It seems that a lot of people I know with M.E are being diagnosed with Ehlers Danlos Syndrome and a lot of people are coming to me asking if they can have both diseases at the same time and if being diagnosed with one means they don’t have the other and how to tell the symptoms of one as a pose to another, so I thought I would write this blog in the hope that some of these issues are made clearer.
M.E (short for Myalgic Encephalomyelitis) is classed as a Neurological Disease by the World Health Organisation. It is an illness generally precipitated by viral infection and can manifest into neurological symptoms although patients can go as long as two years with only the viral symptoms and no manifestation of any neurological damage. EDS on the other hand is an inherited genetic connective tissue disorder.
World-renowned EDS expert, rheumatologist Professor Rodney Grahame (University College London) points out that, in America, almost 650,000 cases of Ehlers-Danlos Syndrome (EDS) are missed ANNUALLY, based on studies that suggest almost 95% of cases presenting to clinics are missed, most often diagnosed with other things (Fibro/ME/csf, POTS/OI etc.).
The following is taken from the Ehlers Danlos National Foundation:-
|What is EDS?|
|Individuals with EDS have a defect in their connective tissue, the tissue that provides support to many body parts such as the skin, muscles and ligaments. The fragile skin and unstable joints found in EDS are the result of faulty collagen. Collagen is a protein, which acts as a “glue” in the body, adding strength and elasticity to connective tissue.
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders, characterized by articular (joint) hypermobility, skin extensibility and tissue fragility. There are six major types of EDS. The different types of EDS are classified according to their manifestations of signs and symptoms. Each type of EDS is a distinct disorder that “runs true” in a family. This means that an individual with Vascular Type EDS will not have a child with Classical Type EDS.
What are the symptoms of EDS?
Clinical manifestations of EDS are most often joint and skin related and may include:
Joints: joint hypermobility; loose/unstable joints which are prone to frequent dislocations and/or subluxations; joint pain; hyperextensible joints (they move beyond the joint’s normal range); early onset of osteoarthritis.
Skin: soft velvety-like skin; variable skin hyper-extensibility; fragile skin that tears or bruises easily (bruising may be severe); severe scarring; slow and poor wound healing; development of molluscoid pseudo tumors (fleshy lesions associated with scars over pressure areas).
Miscellaneous/Less Common: chronic, early onset, debilitating musculoskeletal pain (usually associated with the Hypermobility Type); arterial/intestinal/uterine fragility or rupture (usually associated with the Vascular Type); Scoliosis at birth and scleral fragility (associated with the Kyphoscoliosis Type); poor muscle tone (associated with the Arthrochalasia Type); mitral valve prolapse; and gum disease.
What are the types of EDS?
There are six major types of EDS. The different types of EDS are classified according to the signs and symptoms that are manifested. Each type of EDS is a distinct disorder that “runs true” in a family. An individual with Vascular Type EDS will not have a child with Classical Type EDS. Learn more about the different types of EDS.
How is EDS diagnosed?
The categorization of the Ehlers-Danlos syndromes began in the late 1960s and was formalized in the Berlin nosology. Over time, it became apparent that the diagnostic criteria established and published in 1988 did not discriminate adequately between the different types of the Ehlers-Danlos syndrome or between the Ehlers-Danlos syndrome and other phenotypically related conditions. In 1997, a revised nosology was written in Villefranche that redefined the types of EDS. Learn more about the EDS nosology and how EDS is diagnosed.
How prevalent is EDS?
At this time, research statistics of EDS show the prevalence as 1 in 2,500 to 1 in 5,000. It is known to affect both males and females of all racial and ethnic backgrounds.
How is EDS inherited?
The two known inheritance patterns for EDS include autosomal dominant and autosomal recessive. Specifics regarding genetic inheritance may be found by following the link below. Regardless of the inheritance pattern, we have no choice in which genes we pass on to our children. Read more about hereditary patterns.
What is the prognosis of someone with EDS?
The prognosis of EDS depends on the specific type. Life expectancy can be shortened with the Vascular Type of EDS due to the possibility of organ and vessel rupture. Life expectancy is usually not affected in the other types.
What can I do now?
The defining trait of those affected by EDS is the search for information. The rise in Internet usage has delivered a significant benefit to families affected by EDS. EDNF members are sharing information on-line and learning from each other in ways that were impossible nogt very long ago. Visit EDNF’s Facebook page, the EDNF Inspire Online Community, or look through the various EDNF publications available through the EDS Guides menu on the left hand side of this page.
