Entzündliche Muskelerkrankungen – Aktueller Stand zur Diagnostik und Therapie der Myositis

Zusammenfassung

Bei den idiopathischen inflammatorischen Myopathien unterscheidet man die Polymyositis (PM), Dermatomyositis (DM), nekrotisierende Myopathie (NM), Einschlusskörpermyositis (inclusion body myositis = IBM) und Myositis bei Overlap-Syndrom. Es handelt es sich um eine heterogene Gruppe erworbener Muskelerkrankungen, die sich durch eine progrediente Muskelschwäche und Muskelatrophien auszeichnet. Die Abgrenzung der einzelnen Subtypen hat insbesondere im Hinblick auf die Prognose und Wahl der Therapie eine wesentliche Bedeutung. Die Identifikation muskelspezifischer Antikörper hat in den letzten Jahren die Diagnostik wesentlich vorangebracht, jedoch bleibt die Muskelbiopsie weiterhin ein unverzichtbares Hauptelement in der differentialdiagnostischen Abklärung von Myositissyndromen. Die Therapieempfehlungen basieren in Anbetracht des Mangels hochqualitativer Studien weiterhin überwiegend auf empirischen Daten und Expertenmeinungen und es sind erstmals fachübergreifende Leitlinien mit Beteiligung von Dermatologen, Rheumatologen und Neurologen entwickelt worden. Während bei der PM, DM und NM immunsuppressive Therapien zum Einsatz kommen, scheint die IBM gegenüber diesen Ansätzen weitestgehend refraktär zu sein. Hierdurch wird deutlich, dass auch die Abgrenzung zu anderen, nicht-entzündlichen Muskelerkrankungen essenziell ist. Die vorliegende Übersicht stellt den aktuellen state-of-the-art zur Diagnostik und Therapie von Myositiden dar.

Abstract

Idiopathic inflammatory myopathies include polymyositis (PM), dermatomyositis (DM), necrotizing myopathy (NM), inclusion body myositis (IBM), and myositis in overlap syndromes. This is a heterogeneous group of acquired muscle diseases characterised by progressive muscle weakness and muscular atrophy. It is crucial to differentiate between the individual subtypes, especially with a view to prognosis and choice of treatment. Although the identification of muscle-specific antibodies has significantly advanced the diagnostic process in the past few years, muscle biopsy remains an indispensable element in the differential-diagnostic workup of myositis syndromes. Due to the lack of high-quality studies, most treatment recommendations continue to be based on empirical data and expert opinions, and the first interdisciplinary guidelines have been developed jointly by dermatologists, rheumatologists and neurologists. While patients with PM, DM and NM are eligible for immunosuppressive treatment, IBM seems to be largely refractory to this approach. This illustrates that it is also essential to distinguish between myositis and other, non-inflammatory muscle diseases. The following review article presents the current state-of-the-art approach to the diagnostic workup and treatment of myositis.

Schlüsselwörter

Myositis - inflammatorische Myopathien - Dermatomyositis - Polymyositis - Overlap-Syndrom - Nekrotisierende Myopathie - Einschlusskörpermyositis

Key words

myositis - inflammatory myopathies - dermatomyositis - polymyositis - overlap syndrome - necrotizing myopathy - inclusion body myositis

