.12864. 10.1111/bpa.12864. - PMC - PubMed
    1. Khosa S, Khanlou N, Khosa GS, Mishra SK. Hydroxychloroquine-induced autophagic vacuolar myopathy with mitochondrial abnormalities. Neuropathology. 2018;38(6):646–52. 10.1111/neup.12520. - PubMed
    1. Fernadez C, Figarella-Branger D, Alla P, Harle JR, Pellissier JF. Colchicine myopathy: a vacuolar myopathy with selective type I muscle fiber involvement. Acta Neuropathol. 2002;103(2):100–6. 10.1007/s004010100434. - PubMed
    1. Allenbach Y, Salort-Campana E, Malfatti E, et al. P.09Vacuolar myopathy with monoclonal gammopathy and stiffness (VAMGS). Neuromuscul Disord. 2019;29:S44. 10.1016/j.nmd.2019.06.038.
    1. Soontrapa P, Tracy JA, Gonsalves WI, Liewluck T. Treatment-responsive glycogen storage myopathy in a patient with POEMS syndrome: a new monoclonal gammopathy-associated myopathy. Eur J Neurol. 2023. 10.1111/ene.16008. - PubMed

MeSH terms

Supplementary concepts

LinkOut - more resources