2. miopatia inflamatoria dr grau

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2. miopatia inflamatoria dr grau

  1. 1. MIOPATÍAS INFLAMATORIAS. Aproximación diagnóstica Josep M. Grau Medicina Interna Hospital Clínic de Barcelona BOGOTÁ Marzo 2012
  2. 2. MIOPATÍAS INFLAMATORIAS. ClasificaciónPOLIMIOSITIS (no cáncer)DERMATOMIOSITIS (20% cáncer en adultos)MIOSITIS CON CUERPOS DE INCLUSIÓNMIOSITIS ASOCIADAS - PM: ESP, LES, AR, Sjögren, PAN… - DM: ESP, LES, AR - MCI: ESP, LES, PTI, Sjögren…..MIOPATIA NECROTIZANTE INMUNOMEDIADA (estatinas)CAM (Cancer associated myositis)
  3. 3. BIOPSIES MÚSCUL, NERVI I ARTERIA TEMPORAL IRA: 70% MDI: 75% Altres Serveis i Hospitals: 25%300250200150100 50 0 95 96 97 98 99 00 01 02 03 04 05 06 07 08 09 10 11 19 19 19 19 19 20 20 20 20 20 20 20 20 20 20 20 20 total múscul nervi arteria arteria +
  4. 4. MIOSITIS. DISTRIBUCIÓN SEGÚN TIPO 90 80 70 60 50 DM 40 PM 30 MCI 20 10 0 1977-1997 1998-2005 2005-2010
  5. 5. MIOPATIAS INFLAMATORIAS. DIAGNÓSTICODM: Diagnóstico positivo Lesión cutánea: típica o no Histopat: Atrofia perifascicular C5b9 (MAC) precoz Células B, necrosis subletal ICAM-1 (sobreexpr.), VCAMPM: Diagnóstico de exclusión (distrofias FEH, cinturas, MCI, tóxicas…)MCI: Formas de presentación variadas En ocasiones más de una bx
  6. 6. DERMATOMIOSITIS. FORMAS DE PRESENTACIÓN• Lesiones cutáneas (Gottron, eritemas, poiquilodermia, hiperplasia cuticular, edema palpebral, manos mecánicas, paniculitis, edema…..). FORMAS “A-HIPOMIOPÁTICAS”• Debilidad muscular (simétrica, proximal, aguda-subaguda) (formas sine dermatitis)• Elevación de enzimas musculares (CPK, LDH, GOT/GPT)
  7. 7. Dermatomiositis
  8. 8. Autoanticuerpos en MII• Jo-1 : Afectación pulmonar• Mi-2 : Dermatomiositis clásica• P-155: Miositis asociada a neoplasia – Elevado valor predictivo negativo• Anti SRP: Miositis grave (pulmón, corazón...)
  9. 9. POLIMIOSITIS. FORMAS DE PRESENTACIÓN• Debilidad muscular (simétrica, proximal, subaguda) • (no afectación facial, atrofia tardía, no datos de neuropatia…)• Elevación de enzimas musculares (CPK, LDH, GOT/GPT)
  10. 10. POLIMIOSITIS
  11. 11. Polimiositis. (Ag de clase I)
  12. 12. UNICORNS, DRAGONS, POLYMYOSITIS,AND OTHER MYTHOLOGICAL BEASTS A.A. Amato and R. Griggs Neurology 2003;61:288-290
  13. 13. POLYMYOSIYTIS: NOT A UNICORN ORMYTHOLOGICAL BEASTS……..BUT MAY BE A DUCK? JT Kissel Neurology 2008;70:414-5 Correlation of muscle biopsy, clinical course, and outcome in PM and sporadic IBM. N. Chahin and A. Engel Neurology 2008;70:418-24
  14. 14. DISTROFIAS MUSCULARES DE CINTURAS (Limb girdle)• LGMD 2C• LG MD 2D Sarcoglicanos• LGMD 2E• LGMD 2F• LGMD 2A : Calpaína 3• LGMD2 B: Disferlina• LGMD 2G: Teletonina• LGMD 2H:
  15. 15. DEFICIENCIA DE DISFERLINA (gen cromosoma 2p13)• Fenotipo clínico: – Miopatía de Miyoshi – LGMD 2B – Miopatía distal compartimento anterior
  16. 16. DEFICIENCIA DE DISFERLINA (gen cromosoma 2p13)Cuadro clínico: Inicio 2ª-3ª década EEII proximal y distal Lenta progresión CK muy elevadasHistopatología: 70%: Inflamación y necrosis <CD8, >CD68 que PM HLA clase I: negativo
  17. 17. DISTROFIA MUSCULAR F-E-H
  18. 18. Sporadic Inclusion Body Myositis Josep M. Grau and Albert Selva-O’Callaghan DIAGNOSTIC CRITERIA IN AUTOIMMUNE DISEASES. Y. Shoenfeld et al. (eds) 2008 Humana Press, Totowa, NJAbstract: Sporadic inclusion body myositis (sIBM) is the most commonacquired muscle disease in elderly individuals, particularly men.Its prevalence varies among ethnic groups, but it is estimated at 35per one million people over 50 years.Genetic as well as environmental factors and autoimmune processesmight both have a role in its pathogenesis. Unlike other inflammatory myopathies,sIBM causes very slowly progressive muscular weakness and atrophy. It has adistinctive pattern of muscle involvement and different forms of clinicalpresentation. In some cases a primary autoimmune disease coexists.Diagnosis is suspected on clinical grounds and is established by a typicalmuscle pathology.The rule for sIBM is its refractoriness to conventional forms of immunotherapy.
  19. 19. Miositis con cuerpos de inclusión
