(Darden has looked high and low to find ways to understand and treat her ME/CFS/FM, and, if she’s not healthy now, she’s still been able to improve her health substantially. Recently a diagnosis of a Ehler’s Danlos Syndrome – a lesser known disease that often overlaps with chronic fatigue syndrome (ME/CFS) and fibromyalgia (FM) – helped her fill in some more blanks.  Thanks to Darden for allowing Health Rising to republish her blog on getting a diagnosis of Ehlers-Danlos Syndrome and what it’s meant for her search for health. (Images and headings added…CJ )

Ehler-Danlos Syndrome (EDS)

“Ehlers-Danlos Syndrome isn’t rare – it’s just rarely diagnosed” Jan Groh

It took me forty-three and a half years to get a diagnosis of EDS hypermobility type.

Ehlers-Danlos Syndrome (EDS) is a genetic connective tissue disorder caused by structural deficiencies in collagen, the most abundant protein in the human body. All the tissues of the body including ligaments, bones, tendons, muscles, skin, blood vessels, gums, eyes and large organs rely on collagen for their strength and flexibility.

Symptoms

Darden’s first diagnosis – Chronic Fatigue Syndrome AKA Myalgic Encephalomyelitis

In EDS collagen is altered by a genetic defect or mutation that allows tissue to be pulled beyond normal limits resulting in systemic weakness and instability. The most common form of EDS is called EDS hypermobility type.

The problems resulting from a body built with defective collagen are widespread and variable.  Persons with EDS Hypermobility often exhibit symptoms of dysautonomia, a dysfunction of the autonomic nervous system, which regulates unconscious organ function including heart rate, blood pressure, temperature, respiration and digestion. Chronic pain, sleep disorders and fatigue are common in persons with EDS Hypermobility.

Structural abnormalities of the gastrointestinal track are also common, resulting in a variety of conditions including Irritable Bowel Syndrome. Chronic recurrent headaches and eyestrain are also common, as a result of abnormal intracranial pressure and enlargement of the dura, a membrane of fluid surrounding the brain and spinal column. Patients frequently suffer from allergies and sensitivities.

Chronic Fatigue Syndrome (ME/CFS)

Officially my health condition, which has affected multiple systems over the decades, was undiagnosed. However, my symptoms had a lot in common with what is now called Chronic Fatigue Syndrome. At the beginning of my illness I had severe headaches, eyestrain and fatigue and significant gum recession.

Fibromyalgia

Twenty-eight years into my illness I developed chronic muscle pain after any type of physical exertion that sometimes escalated to full body pain, which I suspected was fibromyalgia. About five years ago I listened to a lecture on the Internet given by Dr. Byron Hyde, a Canadian physician and researcher for CFS and ME at Nightingale Research Foundation, who said that there was a subset of patients with fibromyalgia who had Ehlers-Danlos Syndrome and one way to ascertain this was if the patient could touch their nose with their tongue.

fibromyalgia

Fibromyalgia was next

Since I can do this I was curious about this possibility. However, my primary physician immediately dismissed this as did a cardiologist and a rheumatologist because I do not have any overt symptoms of joint hyper mobility or hyper elastic skin. My elongated tongue had caused some of my chronic fatigue symptoms which were relieved by doing Oral Systemic Balance, a system that employs oral appliances to address restrictions of the air passage due to the anatomy of the tongue and mouth.

Imbalances between the sides of my heart and the size and position of the atrium and ventricle were observed by my OSB dentist Dr. Farrand Robson on heart ultra sound equipment. Robson uses heart ultrasound to get feedback on the adjustments of his patients’ oral appliances. I suspected that the irregularities Robson observed as well as my low blood pressure and pulse were due to the hyper elasticity of the connective tissue in my heart.

Small Intestine Bacterial Overgrowth (SIBO)

Two years ago I was diagnosed with Small Intestine Bacterial Overgrowth (SIBO) and started treatment under the supervision of Dr. Melanie Keller, a naturopathic physician who specializes in this disorder. Dr. Keller told me that she had several patients with similar presentations of SIBO who had been diagnosed with EDS. The gastrointestinal tract is primarily made up of connective tissue and persons with EDS often have problems with gut motility that can lead to IBS and SIBO.

SIBO

Then SIBO

I knew that my colon was elongated because when I had a colonoscopy the exam could not be completed due to the unusual fact that the examiners ran out of scope.

Furthermore I discovered that I had low amounts of serotonin and DAO – two things that are produced in the gastrointestinal tract. I suspect that this is due to the altered environment of the connective tissue in the colon. Supplementing for these things by taking 5HTP and HIST DAO (diamine oxidase enzyme) has improved my health. Low levels of DAO contribute to a condition called Histamine Intolerance (DAO is the enzyme that breaks down histamine in foods).

