Today's post from countingmyspoons.com (see link below) is a very sensible and probing discussion of small fibre neuropathy and its relationship to fibromyalgia. It's written by a fibromyalgia patient who's also been told that she has small fibre neuropathy and this is a source of confusion for many patients, whose diagnosis is often both vague and unsatisfactory. Doctors often avoid lengthy explanations because they feel that the patients just won't understand the theory, which is a little demeaning to say the least. Maybe the point is that it doesn't really matter in the end what sort of nerve damage you have - the symptoms are very recognisable to most neuropathy patients and the important thing is treating those symptoms and learning to live with the disease. Nevertheless, this is a very good article and well worth a read.
February 27, 2015 By Julie
In the last few years we’ve seen many articles about the overlap of small fiber neuropathy (or small fiber polyneuropathy – same thing) in Fibromyalgia and the hope that we may be able to use skin biopsies of these small fiber nerves to diagnose Fibromyalgia. I’ll be honest I thought for a while we were just seeing the same study popping back up in the news (and it frustrated me); however, I’ve realized I was wrong. There have actually been a couple of studies in as many years that have made this connection. That said all of the studies I’ve read have been very small (less than 30 participants), and they are not finding that all of the Fibromyalgia patients have this (only about 50% of those in the studies). However, these studies may be a stepping stone to uncovering one potential cause for the pain associated with Fibromyalgia.
But, what is Small Fiber Neuropathy?
Small Fiber Polyneuropathy (SFPN) is a disease (yes, an actual disease) that cause degeneration in the small fiber neurons. The small fiber nerves are the ones that transmit the information about pain and temperature. These small fibers are also involved in many areas of the autonomic nervous system (the part that controls the automatic features like breathing, digestion, blood flow), so it’s a little more than just burning and itching in the feet.
Small Fiber Neuropathy is more than just burning and itching hands and feet.
Unlike problems in the large nerves small fiber neuropathies don’t show up in EMG and nerve conduction studies. SFPN is most commonly associated with diabetes, but can be caused by a variety of other diseases and illnesses, and can even be genetic. A skin biopsy is the primary way of diagnosing SFPN. Unfortunately, diagnosis of SFPN doesn’t do much for those of us with Fibromyalgia except perhaps make us feel like we have a better diagnosis than just Fibromyalgia. The treatments for SFPN are basically the same ones that we already use for Fibromyalgia (anti-depressants, anti-convulsants, topical pain treatments, gabapentin, and tramadol to name a few.
What are the symptoms of Small Fiber Neuropathy?
Painful burning/ itching feeling in the hands and feet – this seemsto be the primary symptom
Often worse at night and/or made worse with heat or cold – often people can’t stand to have the sheets touching their feet.
Alcohol can also increase this symptom
Digestive symptoms including diarrhea, constipation, nausea, vomiting
Urinary incontinence
Periods of increased heartbeat
Dry eyes/ mouth
Abnormal sweating
orthostatic hypotension
erectile dysfunction
Skin changes in affected areas
Interestingly, I have pretty much all of the symptoms listed, and so many of these are symptoms we often attribute to “just Fibro”. My diagnosis journey began with burning and tingling in my hands, a variety of tests turned up nothing. I’ve often had a burning in my feet (and they get red and puffy) if I do much walking but I just wrote it off as the effects of walking too much in poorly fitted shoes. Then in December I noticed that I was waking up with this extreme burning in my feet. They would feel like they were burning but also as if they were extremely dry, even if I’d put lotion on them just before I went to sleep. To feel my feet the skin didn’t feel dry to the touch, but that’s the sensation that was being transmitted to my brain (along with the severe burning). I noticed that more and more often they were also very red and puffy looking. After doing some research I found that this is a (rare) side effect of the medication I was on for migraines (Verapamil) and when I told my neurologist about the symptoms he had me stop the med. The symptoms did decrease after about a month off of Verapamil but they haven’t completely disappeared. I think they were there all along I just hadn’t really connected them. I have noticed that the tingling in my hands and the burning in my feet are much worse on nights when I’ve been drinking. I would never have thought to connect the other issues like the urinary and digestive issues had I not read it for myself in the NIH documentation.
Do you also have painful tingling and burning in your hands and feet? How many of the other symptoms do you have?
Further reading: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3086960/
http://countingmyspoons.com/2015/02/small-fiber-neuropathy/
Very short and simple but very useful for people new to neuropathy, todays post from interohealthcare.com (see link below) sums up nerve damage and which nerves are involved in a nutshell. Thanks to the complex nature of neuropathy, it's so easy to forget the basic details of what's happening to your body. This short article is a useful refresher for everybody living with neuropathy.