  20. 20. MIOSITIS AMB COSSOS D’INCLUSIÓ. HISTÒRIA1967 S. Chou. Science. Myxovirus-like structures……1970 S.Carpenter. Neurology. Virus-like filaments….1971 EJ Yunis. Lab Invest. Inclusion body myositis…1978 S. Carpenter. Neurology. IBM, a distinct variety…..1982 M. Danon. Neurology. A corticosteroid-resistant…..1987 L. Calabrese. Arthr & Rheum. IBM as treatment-resistant…1989 H. Nishino, A Engel. Ann Neurol. IBM. The mumps hypothesis…..1989 P. Lotz A. Engel. Brain. IBM. 40 patients…..1989 JM. Grau. Med Clin. MCI. Una variedad….1992 G. Suarez. Neurology. The dropped head syndrome….1993 V. Askanas. Neurology. Congo-red positive amyloid….1993 M. Schröder. Moll Cell Biochem. Mitochondrial deletions in 3 cases…1994 JM. Grau. Rev Clin Esp. Tres casos de MCI……2002 MC. Dalakas. Lancet. PM, DM, IBM….2006 MC. Dalakas Nat Clin Pract Neurol. sIBM…2008 A. Engel. Neurology, PM/IBM…..2012 J Milisenda, JM Grau Sem. Fund. Esp. Reum MCI (esporádica)
  21. 21. MCI (Patogenia)• INFLAMACIÓN – Citocinas, quimiocinas, Clase I CHM, cel. B....• DEGENERACIÓN – Proteína Beta-amiloide, priónica, ubiquitina.....• MITOCONDRIAL – Deficiencia parcial de COX – FGF-21 (marcador biológico?)
  22. 22. Proposed diagnostic criteria for sIBM (2008)Clinical features:duration of illness >6 monthsage at onset > 30 yearsslowly progressive muscle weakness and atrophy: selective pattern with early involvement of quadricepsfemoris and finger flexors (frequently not symmetric)DysphagiaLaboratory features:serum CK levels might be high but can be normalEMG: myopathic or mixed patterns, with both short and long duration motor unit potentials and spontaneousactivity
  23. 23. Muscle biopsy:- Myofiber necrosis and regeneration- Endomysial mononuclear cell infiltrate (in variable degree)- Mononuclear cell-invasion of non-necrotic fibers (mainly CD8)- MHC class I expression in otherwise morphologically healthy muscle fibres- Vacuolated muscle fibers (rimmed vacuoles)- Ubiquitin- positive inclusions and amyloid deposits in muscle fibres- Nuclear and/or cytoplasmic filamentous inclusions of 16-20 nm on electronmicroscopy- COX-negative fibers
  24. 24. Diagnostic categories:Definite sporadic inclusion body myositis: · Characteristic clinical features with biopsy confirmation: inflammatorymyopathy with autoaggressive T cells, rimmed vacuoles, COX-negative fibers,amyloid deposits or filamentous inclusions and upregulation of MHC class Iexpression. With these pathological findings the presence of other laboratoryfeatures are not mandatory. · Atypical pattern of weakness and atrophy but with diagnostic biopsyfeatures.
  25. 25. Probable sporadic inclusion body myositis: · Characteristic clinical and laboratory findings butincomplete biopsy criteria (eg. features of necrotising inflammatorymyopathy with T cell invasion but absence of rimmed vacuoles,amyloid deposits, filamentous inclusions and COX-negative fibers.Possible sporadic inclusion body myositis: · Atypical pattern of weakness and incomplete biopsycriteria
  26. 26. Differential diagnoses (prominent data for each condition)Motor neuron disease: Hyperreflexia, cramps, fasciculationstypical EMG.Polymyositis: Subacute (weeks to months)Proximal and symmetrical muscle weaknessHigh CK levels.Vacuolar myopathies: Lack of inflammation, negative MHC HLA-class I(myofibrillar myopathies, hIBM)
  27. 27. I.B.M. PRESENTING SYMPTOMS 36/144 MII cases (1997-2007)20 191816141210 9 8 6 5 4 2 2 1 0 Proximal Distal Mixed Axial Resp. weakness weakness weakness weakness Failure
  28. 28. I.B.M. PRESENTING SYMPTOMS 36/144 MII cases (1997-2007)2018 316141210 8 16 2 6 4 7 2 2 1 3 0 1 1 Proximal Distal Mixed Axial Resp. weakness weakness weakness weakness Failure Without dysphagia With dysphagia
  29. 29. Camptocormia ?
  30. 30. Algorithm for diagnosis of occult cancer in inflammatory myopathies (Selva et al., 2010). MYOSITIS DM PM sIBM PET/CT PET/CT p155 (+) p155 (-) once at No screening once at diagnosis diagnosis PET/CT PET/CTyearly for 3-5 once at years diagnosis
  31. 31. MIOSITIS. (CONCLUSIONES )1. Las lesiones cutáneas son de gran ayuda en el diagnóstico de DM.2. Hay características A-P distintivas entre las formas de miositis.3. Hay formas de miositis (PM/DM/MCI) asociadas a otras entidades.4. El diagnóstico de PM es de exclusión.5. La MCI es frecuente y puede presentarse de forma muy variada.6. La práctica de PET-TAC (únicamente) es adecuada para descartarneoplasia asociada.

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