I did a search here and I could not find any mention of the HMGCR enzyme/gene and its role in a fairly new type of myopathy classification.
Not sure where to post this, here or in the genetic forum.
Earlier this week my neurologist called me out of the blue and left a message he had ordered a blood test that just recently came out, called the HMGCR antibody test.
I had to talk to the hospital's lab supervisor on when to come in, they have not done this test before and they want to ship it out to the lab for processing asap after the blood is drawn.
So doing some googlefoo, this is an statin triggered autoimmune myopathy that gets worse after cessation of statins, is usually non-inflammatory and has many of the same symptoms of other myopathies.
There is a strong linkage between having this myopathy and testing positive for certain HMGCR antibodies.
Apparently John Hopkins and other groups have been working on a commercially available test for the HMGCR antibodies and its been available since at least last year.
Treatment involves steroid type meds and IVIg, possibly for life.
Some info from a lab offering the test (PDF).
http://www.rdlinc.com/rdlinc/wp-content/uploads/2014/02/Anti-HMGCR_Autoantibodies_February_2014.pdf
A presentation from John Hopkins (PDF)
FWIW I am hetero for the SNP mentioned in it.
https://acr.confex.com/acr/2013/recordingredirect.cgi/id/2279
The way my neurologist talked, he seemed confident that I have this.
He had previous done an EMG with abnormal readings and ordered my muscle biopsy that showed an unknown myopathy, he is pretty conservative so this is a change up.
Forgot to add, I had bad muscle pain develop when starting out on two different statins back in 2012.
I was also on various fibrates before that for several years before I quit them due to bad side effects.
Not sure where to post this, here or in the genetic forum.
Earlier this week my neurologist called me out of the blue and left a message he had ordered a blood test that just recently came out, called the HMGCR antibody test.
I had to talk to the hospital's lab supervisor on when to come in, they have not done this test before and they want to ship it out to the lab for processing asap after the blood is drawn.
So doing some googlefoo, this is an statin triggered autoimmune myopathy that gets worse after cessation of statins, is usually non-inflammatory and has many of the same symptoms of other myopathies.
There is a strong linkage between having this myopathy and testing positive for certain HMGCR antibodies.
Apparently John Hopkins and other groups have been working on a commercially available test for the HMGCR antibodies and its been available since at least last year.
Treatment involves steroid type meds and IVIg, possibly for life.
Some info from a lab offering the test (PDF).
http://www.rdlinc.com/rdlinc/wp-content/uploads/2014/02/Anti-HMGCR_Autoantibodies_February_2014.pdf
A presentation from John Hopkins (PDF)
FWIW I am hetero for the SNP mentioned in it.
https://acr.confex.com/acr/2013/recordingredirect.cgi/id/2279
The way my neurologist talked, he seemed confident that I have this.
He had previous done an EMG with abnormal readings and ordered my muscle biopsy that showed an unknown myopathy, he is pretty conservative so this is a change up.
Forgot to add, I had bad muscle pain develop when starting out on two different statins back in 2012.
I was also on various fibrates before that for several years before I quit them due to bad side effects.
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