Mast Cell Activation Syndrome (MCAS)

The nutritionist I consulted about this condition suspected that I had some kind of mast cell disorder. This was positively diagnosed by blood tests that showed elevated levels of tryptase. When researching Mast Cell Activation Syndrome (MCAS) I discovered from Jan Groh, chapter coordinator of the Pacific Northwest Mast Cell Support group that EDS and MCAS are overlapping conditions.

Groh is the author of a blog which has a lot of information about EDS hypermobility type and its comorbidities Mast Cell Activation and POTS. She is convinced that most people with EDS are getting diagnosed with fibromyalgia. She says “Ehlers-Danlos Syndrome isn’t rare – it’s just rarely diagnosed.”

Ehlers Danlos Syndrome

In March of 2016 I went to see Dr. Osvaldo Schirripa at the Central Oregon Clinical Genetics Center in Bend, Oregon. Dr. Schirripa is a geneticist with a background in pathology and is one of the few experts in EDS in my region of the country. My appointment with Schirripa lasted four hours and consisted of physical evaluation, a detailed family history and review of symptoms.

Dr. Schirripa was the first and only physician of the countless number that I have consulted over the past four decades who was not mystified by my diverse symptoms and health history. He diagnosed me with EDS hypermobility type. Based on his evaluation he gave me a 7 seven out of 9 nine points on the Beighton scale. I think that he was pretty lenient on this scale as some of things I could only do slightly with the exception of being able to bend forward with straight legs and place my palms flat on the floor.

Pocinki

Dr. Pocinki, an ME/CFS/FM doctor checking a patient for EDS.

Physical evaluation was also made on the smooth texture of my skin, pronounced gum recession and low blood pressure. Dr. Schirripa said that I was “highly functioning” for someone with my health condition, which I attribute to the effective ways I have found to manage and in some cases reverse my symptoms.

He mentioned a couple of things that were of significance to me. He said that people with EDS are often intolerant of drugs, having adverse reactions or reactions opposite to what the drug is intended for. This is definitely true for me. He said this is due to an extremely rapid phase one liver detoxification. This was found in several past liver detoxification laboratory tests I did that measure caffeine clearance.

“ there was most likely nothing wrong with my muscles (I know this from extensive testing with a neurologist). Rather, my muscles are working extra hard to protect hypermobile joints.” Darden

Another interesting thing that Schirripa discussed was the fact that there was most likely nothing wrong with my muscles (I know this from extensive testing with a neurologist). Rather, my muscles are working extra hard to protect hypermobile joints. I had suspected that my muscle condition (fibromyalgia?) was some kind of stress induced protective response so this made sense to me.

Schirripa reported that for many of his patients this muscle condition began suddenly and some patients reported that it began with a vibration. This was the case for me.  Dr. Schirripa looked at my sleep study, showing fragmented sleep with interruptions accompanied by spikes in my pulse. He said this was a typical sleep pattern of persons with dysautonomia. (The several sleep specialists I consulted about my study did not identify this pattern as such, and basically had no explanation for my disturbed sleep.)

Although Dr. Schirripa is primarily a diagnostician I asked him if there were any particular supplements or treatments that he recommended. He said that everyone is different however some of his patients have been helped by large doses of COQ10 (2,000 mg.) a day. Schirripa thinks that the emphasis on hypermobility in the diagnosis and understanding of EDS hypermobility type is not comprehensive enough. His preference would be to call it a “multisystem spectrum disorder”.

The Driscoll Hypothesis

Last January I read an interview on Yasimina Yklenstam’s blog with Diana Driscoll called “Vagus Nerve Stimulation and POTS/Mast Cell Activation”.  Driscoll is an optometrist who has EDS, POTS and MCAS and has proposed a theory on how these are related to intracranial pressure and abnormal vagus nerve functioning.

As an optometrist she learned how to identify in eye examinations abnormal patterns in the optic nerve and blood vessels of POTS patients. From her experiments in treating her own health problems she suspected that patients with these disorders have low levels of acetylcholine. Supplementing for this made a huge improvement in her health and the health of her children who also suffer from similar disorders.

Driscoll developed a supplement called “Parasym Plus”, which is supposed to address a low functioning parasympathetic nervous system. It contains alpha-glyceryl phosphoryl choline, acetyl L-carnitine, hyperzia and thiamin. I tried the supplement and had a bad reaction. The problem with multi-ingredient supplement formulas, which I generally avoid, is that if you have a bad reaction you don’t know what ingredient you are reacting to.

Vagus-NerveI then tried taking phosphadityl choline, another substance that boosts acetylcholine and is good for liver function. I had a great response. Both my chiropractor and physical therapist are amazed at the softening of my muscles in the back of my head and spine and my sleep has improved.

