What can i teach in 15 min
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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?

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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


What can i teach in 15 min

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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