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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

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what can i teach in 15 min
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
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
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
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
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 atrophy1
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
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.
  • Treatment:
    • Vitamin D = 30 nmol/L;testosterone = N.
    • Creatine monohydrate (0.1 g/kg/d).
case 2 molecular issues
Case # 2- Molecular issues
  • Athena claims that they can detect 99 % of DYS caseswith 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.
  • 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
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
Case # 3– Skinny Legs
  • Male 65 y.
  • Slowly progressive thigh weakness.
  • CK = 1,200
  • EMG = mixed pattern
slide13
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
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.
thanks
Thanks
  • 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

  • Warren Lammert and Family
  • CIHR – Institute of aging.
  • McMaster Children’s Hospital and Hamilton Health Sciences Foundation.
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