FOR MORE IN DEPTH SYMPTOMS PLEASE SEE THIS LEAFLET HERE http://www.ednf.org/images/stories/leaflets/soyouthinkyoumighthaveeds.pdf
Most EDS patients are diagnosed by a rheumatologist, although the correct way to diagnose is through a geneticist which is commonplace in the United States but in the UK it is a condition that is very under looked by the NHS although Dr Hakim and the HMSA are working with NICE and Clinical Commissioning Groups to change this.
EDS is diagnosed using the “Beighton Scale”, which I will hold up for you now.
Now – back to the topic in hand, how do you know if you have ME, EDS or both?
Well the main way to tell is how you feel.
I’ve had EDS all my life and but I didn’t realise until 2010. It explains a lot of my problems growing up and general things that I could never put my finger on.
I’ve always had a problem with my knees. I could never run properly and my knees would buckle and my legs would sort of splay out to the sides, like Phoebe running in Friends! I was teased about it at school but instead of the school recommending I see a doctor, they made me run and work even harder which is damaging to someone with EDS.
I remember when my friends and I used to go to festivals, whilst carrying bags and tents from the car, they would be fine while I was in agony. And when we used to walk into town which was a good mile and a half walk, I would never be able to keep up and I would be exhausted on return. In fact everything used to affect me. I would get more hung over than everyone else, I would ache and be more tired that everyone else, I couldn’t jump up and down in the crowd. But I never thought much of it, I just thought I was weak and stupid.
I’ve always had problems with my back as well, lots of spinal pain and what I thought was knotted muscles in the shoulders but was actually the start of scoliosis.
EDS never actually made me ill though. Yes I would tire easily and not be able to carry things but it wasn’t until I got shingles that I got ill ill.
I’ve always been ill, all my life. I’ve had recurrent infections in the gut as a young girl which hospitalised me on numerous occasions, ear infections that would get so bad I would need to go into hospital to have them drained, and constant viral infections as a young adult and I was ALWAYS sick. On a night out with friends you could pretty much guarantee I would be sick! Even though I was always sick, I never actually felt like I had an ‘illness’ as such until I got ME – that hit me like a ton of bricks.
By the time I had got the Shingles in October 2007, the EDS had started to take hold a bit more. I could no longer carry bags without a great deal of pain and walking was getting harder. People at work used to complain about the way I walked up the stairs and how I always tried to get out of walking anywhere. They thought I was lazy and a shirker and to be honest, I thought the same. The fatigue was getting worse, at the end of the day I just wanted to sleep and my shoulders permanently ached but I still went out at weekends and had fun.
Then the ME hit and it was “bye bye” life as I knew it. None of the new symptoms I got were anything to do with the problems I’d had all my life.
After my first bout of shingles I generally felt weak and fluey day to day but I would have episodes of raging fevers and viral symptoms. I would lie in bed with a fever of 100 shaking and shivering, unable to move. I would vomit and just be so ill I would have to call in sick from work. Then after a few days the mysterious symptoms would disappear. Then they would come back again, the shingles rash would sometimes come back out, sometimes it wouldn’t. Now I realise I was infected with varicella, HHV6 and EBV but at the time I was scared witless and just thought I wasn’t exercising enough and was lazy and unfit so I joined a gym. I struggled, I really struggled. I would drag myself to the gym after work with a fever and a few days later the mysterious viral episodes would appear again. The sicker I got, the harder I pushed until I could push no more and I collapsed. I went to see a private doctor in London, in desperation and he said “what the hell are you doing exercising get out of London, go home”. So I did. My dad scooped me up, I sold my flat and was never well again.
I suffer with viral like symptoms every day – none of which are associated with EDS. In fact there is no research to link EDS with viral infection whatsoever, feel free to correct me if I am wrong.
I was later diagnosed with low NK cell function, hypergammagloublina, IgG subclass deficiency. Again, none of these immune system diseases are a part of the EDS diagnosis but they are commonplace in ME.
So how many people have been told they do not have ME, they have EDS and are suffering the same symptoms as me? Chances are you have both.
Primary M.E. is an acute onset biphasic epidemic or endemic (sporadic) infectious disease process, where there is always a measurable and persistent diffuse vascular injury of the CNS in both the acute and chronic phases. Primary M.E. is associated with immune and other pathologies.
