The Problem with a Diagnosis of Idiopathic Neuropathy

Idiopathic Neuropathy according to medical experts writing in the Journal of the Peripheral Nervous System should be considered as a disease entity in and of itself.  It is recommended that this condition be diagnosed as Chronic Idiopathic Axonal Polyneuropathy or (CIAP) as a major health problem.  (See reference 1.)

I would ask, what does the word ‘idiopathic’ add to this diagnosis?  Why not Chronic Axonal Polyneuropathy or (CAP)?

With the greatest of respect for the writers of the article, following forty-four years of living with neuropathy , a diagnosis of idiopathic neuropathy is a ‘failed diagnosis’ given the diagnostic tools and information medicine has available in 2016.

Read on to understand your patient mission: Help influence better awareness, clinical thinking and knowledge about Peripheral Neuropathy and the available tests in the health care system by learning, sharing documents, information, sources, and asking good “I” questions of your doctor.  Become a partner in your own health care and a facilitator of change.   In the process you may even get the help you need for your neuropathy.

We patients understand that there are no tests to diagnose Peripheral Neuropathy per se, as this must be done based on the patients symptoms and medical history.  The available tests can only either rule out a cause for the symptoms or confirm that damage has been done to the large or small fiber nerves.

However, failure to find either a cause or damage does not rule out a neuropathy.   The symptoms of Peripheral Neuropathy are often present without the damage to the axon (nerve) or myelin (nerve covering) as that may occur later in the course of the disease. (For example regarding GBS, see “Journal of the Peripheral Nervous System”, Research Report, Volume 19 no. 3, September 2014 page 239, paragraph 3 as but one example of what research states in this regard, beyond my own experience of decades of symptoms before damage was measurable.)

It is this focus in searching for a cause that sets the patient and doctor up for a diagnosis of idiopathic.  As noted below, medical science does not know the cause for many diseases, yet they do not over use the term idiopathic in their diagnosis of the patient.

Understanding the results and meaning of the tests now available, combined with the complete patient medical history, often point to a more precise diagnosis, possible treatment options or at a minimum an idea that might help the patient.

I always loved Mims Cushing’s’ definition of idiopathic.  In her book “You Can Cope with Peripheral Neuropathy” she defines it as being “idiot” for ‘idio’ and “pathetic” for ‘pathic’.  In fact this bit of harsh humor hits the nail right on the head.

Idiopathic to doctors of course means of “unknown cause” and is a legitimate word when seeking the cause of some disease, but it is rarely used in MS or cancer and other ‘recognized or accepted’ diseases when the cause is not known!  Why?   Does research not focus on the cause of all disease to find answers that we still do not have?

The other issue is that for lawyers’ idiopathic means “no objective proof of a problem” providing the foundation for legal denial of help for the patient. Talk about frustrated patients!   In both situations, this leaves the neuropathy patient without help that may be possible with a more precise diagnosis.

Based on the complete information available in patient history and testing doctors can provide a helpful diagnose beyond that of Idiopathic Peripheral Neuropathy.

Examples to name a few, without including the word “idiopathic” which adds nothing but uncertainty, would include the following. You can add acute (two months) or chronic (beyond two months) or progressive (remits and relapses with increasingly worse symptoms) to any of these focused findings.

While not exhaustive, this list will highlight the point being made:

• Peripheral Neuropathy / Polyneuropathy
• Axonal Neuropathy / Polyneuropathy
• Sensory Neuropathy / Polyneuropathy
• Multifocal Motor Neuropathy (MMN)
• Multifocal Demyelinating Sensorimotor Neuropathy (Lewis Summer Syndromes)
• Neuropathy with IgM Monoclonal Gammopathy
• Anti-Mag or Gangliosides Antibodies
• Sensory/Motor Neuropathy / Polyneuropathy
• Immune Mediated Neuropathy / Polyneuropathy
• Large Fiber Neuropathy / Polyneuropathy
• Small Fiber Neuropathy (SFN)
• Autonomic Neuropathy
• Autoimmune Sensory Neuronitis
• Guillain Barré Syndrome (GBS)
• Distal Symmetric Polyneuropathy
• Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
• Sjogren’s Syndrome 

Types when there is a suspected cause:

The type of neuropathy often points to either a cause or a possible treatment.  Example: Progressive Polyneuropathy was my diagnosis that came closest after a history of symptoms for decades.   The neuropathy had progressed for over four decades when this typing was made.  The type along with the medical history with other testing ruling out other causes, screamed out to do the spinal tap to check for an immune mediated neuropathy, but the diagnosis remained as idiopathic.

