Sporadic inclusion body myositis

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The inclusion body myositis ( sporadic inclusion body myositis ; sIBM) belongs to the group of inflammatory muscle diseases. The term " Inclusion Body Myositis " was coined in 1971. However, as early as 1967 in the muscle tissue of a patient with polymyositis, IBM-like changes were described at a suitable clinic. In addition to the sporadic form (sIBM), there is also a hereditary variant (hIBM), which is a non-inflammatory muscle disease.

Epidemiology, symptoms and course

The incidence of sIBM is estimated at 4.3 to 14.9 per million. In patients older than 50 years, however, it increases to as high as 51.3 per million. The average age of onset is around 55 years of age, but there are also cases in which the disease manifests itself around the age of 30 or 80. Around three quarters of those affected are male. SIBM is a chronically progressive , inflammatory muscle disease that leads to muscle weakness and muscle wasting of muscles near and away from the trunk. At the beginning of the disease, the quadriceps femoris muscle and the deep flexors of the fingers are often involved, which means that patients fall very easily and can no longer perform fine motor activities. The muscle weakness increases over time, so that within a few years the patient is bound to a wheelchair. In many cases, swallowing difficulties arise due to the involvement of the swallowing muscles.

Histopathology

Typical myopathic changes are found in the muscles of sIBM patients, including fiber caliber variations, central nuclei and connective tissue remodeling. Other characteristics include inclusion bodies and vacuoles within the muscle fibers. In particular, there is an accumulation of degenerative molecules such as beta-amyloid known from Alzheimer's disease . In addition to these degenerative fibers, there are also regenerative fibers. Inflammatory infiltrates often occur, which are mainly cytotoxic T cells that rearrange morphologically normal muscle fibers. A small percentage of the fibers are necrotic .

Pathogenesis

The cause and development of sIBM is complex and has not yet been fully clarified or understood. Inflammatory , degenerative and cell stress-associated pathomechanisms are currently being discussed. Recent studies have confirmed the assumption of a connection between inflammation and degeneration and between degeneration and cell stress. However, the exact mechanisms behind this have still not been adequately clarified. A connection with autophagic processes is also suspected.

Diagnosis

The diagnosis of sIBM is very comprehensive, which is why there are often delays in making and confirming the diagnosis. Current criteria include a detailed doctor-patient discussion and a thorough medical examination. Blood tests are also done to determine the amount of certain proteins such as creatine kinase . The function of nerves and muscles are examined using electrophysiological methods. A muscle sample is also taken for histological assessment.

therapy

To date, there is no effective therapy that cures the disease. Due to the presence of inflammatory infiltrates in the sIBM muscle, immunosuppressive or immunomodulatory drugs have been tested in numerous studies over the past few years. In individual cases, the progress of the disease could be stopped with immunoglobulins . The administration of the glucocorticoid prednisolone , the folic acid analogue methotrexate or the glycoprotein interferon- β1a known from multiple sclerosis therapy proved to be ineffective in the treatment of IBM. However, some successes could be achieved. Studies from 2009 showed that the monoclonal antibody alemtuzumab (CAMPATH 1-H), which causes a reduction in peripheral lymphocytes in the blood, led to a temporary slowdown in disease progression. However, its use is limited due to side effects. The suppression of β-amyloid aggregate formation is the subject of scientific research. In addition to drug therapy, supportive measures are used, in particular targeted physiotherapy .

