Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on medication adherence

LIVE: Thursday 27th June 2024, 18:00-19:30 (CEST)
Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
ADVANCED SEARCH
Log in
Top
BMC Musculoskeletal Disorders
Published in: BMC Musculoskeletal Disorders 1/2024

Open Access 01-12-2024 | Myopathy | Research

Pathological findings with vacuoles in anti-mitochondrial antibody-positive inflammatory myopathy

Authors: Yuanchong Chen, Wei Zhang, He Lv, Zhaoxia Wang, Hongjun Hao, Yun Yuan, Yiming Zheng

Published in: BMC Musculoskeletal Disorders | Issue 1/2024

Login to get access

Abstract

Background

A few patients with inflammatory myopathy showed anti-mitochondrial antibody (AMA) positivity. This study aimed to report the clinical and pathological findings with vacuoles in 3 cases of such patients.

Methods

Three cases with myositis from the Myositis Clinical Database of Peking University First Hospital were identified with AMA positivity. Their clinical records were retrospectively reviewed and the data was extracted. All the 3 cases underwent muscle biopsy.

Results

Three middle-aged patients presented with chronic-onset weakness of proximal limbs, marked elevation of creatine kinase, and AMA-positivity. Two of the 3 cases meet the criteria of primary biliary cholangitis. All the 3 cases presented with cardiac involvement and proteinuria. Two cases developed type 2 respiratory failure. MRI of the thigh muscle showed multiple patches of edema bilaterally in both cases, mostly in the adductor magnus. Pathological findings include degeneration of muscle fibers, diffused MHC-I positivity, and complement deposits on cell membranes. Vacuoles without rims of different sizes were discovered under the membrane of the muscle fibers. A few RBFs were discovered in case 1, while a diffused proliferation of endomysium and perimysium was shown in case 2.