One University Neurologist who was determined to prove it was due to spinal surgery a few years before never consider the spinal tap.  He never looked at the history of over four decades prior to any spinal surgery.  In fact the spinal surgery was necessary due to the use of steroids for the neuropathy that had weakened the spine and caused cataracts!  A spinal tap and possible use of a trial of IVIg did not occur to this doctor in 2001, and the opportunity to stop the damage did not occur until four years later because they held onto the word ‘idiopathic” and/or ignored the medical history and facts.  Respectfully challenge the doctor, it is your body and your illness!

• Diabetic Neuropathy or Glucose Intolerance
• Diabetic Amyotrophy
• Vitamin E, B1, B6, B12 Deficiency
• Vitamin B6 toxicity
• Bariatric Surgery and Malabsorption with nutritional deficiency
• Celiac Neuropathy
• Chemotherapy/Radiation induced neuropathy
• Neuropathy in alcoholic abuse
• Hereditary or genetic neuropathy
• Neuropathy in Agent Orange exposure***
• Entrapment Neuropathy (Carpel Tunnel Syndrome)
• Toxic neuropathy
• Drug induced neuropathy
• Neuropathy with IgA, IgM Monoclonal Gammopathy
• Hepatitis C Infection
• Vasculitic neuropathy
• Neuropathy in AIDS
• Neuropathy in Lyme Disease
• Diphtheric (bacterial infections) neuropathy
• Sarcoid or Parasitic Infection (Chagas’ Disease) neuropathy
• Leprosy
• Neuropathy in cancer or Lymphoproliferative disorders
• Paraneoplastic neuropathy
• Neuropathy in myeloma or POEMS
• Neuropathy in amyloidosis
• Ulcerative Colitis
• Crohn’s Disease
• Shingles or Cytomegalovirus infections

(***Supported by the findings of the Institute of Medicine in 2010 and confirmed by the Veterans Affairs Administration law in 2012 as presumptive to Agent Orange exposure. For guidance in submitting a claim to the VA go to this link on Guidelines for Veterans or send an E Mail to gene@neuropathysupportnetwork.org for more guidance.)

The late Mary Ann Donovan, a neuropathy patient and co-founder of the now unfortunately defunct Neuropathy Association, gave me hope years ago during darker times. I had been literally tortured by ignorant ‘experts’ at a great University!  Mary Ann answered my call for help. This is by the way what eventually inspired the production of the DVD, our websites at the NSN, and lead to our patient focused approach!

Patients saved my life or what was left of it because they shared what I needed to know.  Patients may spread lots of misinformation that may or may not be actual fact, but then so do doctors even with their training. When doctors gave me the IVIg infusion to fast resulting in symptoms of congestive heart failure from fluid overload, a patient provided the insight of slowing the infusion and giving Lasix pre and post infusion.  It worked! Thank heavens for the growing number of doctors who now know and are helping neuropathy patients sort it all out.    But it takes patients and doctors working as partners to find solutions!

A Few Comments on “Tapes” Which Can Hinder a Correct Helpful Diagnosis:

Now doctors are human and are subject to the same errors all of us make in communication.  One of these we shall call ‘tapes’ or one could see them as ‘voices from the past’.  You will know you are using a ‘tape’ when you hear yourself saying something like, “All ____ look the same.”  ‘Tapes’ is a technical description often found in communication used in the Transactional Analysis School of Psychotherapy. I long for the day when unhelpful ‘tapes’ or unhelpful assumptions about Peripheral Neuropathy are a thing of the past.

This will occur when doctors cease using the ‘tapes’ about neuropathy that are preventing them from thinking.

