[CIS PIDD] [cis-pidd] Asymptomatic CK of 25, 000 U/L in XLA - OTHER DX?

Fri Sep 8 17:47:05 EDT 2017

Dr. Raasch:

Might there be any occupational risk factors for this patient to have a high CK?   Weight-lifting?  Running?  Construction worker who works a jackhammer? (Sorry ... couldn't resist)      ;-)

The sports science literature is rather rich.  E.g., Kanda et al., Exerc Immunol Rev 2014 -- apparently, 10 sets of 40 calf lifts is enough to raise serum CK to a maximum of 6000 +/- 6500 (SD) at 96 h.     Latham et al., J Fam Pract 2008 cite a paper that I can't find that suggests that 13% of exercise subjects would break 20,000 IU/L.

The "macro CK" in the review Dr. Sullivan cited sounds interesting.  I've never heard of that before.

       - Karl

Karl O. A. Yu, M.D., Ph.D., F.A.A.P.
Scientist II and Assistant Director, Center for Infectious Diseases and Immunology
RGH Research Institute | Rochester General Hospital | Rochester Regional Health
1425 Portland Ave., Room R-403, Rochester, NY   14621
Tel  585-922-3709  |  Fax  585-922-2415

From: cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
Sent: Friday, September 08, 2017 5:36 PM
To: CIS-PIDD
Subject: Re: [cis-pidd] Asymptomatic CK of 25,000 U/L in XLA - OTHER DX?

Great discussion here

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4871266/#!po=18.2927<https://urldefense.proofpoint.com/v2/url?u=https-3A__www.ncbi.nlm.nih.gov_pmc_articles_PMC4871266_-23-21po-3D18.2927&d=DwMFAg&c=ZcS_IThVDLRgSnibLQVJ9vwqRPpc3RkFqvJL1VfvJu0&r=SS5WX_zJKFGQt9gnWxXM2zj3mGuaCrOGfogIF4rsPm06T2ggGCIyqTpu8I8GvD7y&m=cmfKRU5PMXQnSXjVlSAR3OEn3yGE0DT-wo8P8pgMLnk&s=VPl0scrdzUt-vQiw6MJRwAn8XcxIVwz8Gwsth0tTnog&e=>
Kate Sullivan
Sent from my iPhone

On Sep 8, 2017, at 4:36 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Hello everyone, thoughts about DRAMATICALLY ELEVATED CK in asymptomatic young man with XLA (other than the obvious myositis)?

19 year-old young man with XLA.  'Low flyer' until a few years ago  when noted creatine kinase (CK) of 25,000 U/L (REF. 24-200) about 4 years ago (modestly elevated transaminases led to this finding).  Interestingly then (and presently) he has had NO symptoms of fatigue, weakness, myalgia; exam has revealed NO evidence of muscle wasting or atrophy; skin and nail exam is unremarkable.

** MY QUESTION ** :  any other considerations outside myopathy (including lab error, interfering substances, etc.) that would result in persistently and (intermittently dramatically elevated) CK FOR SEVERAL YEARS in an asymptomatic young man??    CK 25K a few years ago; nadir of 3,000 U/L for several years and recent peak again to >25,000 U/L.

Only remarkable labs have been CK; modestly increased ALT/AST both hovering in 90s; aldolase  of 23 (and low 20s; ref. " < 14.5 U/L"); modest thrombocytosis

UNREMARKABLE(!) LABORATORY STUDIES: EKG; echo;  ESR; CRP; GGT; CBC; TSH/T4/T3; U/A; urine myoglobin; troponin; EBV/CMB/PARVO PCR; urine organic acids; serum amino acids; CBC; electrolytes.   Genetic testing for dystropin mutation unremarkable as was screening for
AGAT  and GAMT deficiency.

Consultants have include neuromuscular/metabolic specialists.  Family is consistently reluctant to schedule open muscle biopsy, primarily because he is asymptomatic.

An obvious next step in his workup is open muscle biopsy and associated studies as recommended by neurology/metabolics.  Just wondering if there is additional considerations or alternative explanations.

thank you!

-jason

jason raasch, md
Midwest Immunology Clinic
Plymouth, MN

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