Individual evidence

  1. ^ EJ Yunis, FJ Samaha: Inclusion body myositis. In: Lab Invest . 1971 Sep; 25 (3), pp. 240-248. PMID 5095321
  2. ↑ SM Chou: Myxovirus-like structures in a case of human chronic polymyositis. In: Science . 1967 Dec 15; 158 (807), pp. 1453-1455. PMID 6058682
  3. ^ S. Mitrani-Rosenbaum, Z. Argov, A. Blumenfeld, CE Seidman, JG Seidman: Hereditary inclusion body myopathy maps to chromosome 9p1-q1. In: Hum Mol Genet . 1996 Jan; 5 (1), pp. 159-163. PMID 8789455
  4. ↑ UA Badrising, M. Maat-Schieman, SG van Duinen, F. Breedveld, P. van Doorn, B. van Engelen, F. van den Hoogen, J. Hoogendijk, C. Höweler, A. de Jager include: Epidemiology of inclusion body myositis in the Netherlands: a nationwide study. In: Neurology. 2000 Nov 14; 55 (9), pp. 1385-1387. PMID 11087787
  5. ^ M Needham, A. Corbett, T. Day, F. Christiansen, V. Fabian, FL Mastaglia: Prevalence of sporadic inclusion body myositis and factors contributing to delayed diagnosis. In: J Clin Neurosci. 2008 Dec; 15 (12), pp. 1350-1353. PMID 18815046
  6. ^ A. Peng, BM Koffman, JD Malley, MC Dalakas: Disease progression in sporadic inclusion body myositis: observations in 78 patients. In: Neurology. 2000 Jul 25; 55 (2), pp. 296-298. PMID 10908910
  7. ^ S. Carpenter, G. Karpati, I. Heller, A. Eisen: Inclusion body myositis: a distinct variety of idiopathic inflammatory myopathy. In: Neurology. 1978 Jan; 28 (1), pp. 8-17. PMID 201886 .
  8. ↑ S. Arnardottir, K. Borg, T. Ansved: Sporadic inclusion body myositis: morphology, regeneration, and cytoskeletal structure of muscle fibers. In: J Neurol Neurosurg Psychiatry. 2004 Jun; 75 (6), pp. 917-920. PMID 15146016
  9. ↑ K. Arahata, AG Engel: Monoclonal antibody analysis of mononuclear cells in myopathies. I: Quantitation of subsets according to diagnosis and sites of accumulation and demonstration and counts of muscle fibers invaded by T cells. In: Ann Neurol. 1984, Aug; 16 (2), pp. 193-208. PMID 6383191
  10. ↑ AM Emslie-Smith, K. Arahata, AG Engel: Major histocompatibility complex class I antigen expression, immunolocalization of interferon subtypes, and T cell-mediated cytotoxicity in myopathies. In: Hum Pathol . 1989 Mar; 20 (3), pp. 224-231. PMID 2970663
  11. ^ S. Wojcik, WK Engel, J. McFerrin, O. Paciello, V. Askanas: AbetaPP overexpression and proteasome inhibition increase alphaB-crystallin in cultured human muscle: relevance to inclusion-body myositis. In: Neuromuscul Disord. 2006 Dec; 16 (12), pp. 839-844. PMID 17056255
  12. ↑ BL Banwell, AG Engel: AlphaB-crystallin immunolocalization yields new insights into inclusion body myositis. In: Neurology. 2000 Mar 14; 54 (5), pp. 1033-1041. PMID 10720271
  13. Jump up ↑ J. Schmidt, K. Barthel, A. Wrede, M. Salajegheh, M. Bähr, MC Dalakas: Interrelation of inflammation and APP in sIBM: IL-1 beta induces accumulation of betaamyloid in skeletal muscle. In: Brain. 2008 May; 131 (Pt 5), pp. 1228-1240. PMID 18420712
  14. ↑ IE Muth, K. Barthel, M. Bähr, MC Dalakas, J. Schmidt: Pro-inflammatory cell stress in sIBM muscle: overexpression of {alpha} B-crystallin is associated with APP and accumulation of {beta} -amyloid. In: J Neurol Neurosurg Psychiatry. 2009 Dec; 80 (12), pp. 1344-1349. Epub 2009 May 25. PMID 19470495
  15. ↑ JD Lünemann, J. Schmidt, D. Schmid, K. Barthel, A. Wrede, MC Dalakas, C. Münz: Beta-amyloid is a substrate of autophagy in sporadic inclusion body myositis. In: Ann Neurol. 2007 May; 61 (5), pp. 476-483. PMID 17469125
  16. ↑ RC Griggs, V. Askanas, S. DiMauro, A. Engel, G. Karpati, JR Mendell, LP Rowland: Inclusion body myositis and myopathies. In: Ann Neurol. 1995 Nov; 38 (5), pp. 705-713. Review. PMID 7486861
  17. ^ RC Griggs: The current status of treatment for inclusion-body myositis. In: Neurology. 2006 Jan 24; 66 (2 Suppl 1), pp. S30-S2. Review. PMID 16432142 .
  18. ↑ MC Walter, H. Lochmüller, M. Toepfer, B. Schlotter, P. Reilich, M. Schröder, W. Müller-Felber, D. Pongratz: High-dose immunoglobulin therapy in sporadic inclusion body myositis: a double-blind, placebo-controlled study. In: J Neurol. 2000 Jan; 247 (1), pp. 22-28. PMID 10701893 .
  19. ↑ RJ Barohn, AA Amato, Z. Sahenk, JT Kissel, JR Mendell: Inclusion body myositis: explanation for poor response to immunosuppressive therapy. In: Neurology. 1995 Jul; 45 (7), pp. 1302-1304. PMID 7617187
  20. ↑ UA Badrising, ML Maat-Schieman, MD Ferrari, AH Zwinderman, JA Wessels, FC Breedveld, PA van Doorn, BG van Engelen, JE Hoogendijk and others: Comparison of weakness progression in inclusion body myositis during treatment with methotrexate or placebo In: Ann Neurol. 2002 Mar; 51 (3), pp. 369-372. PMID 11891832 .
  21. ↑ Muscle Study Group: Randomized pilot trial of high-dose betaINF-1a in patients with inclusion body myositis. In: Neurology. 2004 Aug 24; 63 (4), pp. 718-720. PMID 15326251
  22. ↑ MC Dalakas, G. Rakocevic, J. Schmidt, M. Salajegheh, B. McElroy, MO Harris-Love, JA Shrader, EW Levy, J. Dambrosia, RL Kampen et al .: Effect of alemtuzumab (CAMPATH 1-H) in patients with inclusion-body myositis. In: Brain. 2009 Jun; 132 (Pt6), pp. 1536-1544. PMID 19454532
  23. ↑ S. Arnardottir, H. Alexanderson, IE Lundberg, K. Borg: Sporadic inclusion body myositis: pilot study on the effects of a home exercise program on muscle function, histopathology and inflammatory reaction. In: J Rehabil Med. 2003 Jan; 35 (1), pp. 31-35. PMID 12610846