Another metabolic myopathy which should be in this differential is the S113L CPT2 variant. This is a mutation which produces a heat labile CPT2 protein which loses activity when muscle warms up due to exertion. We have seen this present with profound rhabdomyolysis in young adults who suddenly become exposed to high level muscular activity, including members of the military in boot camp and once in a member of a police SWAT squad during intense training. Since this is recurrent in this individual per the gym encounter I would strongly suggest follow up investigations for a metabolic myopathy as there is a risk of acute renal failure next time he does anything energetic.
Mike Bennett
Michael J. Bennett PhD, FRCPath, FACB, DABCC
Professor of Pathology and Laboratory Medicine,
University of Pennsylvania.
Evelyn Willing Bromley Endowed Chair in Clinical Laboratories and Pathology,
Director, Metabolic Disease Laboratory
The Children's Hospital of Philadelphia, 5NW58
34th Street & Civic Center Blvd
Philadelphia, PA 19104-4399
tel 215 590 3394
fax 215 590 1998
[log in to unmask]
>>> "Hallworth Mike (RLZ)" <[log in to unmask]> 8/26/2009 8:35 AM >>>
I have seen McArdle's present like this, and agree with those who
suggest it needs following up. Our chap went into ARF, and on
questioning had had a number of episodes of muscle pain and dark urine
after exercise in the past which had been ignored. At the very least,
see if his CK is normal now.
Mike
-----Original Message-----
From: Clinical biochemistry discussion list
[mailto:[log in to unmask]] On Behalf Of Robert Lord
Sent: 26 August 2009 10:33
To: [log in to unmask]
Subject: High CK - ?further investigation
Reviewing a set of medical notes today on a 24 yr old male who was
admitted in July with a CK of 35,825. Swelling of both arms having spent
all day laying slabs in his garden.
Apparently had similar episode in Jan following exercise at gym.
Otherwise well. Medication = inhalers for asthma.
O/E muscles in both arms swollen and tender. Other tests - TSH = normal,
CRP = normal, U+E = normal, FBC = normal, ALT = 165, LDH = 1243.
Elevated urine myoglobin = 124 ug/L. Treated with iv fluids. CK = 7203
when discharged 3 days later. No follow up has been arranged.
Do you see this kind of self induced increase in CK due to strenuous
exercise or should I be suggesting follow up regarding investigation of
a possible metabolic myopathy?
Many thanks
Rob
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