Neuropathy and Nerve Damage Info from WebMD: Never Damage
Your nervous system is involved in everything your body does, from regulating your breathing to controlling your muscles and sensing heat and cold.
There are three types of nerves, or neurons, in the body:
Autonomic nerves. These nerves control the involuntary or partially voluntary activities of your body, including heart rate, blood pressure, digestion, and temperature regulation.
Motor nerves. These nerves control your movements and actions by passing information from your brain and spinal cord to your muscles.
Sensory nerves. These nerves relay information from your skin and muscles back to your spinal cord and brain. The information is then processed to let you feel pain and other sensations.
Nerve pain and nerve damage can be mild. But, because nerves are essential to all you do, nerve pain and damage can seriously affect your quality of life.
What Are the Symptoms of Nerve Pain and Nerve Damage?
With nerve damage there can be a wide array of symptoms. Which ones you may have depends on the location and type of nerves that are affected. Damage can occur to nerves in your brain and spinal cord. It can also occur in the peripheral nerves, which are located throughout the rest of your body.
Autonomic nerve damage may produce the following symptoms:
inability to sense chest pain, such as angina or heart attack
too much sweating (known as hyperhidrosis) or too little sweating (known as anhidrosis)
lightheadedness
dry eyes and mouth
constipation
bladder dysfunction
sexual dysfunction
Damage to motor nerves may produce the following symptoms:
weakness
muscle atrophy
twitching, also known as fasciculation
paralysis
Sensory nerve damage may produce the following symptoms:
pain
sensitivity
numbness
tingling or prickling
burning
problems with positional awareness
In some instances, people with nerve damage will have symptoms that indicate damage to two, or even three, different types of nerves. For instance, you might experience weakness and burning of your legs at the same time.
http://www.interohealthcare.com/conditions-helped-2/nerve-damage/
Today's post from ghr.nlm.nih.gov (see link below) looks at a rare form of neuropathy (1 or 2 in 100,000) that still shares the same symptoms as most other forms. If you Google neuropathy you may well come across several articles about hereditary neuropathy and may start to wonder if that's what you have. This article helps to clear up why it's most likely that your form of neuropathy stems from another source. Basically, hereditary neuropathy happens as a result of an inherited genetic abnormality but the problems you may face from the diagnosis on, are much the same as most people having to live with the disease and what's important is how those symptoms are treated to reduce their impact on your life.
What is hereditary sensory neuropathy type IA?
Reviewed March 2015
Hereditary sensory neuropathy type IA is a condition characterized by nerve abnormalities in the legs and feet (peripheral neuropathy). Many people with this condition experience prickling or tingling sensations (paresthesias), numbness, and a reduced ability to feel pain and sense hot and cold. Some affected individuals do not lose sensation, but instead feel shooting pains in their legs and feet. As the disorder progresses, the sensory abnormalities can affect the hands, arms, shoulders, joints, and abdomen. Affected individuals may also experience muscle wasting and weakness as they get older. Weakness in the ankle muscles can make walking difficult. As the condition progresses, some people with hereditary sensory neuropathy type IA require wheelchair assistance.
Individuals with hereditary sensory neuropathy type IA typically get open sores (ulcers) on their feet or hands or infections of the soft tissue of the fingertips (whitlows) that are slow to heal. Because affected individuals cannot feel the pain of these sores, they may not seek immediate treatment. Without treatment, the ulcers can become infected and may require amputation of the surrounding area or limb.
Some people with hereditary sensory neuropathy type IA develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). Hearing loss typically develops in middle to late adulthood.
The signs and symptoms of hereditary sensory neuropathy type IA can begin anytime between adolescence and late adulthood. While the features of this condition tend to worsen over time, affected individuals have a normal life expectancy if signs and symptoms are properly treated.
How common is hereditary sensory neuropathy type IA?
Hereditary sensory neuropathy type IA is a rare condition; its prevalence is estimated to be 1 to 2 per 100,000 individuals.
What genes are related to hereditary sensory neuropathy type IA?
Mutations in the SPTLC1 gene cause hereditary sensory neuropathy type IA. The SPTLC1 gene provides instructions for making one part (subunit) of an enzyme called serine palmitoyltransferase (SPT). The SPT enzyme is involved in making certain fats called sphingolipids. Sphingolipids are important components of cell membranes and play a role in many cell functions.