Conclusions

AMA-positive inflammatory myopathy is a disease that could affect multiple systems. Apart from inflammatory changes, the pathological findings of muscle can also present vacuoles.
Appendix
Available only for authorised users
Literature
1.
Maeda MH, Tsuji S, Shimizu J. Inflammatory myopathies associated with anti-mitochondrial antibodies. Brain. 2012;135(Pt 6):1767–77.CrossRefPubMed
2.
Mauhin W, Mariampillai K, Allenbach Y, Charuel JL, Musset L, Benveniste O. Anti-mitochondrial antibodies are not a hallmark of severity in idiopathic inflammatory myopathies. Joint Bone Spine. 2018;85(3):375–6.CrossRefPubMed
3.
Uhl GS, Baldwin JL, Arnett FC. Primary biliary cirrhosis in systrmic sclerosis (scleroderma) and polymyositis. Johns Hopkins Med J. 1974;135(3):191–8.PubMed
4.
Hou Y, Liu M, Luo YB, Sun Y, Shao K, Dai T, et al. Idiopathic inflammatory myopathies with anti-mitochondrial antibodies: clinical features and treatment outcomes in a chinese cohort. Neuromuscul Disord. 2019;29(1):5–13.CrossRefPubMed
5.
Tanaka S, Nakamura H, Tanimura S, Horita T. Antimitochondrial antibody-associated myopathy with pulmonary hypertension due to left heart disease. Rheumatology (Oxford). 2020;59(7):1770–2.CrossRefPubMed
6.
Uenaka T, Kowa H, Ohtsuka Y, Seki T, Sekiguchi K, Kanda F, et al. Less limb muscle involvement in Myositis patients with anti-mitochondrial antibodies. Eur Neurol. 2017;78(5–6):290–5.CrossRefPubMed
7.
Shimizu H, Nishino I, Ueda T, Kohara N, Nishioka H. Anti-mitochondrial antibody-associated myositis with eosinophilia and dropped head. eNeurologicalSci. 2018;11:15–6.CrossRefPubMedPubMedCentral
8.
Uenaka T, Kowa H, Sekiguchi K, Nagata K, Ohtsuka Y, Kanda F, et al. Myositis with antimitochondrial antibodies diagnosed by rectus abdominis muscle biopsy. Muscle Nerve. 2013;47(5):766–8.CrossRefPubMed
9.
Liu Y, Fang L, Chen W, Zhu Y, Lin X, Wang Y, et al. Identification of characteristics of overt myocarditis in adult patients with idiopathic inflammatory myopathies. Cardiovasc Diagn Ther. 2020;10(3):405–20.CrossRefPubMedPubMedCentral
10.
Yamanaka T, Fukatsu T, Ichinohe Y, Hirata Y. Antimitochondrial antibodies-positive myositis accompanied by cardiac involvement. BMJ Case Rep. 2017;2017.
11.
Konishi H, Fukuzawa K, Mori S, Satomi-Kobayashi S, Kiuchi K, Suzuki A, et al. Anti-mitochondrial M2 antibodies enhance the risk of supraventricular arrhythmias in patients with elevated hepatobiliary enzyme levels. Intern Med. 2017;56(14):1771–9.CrossRefPubMedPubMedCentral
12.
Otto A, Stähle I, Klein R, Berg PA, Pankuweit S, Brandsch R. Anti-mitochondrial antibodies in patients with dilated cardiomyopathy (anti-M7) are directed against flavoenzymes with covalently bound FAD. Clin Exp Immunol. 1998;111(3):541–7.CrossRefPubMedPubMedCentral
13.
Bian S, Chen H, Wang L, Fei Y, Yang Y, Peng L, et al. Cardiac involvement in patients with primary biliary cholangitis: a 14-year longitudinal survey-based study. PLoS ONE. 2018;13(3):e0194397.CrossRefPubMedPubMedCentral
14.
Nagai A, Nagai T, Yaguchi H, Fujii S, Uwatoko H, Shirai S, et al. Clinical features of anti-mitochondrial M2 antibody-positive myositis: case series of 17 patients. J Neurol Sci. 2022;442:120391.CrossRefPubMed
15.
Yen TH, Lai PC, Chen CC, Hsueh S, Huang JY. Renal involvement in patients with polymyositis and dermatomyositis. Int J Clin Pract. 2005;59(2):188–93.CrossRefPubMed
16.
Couvrat-Desvergnes G, Masseau A, Benveniste O, Bruel A, Hervier B, Mussini JM, et al. The spectrum of renal involvement in patients with inflammatory myopathies. Med (Baltim). 2014;93(1):33–41.CrossRef
17.
Kissel JT, Mendell JR, Rammohan KW. Microvascular deposition of complement membrane attack complex in dermatomyositis. N Engl J Med. 1986;314(6):329–34.CrossRefPubMed
18.
Bladé J, Montserrat E, Bruguera M, Aranalde J, Grañena A, Cervantes F, et al. Multiple myeloma in primary biliary cirrhosis. Scand J Haematol. 1981;26(1):14–8.CrossRefPubMed
19.
Kaneko H, Endo T, Saitoh H, Katsuta Y, Aramaki T, Hayakawa H. Primary biliary cirrhosis associated with multiple myeloma. Intern Med. 1993;32(10):802–5.CrossRefPubMed
20.