C J Holliday who leads the Piedmont Triad Peripheral Neuropathy Support Group in North Carolina spoke of unhelpful tapes as in, if your drink alcohol  ‘you must be an alcohol” or it must ‘be due to diabetes’ if you are a diabetic without completing a complete evaluation of the patient.  Or as one doctor noted recently to a patient, “If you do not have diabetes you do not have neuropathy”. Really?

Another tape I know of that caused an otherwise brilliant University Neurologist to fail in diagnose and treatment, was the one who said, “Agent Orange does not cause neuropathy, for I was involved in the research.” Later I learned that there actually was very little real research and this unchallenged tape resulted in delayed diagnosis and treatment for four more years.  The facts were staring the expert in the face and this assumption or tape prevented a brilliant doctor from diagnosis and treatment.

Diagnosis is a Challenge Even for the Best:

Dr. Donofrio acknowledges the complexity of the over 100 causes of neuropathy and how important it is to do a complete workup of the neuropathy patient.  His summary work up in chapter 1 of his book is right on target.  I only wish more doctors would read it if they are going to diagnose and work clinically with neuropathy patients.

Here is the quote from the Dr. Donofrio book on page 4:

“SEARCH FOR CLUES TO DIAGNOSIS:

“When first evaluating a patient with a polyneuropathy, it is good practice to ask specific questions about previous diseases, viral illnesses, lifestyle, and work and occupational exposure that may render a clue to the diagnosis.  Initial questions should be asked about diabetes, alcohol abuse, vitamin deficiencies, and dietary habits.  Other questions should address the use of over the counter drugs, zinc consumption, gastric bypass surgery, and medications prescribed in the past (especially those used long term).  If no clues arise after those questions, one should enquire about HIV infection, a family history of neuropathy, foot deformities in the family, amyloidosis,  history of thyroid disease, chronic renal and liver disease, malignancy, previous treatment with chemotherapeutic agents ,connective tissue disorders, recreational use of substances, and exposure to heavy metals, industrial agents, herbicides and pesticides.”

Diagnosis is an art and a science.  The statement by Dr. Donofrio does not relate to testing, but to communicating with the patient.  Fortunately more doctors are returning to the day in which they spoke too and listen to the patient.

As one brilliant diagnostician at Harvard University, Jerome Groopman in his book How Doctors Think? said, “Often the most important thing a patient shares, is shared at the last moment when they are walking out the door.”

When left with a diagnosis of Idiopathic neuropathy, the patient is left without affirmation that is important in the strange world of neuropathy symptoms, robbing patients of self-esteem.

To name something that is real to the patient, is to provide an emotional/cognitive handle on the strange world of the neuropathy patient and their families.

From the experience of some neuropathy patients, a diagnosis of idiopathic too often results in a not too subtle suggestion that the patient has a mental illness (since all tests are normal and there is no cause it must be mental) and the statement is used as a club against the patient to send them on their way.  Many neuropathy patients have been here including me.

To further frustrate the patient, if an employer finds about such a diagnosis, this can cost the employee their career.  Been there and done that in my military and civilian career with supervisors who wanted to play doctor.  Since the cause is unknown, it must be failure to handle stress both supervisors concluded.

Medicare in 2016 still leads the way in supporting the dismissal of neuropathy by not paying for some blood tests that a doctor orders under the neuropathy profile!

There are many diseases for which we do not understand or fully understand the cause or involves other disease processes.

As Dr. Thomas Brannagan of Columbia University states, the simple reason is that too many health care professionals do not have the clinical training for the proper diagnosis and treatment of the neuropathies.

The challenging question is, “Why not train them?”

I recently went on several health care websites and with very few exceptions, every major disease is listed, but there are too many who do not even list Peripheral Neuropathy and I struggled to have these sites to consider listing it when there are more patients with Neuropathy than MS.  They always list MS. Why?  (See the Journal of the Peripheral Nervous System Vol.17, Supplement 2, at Page 44 top left hand column.)

So why is idiopathic neuropathy even necessary when a more helpful diagnosis is possible when a trained physician knows how to use and interpret a skillful hands on examination, EMG, the Nerve Conduct Study, the spinal tap, the nerve/muscle biopsy, the blood work, a skin biopsy, a genetic test, radiology workup, or testing evoked potentials for autonomic function and actually thinking about the subjective information provided in the patients’ medical history?