SPTLC1 gene mutations reduce the amount of functional SPTLC1 subunit that is produced, which results in an SPT enzyme with altered activity. This altered enzyme makes molecules called deoxysphingoid bases, which it does not normally produce. Because of this new function, the SPT enzyme's production of sphingolipid is reduced. Overall, there does not seem to be a decrease in sphingolipid production because the body is able to compensate for the SPT enzyme's reduced production. When accumulated, deoxysphingoid bases are toxic to neurons. The gradual destruction of nerve cells caused by the buildup of these toxic molecules results in loss of sensation and muscle weakness in people with hereditary sensory neuropathy type IA. Although the SPT enzyme does not produce a normal amount of sphingolipids, the body is able to compensate, and there does not seem to be an overall reduction of these fats in the body.
Read more about the SPTLC1 gene.
How do people inherit hereditary sensory neuropathy type IA?
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
In most cases, an affected person has one parent with the condition.
Where can I find information about diagnosis or management of hereditary sensory neuropathy type IA?
These resources address the diagnosis or management of hereditary sensory neuropathy type IA and may include treatment providers.
Gene Review: Hereditary Sensory Neuropathy Type IA
Genetic Testing Registry: Neuropathy hereditary sensory and autonomic type 1
Rare Diseases Clinical Research Network: Inherited Neuropathies Consortium
The Neuropathy Association: Diagnosing Neuropathy
You might also find information on the diagnosis or management of hereditary sensory neuropathy type IA in Educational resources and Patient support.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.
Where can I find additional information about hereditary sensory neuropathy type IA?
You may find the following resources about hereditary sensory neuropathy type IA helpful. These materials are written for the general public.
MedlinePlus - Health information
Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases
Additional NIH Resources - National Institutes of Health
National Institute of Neurological Disorders and Stroke: Peripheral Neuropathy Fact Sheet
Educational resources - Information pages (9 links)
Patient support - For patients and families (4 links)
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
Gene Reviews - Clinical summary
Genetic Testing Registry - Repository of genetic test information (1 link)
ClinicalTrials.gov - Linking patients to medical research
PubMed - Recent literature
OMIM - Genetic disorder catalog
What other names do people use for hereditary sensory neuropathy type IA?
autosomal dominant hereditary sensory radicular neuropathy, type 1A
hereditary sensory and autonomic neuropathy, type IA
HSAN1A
HSAN IA
HSN1A
HSN IA
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.
What if I still have specific questions about hereditary sensory neuropathy type IA?
Ask the Genetic and Rare Diseases Information Center.
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
What does it mean if a disorder seems to run in my family?
What are the different ways in which a genetic condition can be inherited?
If a genetic disorder runs in my family, what are the chances that my children will have the condition?
Why are some genetic conditions more common in particular ethnic groups?
These links provide additional genetics resources that may be useful.
Genetics and Health
Resources for Patients and Families
Resources for Health Professionals
http://ghr.nlm.nih.gov/condition/hereditary-sensory-neuropathy-type-ia
Today's post from washingtonpost.com (see link below) is possibly controversial in that it paints a portrait of chronic pain and its sufferers that some may disagree with but if it gets people talking about what chronic pain really is, then it's a useful article. Neuropathy patients are very well qualified to contribute to the discussion and will recognise themselves in several parts of this article. Basically, it attempts to explain what chronic pain is and how that is very different to pain that goes away after the cause has been cured. Chronic pain carries long-term effects that are often underestimated by both doctors and those close to the patient and treatment needs to be carefully targeted and holistic to achieve the best results.
Chronic pain not only hurts, it also causes isolation and depression. But there’s hope. By Rachel Noble Benner January 12, 2015
Chronic pain affects more people than cancer, diabetes, heart attack and stroke combined. The Institute of Medicine estimates there are more than 100 million sufferers in the United States, costing the nation as much as $635 billion a year in medical treatment and lost productivity.
It’s even the focus of a new movie: “Cake,” starring Jennifer Anniston as a woman struggling with chronic pain, is scheduled for release Jan. 23. In the new film “Cake,” Jennifer Aniston plays a woman with chronic pain, a condition that is often accompanied by depression. (AP)
Chronic pain can be devastating, and a challenge to treat. As a mental health counselor, I have seen it damage productive lives and tear families apart.
Pain sufferers often are misdiagnosed, misunderstood and miserable. Their friends and family can become worn out from listening to complaints. Their identities may be significantly altered because they cannot engage in activities they once enjoyed. Doctors get frustrated by the inability to provide a cure.
I have worked with people who had full, rich lives as corporate leaders, mothers, athletes and professors before their chronic pain. However, by the time I saw them they were isolated, overmedicated and depressed, and they believed their life was devoid of meaning.
The good news is that chronic pain is treatable with the right blend of approaches. The traditional healing model — take medications, rest, get better — doesn’t work with this illness. But there are ways to reduce pain and rebuild yourself.
I worked with one client who lived with chronic pain for more than 15 years. He was a pilot before his illness. When I met him, he was taking copious amounts of pain medications, but all were useless. The drugs simply made his pain worse while clouding both his mind and mood.