Akashi Y, Yoshizawa N, Kubota T, Oshikawa Y, Oda T, Ishida A, et al. Primary biliary cirrhosis complicated with Sjögren syndrome and multiple myeloma. A case report. Nephron. 1996;73(4):730–2.CrossRefPubMed
21.
Rodríguez-Leal GA, Moran-Villota S, Arista-Nasr J, Uribe-Esquivel M. Case report of multiple myeloma and hypothyroidism in primary biliary cirrhosis. Rev Invest Clin. 1997;49(3):215–20.PubMed
22.
Saka B, Kalayoglu-Besisik S, Ozturk GB, Dogan O, Erten N. Primary biliary cirrhosis and IgG-kappa type multiple myeloma both respond well to vincristine, adriamycin and dexamethasone: is there a pathogenic relationship? J Formos Med Assoc. 2008;107(2):185–90.CrossRefPubMed
23.
Iliffe GD, Naidoo S, Hunter T. Primary biliary cirrhosis associated with features of systemic lupus erythematosus. Dig Dis Sci. 1982;27(3):274–8.CrossRefPubMed
24.
Nachbar F, Korting HC, Hoffmann RM, Kollmann M, Meurer M. Unusual coexistence of systemic lupus erythematosus and primary biliary cirrhosis. Dermatology. 1994;188(4):313–7.CrossRefPubMed
25.
Islam S, Riordan JW, McDonald JA. Case report: a rare association of primary biliary cirrhosis and systemic lupus erythematosus and review of the literature. J Gastroenterol Hepatol. 1999;14(5):431–5.CrossRefPubMed
26.
Shizuma T. Clinical characteristics of concomitant systemic lupus erythematosus and primary biliary cirrhosis: a Literature Review. J Immunol Res. 2015;2015:713728.CrossRefPubMedPubMedCentral
27.
Minamiyama S, Ueda S, Nakashima R, Yamakado H, Sakato Y, Yamashita H, et al. Thigh muscle MRI findings in myopathy associated with anti-mitochondrial antibody. Muscle Nerve. 2020;61(1):81–7.CrossRefPubMed
28.
Gauthier GF. On the relationship of ultrastructural and cytochemical features of color in mammalian skeletal muscle. Z Zellforsch Mikrosk Anat. 1969;95(3):462–82.CrossRefPubMed
29.
Shimazaki R, Uruha A, Kimura H, Nagaoka U, Kawazoe T, Yamashita S, et al. Rimmed vacuoles in Myositis Associated with antimitochondrial antibody. J Clin Neurol. 2020;16(3):510–2.CrossRefPubMedPubMedCentral
30.
Albayda J, Khan A, Casciola-Rosen L, Corse AM, Paik JJ, Christopher-Stine L. Inflammatory myopathy associated with anti-mitochondrial antibodies: a distinct phenotype with cardiac involvement. Semin Arthritis Rheum. 2018;47(4):552–6.CrossRefPubMed
31.
Malicdan MC, Noguchi S, Nishino I. Autophagy in a mouse model of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Autophagy. 2007;3(4):396–8.CrossRefPubMed
32.
Momma K, Noguchi S, Malicdan MC, Hayashi YK, Minami N, Kamakura K, et al. Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies. PLoS ONE. 2012;7(12):e52002.CrossRefPubMedPubMedCentral
33.
Liu C, Zhang W, Wang Z, Yuan Y. Vacuoles in muscle fiber: pathological differences in various diseases. Chin J Neurol. 2022;55(11):1317–24.
34.
Tanboon J, Inoue M, Saito Y, Tachimori H, Hayashi S, Noguchi S, et al. Dermatomyositis: muscle Pathology according to antibody subtypes. Neurology. 2022;98(7):e739–e49.CrossRefPubMedPubMedCentral
Metadata
Title
Pathological findings with vacuoles in anti-mitochondrial antibody-positive inflammatory myopathy
Authors
Yuanchong Chen
Wei Zhang
He Lv
Zhaoxia Wang
Hongjun Hao
Yun Yuan
Yiming Zheng
Publication date
01-12-2024
Publisher
BioMed Central
Published in
BMC Musculoskeletal Disorders / Issue 1/2024
Electronic ISSN: 1471-2474
DOI
https://doi.org/10.1186/s12891-023-06941-6

Other articles of this Issue 1/2024

BMC Musculoskeletal Disorders 1/2024 Go to the issue

Research

Bone reconstruction with modified Masquelet technique in open distal femoral fractures: a case series

Research

Effects of sustained natural apophyseal glides versus rocabado 6 × 6 program in subjects with cervicogenic headache

Research

Aspirin is as effective as low molecular weight heparins in preventing symptomatic venous thromboembolism following arthroscopic anterior cruciate ligament reconstruction

Research

Genetic causal association between frozen shoulder and carpal tunnel syndrome: a two-sample mendelian randomization

Research

Comparison of a novel hand-held retractor-assisted transforaminal lumbar interbody fusion by the wiltse approach and posterior TLIF: a one-year prospective controlled study

Research

A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report