• Literatur

• 1 Dalakas MC. Inflammatory muscle diseases. N Engl J Med 2015; 372: 1734-1747
• 2 Carstens P-O, Schmidt J. Diagnosis, pathogenesis and treatment of myositis: recent advances. Clin Exp Immunol 2014; 175: 349-358
• 3 Breithaupt M, Schmidt J. Inflammatorische Muskelerkrankungen: Diagnostik und Therapie von Myositiden. Neurotransmitter 2014; 12: 46-56
• 4 Bohan A, Peter JB. Polymyositis and dermatomyositis (first of two parts). N Engl J Med 1975; 292: 344-347
• 5 Bohan A, Peter JB. Polymyositis and dermatomyositis (second of two parts). N Engl J Med 1975; 292: 403-407
• 6 Targoff IN, Mamyrova G, Trieu EP et al. A novel autoantibody to a 155-kd protein is associated with dermatomyositis. Arthritis Rheum 2006; 54: 3682-3689
• 7 Sato S, Kuwana M, Fujita T et al. Anti-CADM-140/MDA5 autoantibody titer correlates with disease activity and predicts disease outcome in patients with dermatomyositis and rapidly progressive interstitial lung disease. Mod Rheumatol 2013; 23: 496-502
• 8 Mammen AL, Chung T, Christopher-Stine L et al. Autoantibodies against 3-hydroxy-3-methylglutaryl-coenzyme A reductase in patients with statin-associated autoimmune myopathy. Arthritis Rheum 2011; 63: 713-721
• 9 Pluk H, van Hoeve BJA, van Dooren SHJ et al. Autoantibodies to cytosolic 5’-nucleotidase 1A in inclusion body myositis. Ann Neurol 2013; 73: 397-407
• 10 Larman HB, Salajegheh M, Nazareno R et al. Cytosolic 5’-nucleotidase 1A autoimmunity in sporadic inclusion body myositis. Ann Neurol 2013; 73: 408-418
• 11 Adams EM, Chow CK, Premkumar A et al. The idiopathic inflammatory myopathies: spectrum of MR imaging findings. Radiographics 1995; 15: 563-574
• 12 Tomasová Studynková J, Charvát F, Jarosová K et al. The role of MRI in the assessment of polymyositis and dermatomyositis. Rheumatol (Oxford) 2007; 46: 1174-1179
• 13 Callen JP. Dermatomyositis. Lancet 2000; 355: 53-57
• 14 Gerami P, Schope JM, McDonald L et al. A systematic review of adult-onset clinically amyopathic dermatomyositis (dermatomyositis siné myositis): a missing link within the spectrum of the idiopathic inflammatory myopathies. J Am Acad Dermatol 2006; 54: 597-613
• 15 Bendewald MJ, Wetter DA, Li X et al. Incidence of dermatomyositis and clinically amyopathic dermatomyositis: a population-based study in Olmsted County, Minnesota. Arch Dermatol 2010; 146: 26-30
• 16 Dalakas MC, Hohlfeld R. Polymyositis and dermatomyositis. Lancet 2003; 362: 971-982
• 17 Greenberg SA. Type 1 interferons and myositis. Arthritis Res Ther 2010; 12 (Suppl. 01) S4
• 18 De Paepe B, Creus KK, De Bleecker JL. The tumor necrosis factor superfamily of cytokines in the inflammatory myopathies: potential targets for therapy. Clin Dev Immunol 2012; 2012: 369432
• 19 Liang C, Needham M. Necrotizing autoimmune myopathy. Curr Opin Rheumatol 2011; 23: 612-619
• 20 Needham M, Fabian V, Knezevic W et al. Progressive myopathy with up-regulation of MHC-I associated with statin therapy. Neuromuscul Disord 2007; 17: 194-200
• 21 Hengstman GJD, Laak HJ, ter Vree Egberts WTM et al. Anti-signal recognition particle autoantibodies: marker of a necrotising myopathy. Ann Rheum Dis 2006; 65: 1635-1638
• 22 Iaccarino L, Gatto M, Bettio S et al. Overlap connective tissue disease syndromes. Autoimmun Rev 2013; 12: 363-373
• 23 Mastaglia FL, Needham M. Inclusion body myositis: a review of clinical and genetic aspects, diagnostic criteria and therapeutic approaches. J Clin Neurosci 2015; 22: 6-13
• 24 Dimachkie MM, Barohn RJ. Inclusion body myositis. Curr Neurol Neurosci Rep 2013; 13: 321
• 25 Schmidt J, Barthel K, Wrede A et al. Interrelation of inflammation and APP in sIBM: IL-1 beta induces accumulation of beta-amyloid in skeletal muscle. Brain 2008; 131: 1228-1240
• 26 Muth IE, Barthel K, Bähr M et al. Proinflammatory cell stress in sporadic inclusion body myositis muscle: overexpression of alphaB-crystallin is associated with amyloid precursor protein and accumulation of beta-amyloid. J Neurol Neurosurg Psychiatry 2009; 80: 1344-1349
