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Download post-surgery recovery - Ontario Rheumatology Association
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What can I teach in 15 min? Update on statin myopathies. What to consider when a diagnosis of “inflammatory myopathy” is not responding. Do not miss IBM. Case # 1– Lumber Jack! 69 y RHD male. PMHx: Angioplasty – 1995 Meds: Simvastatin, ASA, atenolol, terazocin, vits B/C/E HPI: tree cutting x 2 ++ DOMS w/ CK to 4869 then dropping to 341 over 2 d. Statins and myopathy. 3 - 5 % of patients develop myalgias. 0.1 % = rhabdomyolysis (10 X ULN). ? direct toxicity (phrenylation, COQ10). Recently there is evidence of delayed onset necrotic myopathy responsive to immunomodulation (Amato, M and N; Mammen, AL, Arthritis and Rheum, 63:713-, 2011) = induce expression of anti-HMGCR autoanitbodies. Statin myositis. 100 % of patients had myonecrosis. 20 % showed “inflammation”. MOST of the patients in both studies responded to MTX and prednisone. 27/28 of our patient IDed in past 4 years responded to MTX and prednisone - one needed pulse solu-medrol and IgG. 50 % of our patients had inflammation in biopsy. Case # 2- Calf atrophy 26 y old male with difficulty getting up from squat age 19 y > progressive. Family history - parents are consanguinous (paternal great grandmother is sister to his maternal great grandmother), one sister with similar phenotype and brother sister no weakness. Examination: MS/CN = N; MOTOR = minimal proximal UE weakness, profound calf > anterior lower leg atrophy and weakness with hip flexors = 2/5 and hamstrings 3/5. Case #2- Calf atrophy. Muscle biopsy = inflammation, N - dysferlin. CK > 3,000 iU. EMG: fibrillations, PSW, myopathic. Dx: inflammatory myopathy - no response to corticosteroids. Rheumatologist wanted a second opinion. Patient wanted to know about Rx options. Case # 2= New mutation Calf atrophy - whole DYS gene sequenced. Mutation analysis = c.4747 T>G transversion (homo); p.Tyr1583Asp. Athena = “Since these types of sequence variants are similar to those observed in both disease-associated mutations and benign polymorphisms, the nature of this variation precluded clear interpretation.” in silico evaluation: – SIFT = “not tolerated” – PolyPhen = “probably damaging”, score = 3.024. – Tyr = tyrosine is highly conserved 46/46 vertebrata. Case # 2- Molecular issues claims that they can detect 99 % of DYS cases with a blood lyphocyte Western blot. We found that the immunohistochemistry was normal in this case and many others. We ran Western blotting and found none, reduced, normal and overexpression in 9 cases. Athena Muscle Nerve. 2013 May;47(5):740-7. Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/myoshi myopathy necessitates mutational screen for diagnosis. Nilsson MI, Laureano ML, Saeed M, Tarnopolsky MA. Physical Exam - Clues to a genetic myopathy. Complete Neurological Exam. – Cataracts, myotonia (DM1). – Ptosis (MG, OPMD, mito). – PEO (MG, mito, RSS). – Calf atrophy (DYS, hIBM). – Calf hypertrophy (BMD, LGMD) MSK exam: – FSHD may get rotator cuff issues. – Contractures (Bethlem). Case # 3– Skinny Legs Male 65 y. Slowly progressive thigh weakness. CK = 1,200 EMG = mixed pattern IBM More common in older men. Quadriceps and finger flexor atrophy. CK is elevated but mild/moderate. EMG is often distinct from others. Swallowing affected in about 70 %. Biopsy shows rimmed vacuoles (+ αB crystallin, tau, APP) + COX – ve. When to send for further testing. No cause for the high CK. Neurological exam is abnormal (beyond radiculopathy or diabetic neuropathy). Any CK over 1,000 iU/L. Positive family history of high CK or NMD or arrhythmia/pacer or non-hypertensive cardiomyopathy (lamin A/C, BMD)(HOCM screen @ CHEO). SOBOE + weakness (Pompe, MG, LGMD, mito.). – Sitting/supine FVC - > 20 % drop = diaphragm weak. The clinic: Ms. L. Brandt Ms. Erin Hatcher Ms. L. Brady Ms. D. Johnston Ms. H. Vey Ms. K. Scott The lab: Dr. M. Nilsson Dr. M. Akhtar Dr. L. MacNeill Mr. D. Ogborn Collaborators: Dr. B. Lach Dr. J. Provias Dr. J. Bourgeois Dr. T. Hawke Dr. J. Schertzer Thanks • Warren Lammert and Family • CIHR – Institute of aging. • McMaster Children’s Hospital and Hamilton Health Sciences Foundation.
