3rd Time to Post This Question - No Responses

[LowMac]

This question I will admit is one for the Dr.s who reply on this forum and it's understandable that fellow-patients/laypersons are unable to answer it.

I asked this question originally in May and then again on July 13th of this year - 2011. These are the two links that show where I originally asked it (both are indexed on the search engines, both showing no responses given):  

(first time) http://www.medhelp.org/posts/Neurology/Large-axonal-swellings-Punch-Biopsy/show/1521572

(second time) http://www.medhelp.org/posts/Neurology/Asked-2-months-ago-Large-axonal-swellings-Punch-Biopsy/show/1555668

I'll now ask the question a 3rd time and it is simply this:

-What can "scattered large axonal swellings" indicate on a miscroscopic analysis of a hole punch nerve biopsy?-

I have searched intensley online but very little is available on this subject. I have indications of anxonal peripheral neuropathy and serious disorders such as MS and ALS have been ruled out (I do however have well-treated autoimmune hypothyroidism and I have had vitamin E and D defiencies corrected). If large axonal swellings are a finding in peripheral neuropathies, simply hearing this from someone with knowledge would be appreciated.

In years past I donated to MedHelp an I have offered lengthy posts, simply to benefit fellow-patients at times. I understand this is not one of the fee-based forums but if I can get a bit of input, I would be more than grateful.

Thanks.

[Christopher R Newey, DO]

Thanks for using the forum. I am happy to address your questions, and my answer will be based on the information you provided here. Please make sure you recognize that this forum is for educational purposes only, and it does not substitute for a formal office visit with a doctor.

Without the ability to examine and obtain a history, I can not tell you what the exact cause of the symptoms is. However I will try to provide you with some useful information.

Axonal swelling on a nerve biopsy just means axonal injury. It typically will precede distal axonal degeneration. In the right clinical context, it is typically associated with a peripheral neuropathy.

There are many causes of peripheral neuropathies. One of the most common causes of neuropathy is diabetes, and sometimes only glucose intolerances, or abnormal rises in blood sugar after a glucose load can be the only indication (this is called an oral glucose tolerance test). Other causes include but are not limited to hereditary/genetic causes (such as in a disease called Charcot-Marie-Tooth, in which there is a family history of sensory neuropathy usually from an early age associated with other clinical features such as high-arched feet), autoimmune problems (such as lupus (SLE), Sjogren's, Churg-Strauss (in which asthma also occurs), thyroid dysfunction)), polyarteritis nodosa (which affects blood vessels), and demyelinating diseases (such as CIDP). Vitamin B12 and B6 deficiency, as well as excess vitamin B6, can also cause neuropathy. Some toxins, such as lead, arsenic, and thalium can cause large fiber sensory neuropathy. Other causes include abnormalities of protein metabolism, as in a type called amyloidosis or monoclonal proteinemia. In many neuropathies, both the sensory and motor nerves (the nerves that supply the muscles) are involved, leading to sensory symptoms as well as weakness.

Do you follow with a neurologist? If not, I would highly recommend that you obtain a neurological evaluation and workup.

Thank you for this opportunity to answer your questions, I hope you find the information I have provided useful, good luck.

[LowMac]

Dr. Newey,

Thanks so much for an answer, even more extensive that I could have hoped for.

Yes, I have been to a neurologist -- a six-months stretch of testing, until I was unable to continue paying the extremely high office visits and testing fees. I was first given NCS tests, which showed low amplitudes in several nerves, especially in my surals. The Dr. suspected anxonal peripheral neuropathy and my vitamin E deficiency was highly suspect as a contributing cause (treated for a year now), as is my autoimmune thyroid disease (Hashimoto's/Hypothyroidism).

After discontinuing with the neurologist, due to many 1,000s of dollars in med bills (also included huge battery of blood tests and spinal tap), I decided to have my regular Dr. office do the hole punch biopsy. The problem was that they would then not give me a clear answer as to what the findings indicated -- likely because they had no knowledge in that particular area of neurology.

I highly suspected that the large axonal swellings further pointed to a peripheral neuropathy, due to my other findings and my ongoing symptoms of pain and muscle weakness in my limbs.

I'm very grateful for your answer and I certainly choose it as "the best" one. As soon as the icons appear for choosing it as "best", I will certainly do so (strangely these icons don't always appear even when I place my browser in the area where they are supposed to be).

Thanks again!