(The Nightengale ME Definition) Ehlers-Danlos Syndromes Group: This is a group of
illnesses with a genetic predisposition to M.E. or M.E.- like illness. In fact it probably represents a spectrum of illnesses that start with (i) hyper-reﬂexia syndrome, moving through any of the (ii) various Ehlers-Danlos Syndromes and climaxing in (iii) Marfan Syndrome where there tends to be early death if the aortic and cardiac changes are not repaired. Ehlers-Danlos syndromes can go undetected until what appears to be a switch is turned on, usually in late teens to early thirties. The “switch” may be viral or possibly age or hormonal related. Raynaud’s phenomenon is usually associated. Diagnosis: Brieﬂy, patients over the age of 16 who can (i) touch their nose with their tongue, Byron Marshall Hyde MD
(ii) touch their forearm with the thumb of the same extremity (joint laxity), (iii) touch the ﬂ oor readily with the full palm should be considered suspect for further examination. There are several fascination variations of Ehlers-Danlos. They are generally considered to be a group of genetic illnesses but in my examination of M.E. patients most often are not manifested until well past puberty and in adulthood. Additional generalized features of this spectrum of illnesses include (v) India rubber or hyperelastic skin, (vi) easy bruisability (vascular fragility), (vii) Arachnodactyly (long spiderlike ﬁ ngers). Many of the patients with a more severe form tend to be tall, slender with a dolidolichocephalic skull, high palate and long narrow feet with hammertoes verging on Marfan syndrome. (See Magalini, S. I., Magalini S. C. for both E-D Syndrome and Marfan 1 and Marfanoid hypermobility.)
A study done by John Hopkins University found that Among patients with CFS and orthostatic intolerance, a subset also has EDS. We propose that the occurrence of these syndromes together can be attributed to the abnormal connective tissue in dependent blood vessels of those with EDS, which permits veins to distend excessively in response to ordinary hydrostatic pressures. This in turn leads to increased venous pooling and its hemodynamic and symptomatic consequences. These observations suggest that a careful search for hypermobility and connective tissue abnormalities should be part of the evaluation of patients with CFS and orthostatic intolerance syndromes.
So was I genetically predisposed to have ME all along, because of having EDS?
This article is by Alan Pocinki at George Washington University Hospital.
By Alan Pocinki, MD
George Washington University Hospital
Joint laxity, or hypermobility, is a common feature of chronic fatigue syndrome (CFS). In fact, I believe that it is a characteristic feature of CFS. Peter Rowe and his colleagues at Johns Hopkins first reported the association of CFS with orthostatic intolerance and joint hypermobility in 1999 , and since then, I have not seen a single CFS patient who was not hypermobile, not one. Most hypermobile patients don’t look sick and, as a result, friends, colleagues and even doctors can be unsympathetic. Furthermore, they may spend years unsuccessfully searching for the cause of their chronic pain and other symptoms because many doctors are unfamiliar with hypermobility syndrome and its complex set of symptoms. Sound familiar?
The Beighton score is used to measure a person’s degree of hypermobility. One point is assigned for the ability to accomplish each of the following movements:
- bending your fifth finger back further than 90 degrees (1 point each side);
- bending your thumb forward to touch your forearm (1 point each side);
- hyper-extending your elbows and knees, that is, bending them beyond a straight line (1 point each joint, each side); and
- putting your palms flat on the floor without bending your knees (1 point).
Dr Pocinki states that by treating the EDS symptoms, pain, sleep, fatigue etc, the CFS problems will go away but that is going by the gross assumption that CFS is merely FATIGUE when it is much more than that.
Yes I have always been more tired than the average individual but the tiredness associated with ME is not tiredness, nor is it fatigue. As Laura Hillenbrand, author of “Sea biscuit” once said, this illness to fatigue is like a nuclear bomb is to a match”. It is more like total body obliteration. The slightest of movements feels like climbing a mountain. The smallest of tasks are unachievable. The more severe patients have seizures when they try to exert themselves. Your body feels heavy and pulsated in pain. You can feel every gland, every lymph node, your body desperately trying to rid itself of the infections that got it in this state but it can’t, it is too weak.
The following is taken from Stanford Universities Website:-
At Stanford, we believe that a subset of cases of Chronic Fatigue Syndrome (CFS) may be related to infection. The nature of the association is still unknown, but we use two possible hypotheses in our research. One hypothesis is that the symptoms of CFS could be triggered by the persistent activity of a pathogen (for example, a bacteria or virus) in the patient. However, the second hypothesis is that the symptoms of CFS may be caused not by the pathogen itself, but rather by the body’s immune response to the pathogen.