Driscoll also developed a supplement called Soothing Digestive Aid for Vagus Nerve Support, which contains apple cider vinegar and ginger root (two things that are easy to buy separately and I take as part of my treatment for Small Intestine Bacterial Overgrowth), and a supplement that contains digestive enzymes. Although I do not entirely agree with Driscoll’s theory, (I think that activation of the vagus nerve is secondary) her discovery of the benefits of treating low levels of acetylcholine in patients with CFS/FMS/EDS/POTS is important. For more information on Driscoll’s theory and treatment go here.

The symptoms of EDS hypermoblity are virtually indistinguishable from those of Chronic Fatigue and Fibromylagia Syndromes especially when one takes into account that its presentation is variable from person to person.  I recall several years ago when I saw Dr. Andrew Holman, a rheumatologist and leading researcher in fibromyalgia, that he mentioned to me that many of his fibromyalgia patients were very flexible.

Dr. Sharon Megalathery, a physician with MCAS, POST, CFS and POTS has a theory of how these and other overlapping syndromes may be connected to a set of gene mutations. She and her colleague Dr. Karen Herbst have set up a non-profit corporation to fund research on this here .

The diagnosis of EDS hypermobility type has lead me to connect some more dots in my health condition. I do not think, however, that finding this out earlier would have significantly changed the course of my search for effective treatments. Until a definitive laboratory test is available to test for a genetic defect in collagen in EDS hypermobility type, the diagnosis is in my opinion still theoretical.  Meanwhile, as a patient my most productive path is to find ways to manage my unique variation of this multifaceted disorder and to share my stories of successes and failures with others.

More on Ehlers Danlos Syndrome

Diagnosis is made by physical evaluation, family history and symptoms. Laboratory testing for EDS hypermobility type is unavailable as the genes involved have not been completely identified. The condition overlaps with Mast Cell Activation Syndrome (MCAS);  Postural Orthostatic Tachycardia Syndrome (POTS) and neurally mediated hypotension (NMH); Chronic Fatigue and Fibromyalgia Syndromes.

Few physicians specialize in EDS, and diagnosis is most frequently made by a geneticist. The most common sign of EDS Hypermobility is an unusually large range of joint movement. This is diagnosed by receiving a score of five or more on the Beighton scale.

The points are as follows:

  • one point if while standing forward bending you can place palms on the ground with legs straight
  • one point for each elbow that bends backwards
  • one point for each knee that bends backwards
  • one point for each thumb that touches the forearm when bent backwards
  • one point for each little finger that bends backwards beyond 90 degrees.

Another major criteria for EDS is soft or velvety skin with normal or slightly increased extensibility (stretchiness).

Minor diagnostic criteria include recurrent joint dislocations, chronic joint and muscle pain, easy bruising, irritable bowel syndrome (IBS), neurally mediated hypotension (NMH) or postural orthostatic tachycardia (POTS), high narrow palate with dental crowding, and gum recession.

Family history of similar features is also an important criteria in the diagnosis. EDS hypermobility is inherited in an autosomal dominant manner meaning that a mutated dominant non sex gene has been passed to the affected person by the parent and that there is a 50 percent chance of a parent passing on the dominant gene to his or her offspring.

An excellent article on EHS hypermobility type authored by Marco Castori can be found on PubMed Central 

There is no medical treatment or cure for EDS hypermobility. The Ehlers-Danlos National Foundation website has some good information about the disorder and lists some management recommendations.

Strategies for improving muscular skeletal symptoms include minimizing joint impact, hyperextenision and resistance exercise; avoiding excess body weight; wearing shoes with arch and heel support; doing low resistance muscle toning exercises to help stabilize joints; myofascial release type therapies to reduce muscle pain; using supportive mattress and a pillow that keeps head in a neutral position while sleeping; and using fat-grip writing utensils.

Gastrointestinal symptoms can improve by treating IBS. Frequent brushing with soft bristles and flossing can help with periodontal disease. Dental appliances can help with TMJ pain. Maintaining adequate hydration and salt intake is important. A dental exam and cleaning twice a year and an echocardiograph exam to check for heart abnormalities are recommended.

EDS is considered a rare disorder but this is most likely because it is under-diagnosed. Physicians are most familiar with the classical type of EDS, which manifests itself in hyper flexible joints and hyper elastic skin. The diagnosis of EDS hypermobility type is much more difficult because the outward manifestations are more subtle.

The Beighton Score uses a small number of joints and is meant to be a general guide. Some patients may not score high on the prescribed joints but be hyper-mobile in other places such as the spinal cord, hips or shoulders. Also some patients may be flexible as children but become less flexible over time due to injuries. A physician has to be very familiar with the disorder and look at the whole picture of the patient to make the diagnosis.

 

 

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