He lived in his easy chair in front of the television. He watched the clock, praying for relief and waiting for his next dose. His three adult children never visited because they were tired of his constant irritability and complaining. When I asked about his goals, he said, “I want to mow my lawn again,” with tears in his eyes. After eight months of physical therapy, counseling and weaning off addictive medications, he was able to achieve this everyday task and much more.
Usually, people feel acute pain after an illness or injury. If pain lasts beyond the time it takes to heal, or longer than 12 weeks, it’s considered chronic. Michael Clark, a psychiatrist and director of the pain treatment program at Johns Hopkins Hospital, explains the underlying neurobiology: “The disease of chronic pain is more than just acute pain that lasts longer. It has greater intensity, causes impaired function and can migrate beyond the original pain site. The nervous system becomes distorted. Pain receptors get amplified and internal pain blockers minimized, which can make even the lightest touch be perceived as painful.”
Individuals may work with many medical specialists to find help even as relief remains elusive because they focus only on the pain symptoms.
“Chronic pain is not simply a single symptom or a straightforward experience like acute pain,” Clark says.
Chronic pain frequently is accompanied by depression, which can include fatigue, anxiety and changes in mood, appetite and sleep. Sufferers have some of the lowest reported quality-of-life levels among people with major illnesses. Pain combined with depression can hold sufferers back from engaging in life, which may lead to damaged relationships and loss of employment.
“In my practice, I routinely see clients who have suffered from chronic pain for many years. This can result in isolating behavior — especially toward spouses and immediate family members,” says Melissa Delgado, a gynecologist and obstetrician in Vienna, Va., who specializes in treating women with chronic pelvic pain.
“Approximately one-third to three-quarters of people with chronic pain experience moderate to severe depression,” Clark says. “Patients with depression experience increased pain because of overlap in the two affected systems: pain reception and mood regulation. Both depression and chronic pain share some of the same neurotransmitters and nerve pathways. So pain is worse, function is poor, response to pain treatment is diminished and their prognosis is worse until they can get their depression under better control.”
Antidepressant medication can provide considerable relief for some. I have seen amazing improvements in clients who focus on treating their depression in addition to pain reduction.
One woman wanted to have her legs amputated because of the interminable, horrific pain, but once her depression was properly managed, her pain diminished. She wasn’t 100 percent pain-free, but it was manageable. I remember her overwhelming joy when she went with her husband to a concert for the first time since the onset of pain more than six years before. They danced in the aisles.
Another well-understood contributor to chronic pain is the extended use of strong, addictive medications such as opioids and benzodiazepines such as Percocet and Valium. If they are taken over many years, they can make pain significantly worse.
These medications block the transmission of pain from the site to the brain, so over time nerves send stronger pain signals. It’s as though the nerves turn up the volume to help the brain hear the pain. Higher doses of medication are required to block the louder signals. Pain receptors and processors get so distorted that eventually most stimuli are perceived as pain and these medications no longer work. Additionally, these drugs blur thinking, depress mood and encourage isolating behavior.
“Physicians should take a holistic approach and not just focus on individual symptoms,” Delgado says. “Chronic pain is a complex and debilitating disease, and as a result, we need the multidisciplinary approach to address the whole person.” Medical doctors, counselors and physical therapists all add valuable pieces to solving the chronic pain puzzle.
An experienced chronic pain doctor can safely transition someone off addictive and ineffective medications and onto useful pharmaceutical combinations. Physical therapy is also needed, to reactivate injured bodies and reset a hyper-excited nervous system. Careful exercise will teach damaged nerves the difference between normal and harmful sensations. Counseling helps a person find strengths, adjust expectations, manage anxiety, rebuild identity, practice relaxation techniques and repair relationships.
My pilot client, who was grateful to be able to take care of his lawn again, labored through each of these challenging tasks over approximately eight months. Today, he continues to work with a counselor, physical therapist and support group.
The National Institutes of Health has found that individuals who take proactive steps toward managing their pain often find relief regardless of the underlying cause. Helpful actions include engaging in problem-solving, avoiding isolating behaviors, improving communication, embracing physical therapy and working with a counselor to help reframe an illness.
Chronic pain sufferers also need to incorporate structure, activities, socialization, purpose and meaning into each day of their lives. Research studies show that involvement in a meaningful activity or organization greatly improves well-being and happiness.
Benner is a mental health counselor in Bethesda.
http://www.washingtonpost.com/national/health-science/chronic-pain-not-only-hurts-it-also-causes-isolation-and-depression-but-theres-hope/2015/01/12/db576178-7fe7-11e4-81fd-8c4814dfa9d7_story.html