Clinical, scientific and epidemiological observations made by several research groups, including our own, have led to the development of these hypotheses. From an epidemiological perspective, it has been known for many years that the onset of CFS is often acute and preceded by a viral or infection-like illness. Work led by Andrew Lloyd in Dubbo, Australia confirmed that the onset of CFS in some patients is marked by acute infection. Lloyd and his research team looked at acute infections of Epstein-Barr virus (glandular fever), Coxiella burnetii (Q fever), or Ross River virus (epidemic polyarthritis) in 253 patients. They found that six months after the acute infection, 11% of the patients developed CFS.1 This study demonstrates that in Australia, a number of patients developed CFS following an acute infection.
John Chia, MD, infectious disease specialist, has reported numerous findings that suggest an association between CFS and infection with enteroviruses. It has been observed that CFS patients commonly suffer from gastrointestinal complaints, and that between 35-92% of CFS patients have irritable bowel syndrome2. Chia has observed, “80-90% of our 1400 CFS patients have recurring gastrointestinal symptoms of varying severity… compared to only 3/100 controls.”3
In a recent study, Chia’s group found enterovirus VP1 protein in 82% of stomach biopsy samples of CFS patients, which “seems to correlate with the high percentage of CFS patients with GI complaints.” Additionally, “enteroviral protein was detected in the initial stomach biopsy specimens of six patients who developed GI infection before the onset of CFS, and also in biopsy specimens taken years later when the patients had persistent GI symptoms and fatigue.”3
“This finding suggests that enterovirus infection initiated GI symptoms and CFS, and the persistence of the virus years later likely was responsible for the patient’s symptoms.”3 Chia’s clinical observations and research thus suggest a strong association between enteroviral persistence/infection and CFS.
Additionally, A. Martin Lerner, MD, president of the Treatment Center for CFS, has reported in several publications that long-term antiviral treatment of a subgroup of CFS patients identified by different markers for herpesviruses have resulted in significant clinical improvement of their CFS related symptoms.4
In summary, it is plausible that the persistent activity of intracellular pathogens or the immune response against them could lead to the complex and chronic dysfunction observed in patients with CFS. Furthermore, it is possible that if the infectious trigger is appropriately identified, significant clinical benefit can be observed with appropriate long-term antimicrobial therapy.
The Ehlers-Danlos family of disorders is a group of related conditions that share a common decrease in the tensile strength and integrity of the skin, joints, and other connective tissues.
In 1993, Beighton discussed the history of Ehlers-Danlos syndrome (EDS), beginning with a description of it in the fourth century BC. The first detailed clinical description of the syndrome is attributed to Tschernogobow in 1892. The syndrome derives its name from reports by Edward Ehlers, a Danish dermatologist, in 1901 and by Henri-Alexandre Danlos, a French physician with expertise in chemistry of skin disorders, in 1908. These 2 physicians combined the pertinent features of the condition and accurately delineated the phenotype of this group of disorders.
The amazing, almost unnatural, contortions that some patients with Ehlers-Danlos syndrome can perform often arouse curiosity. Historically, some patients with Ehlers-Danlos syndrome displayed the maneuvers publically in circuses, shows, and performance tours. Some achieved modest degrees of fame and bore titles such as “The India Rubber Man,” “The Elastic Lady,” and “The Human Pretzel.” Such clinical features also raise suspicion of the diagnosis when identified upon physical examination. Unfortunately, patients often go many years before being diagnosed.
- Ehlers-Danlos syndrome type I (OMIM #130000, autosomal dominant): Distinguishing features include easy bruising, mitral valve prolapse, premature rupture of the fetal membranes, and premature birth.
- Ehlers-Danlos syndrome type II (OMIM #130010, autosomal dominant): This phenotype is similar to type 1, but the effects are milder.
- Ehlers-Danlos syndrome type III (OMIM #130020, autosomal dominant): Features include striking joint hypermobility and minimal skin changes.
- Ehlers-Danlos syndrome type IV (OMIM #130050, autosomal dominant): Type IV is the vascular/ecchymotic form. Patients with type IV Ehlers-Danlos syndrome have prominent venous markings, which are readily visible through the skin. Diagnostically, this type is most important because patients are subject to spontaneous rupture of the bowel, medium-sized arteries, or both. Often, rupture leads to early death. Median life expectancy in these patients is 45-50 years.