• 27 Schmidt J, Barthel K, Zschüntzsch J et al. Nitric oxide stress in sporadic inclusion body myositis muscle fibres: inhibition of inducible nitric oxide synthase prevents interleukin-1β-induced accumulation of β-amyloid and cell death. Brain 2012; 135: 1102-1114
• 28 Rose MR. ENMC IBM Working Group . 188th ENMC International Workshop: Inclusion Body Myositis, 2-4 December 2011, Naarden, The Netherlands. Neuromuscul Disord 2013; 23: 1044-1055
• 29 Oddis CV, Reed AM, Aggarwal R et al. Rituximab in the treatment of refractory adult and juvenile dermatomyositis and adult polymyositis: a randomized, placebo-phase trial. Arthritis Rheum 2013; 65: 314-324
• 30 Gordon PA, Winer JB, Hoogendijk JE et al. Immunosuppressant and immunomodulatory treatment for dermatomyositis and polymyositis. Cochrane Database Syst Rev 2012; 8: CD003643
• 31 Dastmalchi M, Grundtman C, Alexanderson H et al. A high incidence of disease flares in an open pilot study of infliximab in patients with refractory inflammatory myopathies. Ann Rheum Dis 2008; 67: 1670-1677
• 32 Rouster-Stevens KA, Ferguson L, Morgan G et al. Pilot study of etanercept in patients with refractory juvenile dermatomyositis. Arthritis Care Res 2014; 66: 783-787
• 33 Kurita T, Yasuda S, Oba K et al. The efficacy of tacrolimus in patients with interstitial lung diseases complicated with polymyositis or dermatomyositis. Rheumatol (Oxford) 2015; 54: 1536
• 34 Breithaupt M, Schmidt J. Update on treatment of inclusion body myositis. Curr Rheumatol Rep 2013; 15: 329
• 35 Dalakas MC. Immunotherapy of myositis: issues, concerns and future prospects. Nat Rev Rheumatol 2010; 6: 129-137
• 36 Lindberg C, Trysberg E, Tarkowski A et al. Anti-T-lymphocyte globulin treatment in inclusion body myositis: a randomized pilot study. Neurology 2003; 61: 260-262
• 37 Dalakas MC, Rakocevic G, Schmidt J et al. Effect of Alemtuzumab (CAMPATH 1-H) in patients with inclusion-body myositis. Brain 2009; 132: 1536-1544
• 38 Muscle Study Group . Randomized pilot trial of betaINF1a (Avonex) in patients with inclusion body myositis. Neurology 2001; 57: 1566-1570
• 39 Muscle Study Group . Randomized pilot trial of high-dose betaINF-1a in patients with inclusion body myositis. Neurology 2004; 63: 718-720
• 40 Rutkove SB, Parker RA, Nardin RA et al. A pilot randomized trial of oxandrolone in inclusion body myositis. Neurology 2002; 58: 1081-1087
• 41 Sancricca C, Mora M, Ricci E et al. Pilot trial of simvastatin in the treatment of sporadic inclusion-body myositis. Neurol Sci 2011; 32: 841-847
• 42 Dalakas MC, Sonies B, Dambrosia J et al. Treatment of inclusion-body myositis with IVIg: a double-blind, placebo-controlled study. Neurology 1997; 48: 712-716
• 43 Dalakas MC, Koffman B, Fujii M et al. A controlled study of intravenous immunoglobulin combined with prednisone in the treatment of IBM. Neurology 2001; 56: 323-327
• 44 Walter MC, Lochmüller H, Toepfer M et al. High-dose immunoglobulin therapy in sporadic inclusion body myositis: a double-blind, placebo-controlled study. J Neurol 2000; 247: 22-28
• 45 Cherin P, Pelletier S, Teixeira A et al. Intravenous immunoglobulin for dysphagia of inclusion body myositis. Neurology 2002; 58: 326
• 46 Rose MR, Jones K, Leong K et al. Treatment for inclusion body myositis. Cochrane Database Syst Rev 2015; 6: CD001555
• 47 Alemo Munters L, Dastmalchi M, Katz A et al. Improved exercise performance and increased aerobic capacity after endurance training of patients with stable polymyositis and dermatomyositis. Arthritis Res Ther 2013; 15: R83
• 48 Alexanderson H, Munters LA, Dastmalchi M et al. Resistive home exercise in patients with recent-onset polymyositis and dermatomyositis – a randomized controlled single-blinded study with a 2-year followup. J Rheumatol 2014; 41: 1124-1132
• 49 Voet NBM, van der Kooi EL, Riphagen II et al. Strength training and aerobic exercise training for muscle disease. Cochrane Database Syst Rev 2013; 7: CD003907
• 50 Cox FM, Verschuuren JJ, Verbist BM et al. Detecting dysphagia in inclusion body myositis. J Neurol 2009; 256: 2009-2013
• 51 Breithaupt M, Schmidt J. Treatment strategies for inclusion body myositis. Expert Opin Orphan Drugs 2014; 2: 1255-1265