Dr. Norman Latov of Weil Medical College at Cornell University, shared in 2006 that for “one quarter to one-third of patients, no cause can be found and the neuropathy is called “idiopathic.”   He notes that these are usually “axonal and may be sensory or sensorimotor” and “classified according to the clinical presentation”, with “therapy primarily symptomatic.”

Patient Challenge:

I strongly recommend that patients never rest on a diagnosis of “idiopathic” neuropathy.

I remember the neurologist who was not clinically trained who wanted in a desperate way to make me a diabetic while resting on idiopathic.  He delayed treatment another four years until I gave him the article on a trial of IVIg that worked for me.  He was not aware of the usefulness of the spinal tap for such a neuropathy in 2004.  Then in 2005 for the first time my doctor, Dr. Waden Emery III, Neurologist in Lighthouse Point, Florida asked, “Why did they not do a spinal tap?”

You may want to provide the doctor with a copy of the document recently published in Neurology Today, March 15, 2012, volume 12(6); pp 30, 32-33 by Mark Moran. Read the entire article at: How to Diagnose Peripheral Neuropathy? No Simple Answers

Unfortunately, this great article does fail to mention the diagnostic value of the spinal tap, a procedure that would have resulted in my earlier treatment years before my disability was serious.   If you want a copy of this document, send an e-mail to gene@neuropathysupportnetwork.org

If you want a good description of the symptoms and causes of Peripheral Neuropathy, read Dr. Norman Latov’s book “Peripheral Neuropathy: When the Numbness, Weakness, and Pain Won’t Stop” or read The Top 20 Symptoms of Peripheral Neuropathy. Give this information to the doctor if needed.

Will the Doctor be defensive or get angry?

Perhaps, it may take a bit of skill using “I” messages such as “I wonder if it would be helpful to _____?” rather than ‘you’ messages to the doctor. ‘You’ messages are usually rejected and making the person defensive while ‘I’ messages sets the person free while stimulating thinking!  This is true even if the thinking occurs after your appointment is over.

I remember when the military Men of the Chapel went fishing to catch sea bass off of Baltimore one year and we brought the large catch of fish to shore and gave it to the Priest who was feeding the poor of the city.  In his office was a sign that read, “I give you fish and you sell fish. I am angry.  So I refused to give you fish because you sell them.  You are angry.  Better you angry”.

Your mission: Help influence better awareness, critical clinical thinking and increased knowledge about Peripheral Neuropathy and the available tests in the health care system by learning, sharing documents, information, sources, and asking good “I” questions of your doctor.  Become a partner in your own health care and a facilitator of change.  In this decade with so many good resources to learn regarding neuropathy, patients have little excuse to remain in the dark!  In the process you may even get the help you need for your neuropathy.  In my life, such an approach with patient help saved what I had left of my life after being severely disabled from ‘idiopathic’ neuropathy.

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REFERENCES:

Reference 1: Journal of the Peripheral Nervous System, Vol. 17, suppl. 2, Page 43-49 “Idiopathic Neuropathy: New Paradigms, New Promise”, 2010 and other issues of this scientific journal of the Peripheral Nerve Society.

Reference 2: “Peripheral Neuropathy: When the Numbness, Weakness, and Pain Won’t Stop” , by Norman Latov, MD PhD, AAN Press 2007.

Reference 3: “How to Diagnose Peripheral Neuropathy? No Simple Answers:  Experts Offer Some Guiding Principles”, in Neurology Today, March 15, 2012, volume 12(6); pp 30, 32-33 by Mark Moran. (Send E Mail togene@neuropathysupportnetwork.org)

Reference 4: Textbook of Peripheral Neuropathy, Peter D Donofrio, MD, Editor, Professor of Neuropathy, Chief of Neuromuscular Section, Vanderbilt University Medical Center, Nashville, TN Published by DEMOS Medical, 2012

Reference 5: “You Can Cope with Peripheral Neuropathy: 365 Tips for Living a Full Life” by Marguerite (Mims) Cushing (Neuropathy Patient) and Dr. Norman Latov, MD, PhD, published 2009.

Reference 6: “Sick and Tired” Part I and 2, Season Five TV show, The Golden Girls.