- Ehlers-Danlos syndrome type V (OMIM #305200, X-linked recessive): This phenotype is similar to, if not indistinguishable from, type 2; however, in familial cases, type V exhibits X-linked recessive inheritance.
- Ehlers-Danlos syndrome type VI (OMIM #225400, autosomal recessive): Patients may present with retinal detachments, microcornea, myopia, and scoliosis. Differentiating hypermobility from neuromuscular hypotonia in these patients may be difficult.
- Ehlers-Danlos syndrome type VII (OMIM #130060, types VIIA and VIIB, autosomal dominant; OMIM #225410, type VIIC, autosomal recessive): Patients exhibit arthrochalasis multiplex congenita (hyperflaccidity of the joints without hyperelasticity of the skin), short stature, and micrognathia. Multiple congenital skull fractures have been reported in Ehlers-Danlos syndrome type VIIC.[11, 12]
- Ehlers-Danlos syndrome type VIII (OMIM #130080, autosomal dominant): In addition to the other notable features, patients with type VIII Ehlers-Danlos syndrome have multiple skin striae and significant dental problems, including early tooth loss, periodontitis, and alveolar bone loss.
- Ehlers-Danlos syndrome type IX (OMIM #304150, X-linked recessive): Features include occipital exostoses, bladder diverticula or rupture, bony dysplasias, and decreased copper and ceruloplasmin. Ehlers-Danlos syndrome type IX is no longer a subtype. Once the gene was identified, type IX was removed from the Ehlers-Danlos syndrome classification. The gene is related to a condition termed cutis laxa or occipital horn syndrome (see Causes).
- Ehlers-Danlos syndrome type X (OMIM #225310, autosomal recessive): Patients exhibit poor wound healing, petechiae, and a platelet aggregation defect, which can be corrected with fibronectin supplementation.
A condition that appears to go hand in hand with EDS and is presented in a subset of ME/CFS patients is called POTS (short for Postural Orthostatic Tachycardia Syndrome).
There is a great charity called STARS where you can find out more on POTS and other forms of dysautonomia. http://www.stars.org.uk/
Postural orthostatic tachycardia syndrome (POTS) is one of a group of disorders that have orthostatic intolerance (OI) as their primary symptom. OI describes a condition in which an excessively reduced volume of blood returns to the heart after an individual stands up from a lying down position. The primary symptom of OI is lightheadedness or fainting. In POTS, the lightheadedness or fainting is also accompanied by a rapid increase in heartbeat of more than 30 beats per minute, or a heart rate that exceeds 120 beats per minute, within 10 minutes of rising. The faintness or lightheadeness of POTS are relieved by lying down again. Anyone at any age can develop POTS, but the majority of individuals affected (between 75 and 80 percent) are women between the ages of 15 to 50 years of age. Some women report an increase in episodes of POTS right before their menstrual periods. POTS often begins after a pregnancy, major surgery, trauma, or a viral illness. It may make individuals unable to exercise because the activity brings on fainting spells or dizziness.
Doctors aren’t sure yet what causes the reduced return of blood to the heart that occurs in OI, or why the heart begins to beat so rapidly in POTS, but the current thinking is that they are the result of abnormalities in the sympathetic nervous system (which is responsible for decreasing muscle tone and increasing heartbeat in reaction to situations of stress or emergency) or the parasympathetic nervous system (which does the opposite) or both .
Physicians propose that these syndromes occur together due to abnormal connective tissue in dependent blood vessels in those with EDS, which permits veins to distend excessively in response to ordinary hydrostatic pressures (Rowe, Barron, Calkins, Maumenee, Tong & Geraghty, 1999). Simply put, this connective tissue abnormality allows excessive amounts of blood to pool in these patients’ lower limbs when they stand up.
Nitric Oxide deficit may play a role in POTS symptoms. Nitric Oxide (NO) is a very simple molecule whose job it is to control blood vessel size with changes in blood flow, changes in blood vessels during inflammation and blood vessel leakiness (Stewart, 2005). Some POTS patients have a deficit of nitric oxide (Stewart, Taneja, Glover & Medow, 2008.). This deficit may relate to the nitric oxide synthase molecule called nNOS, but it also has a compelling relationship with the hormone angiotensin-II. Together angiotensin-II and NO may help to regulate sympathetic nerve activity in the brain and also in certain peripheral nerves (such as the splanchnic circulation). Moreover, angiotensin-II can result in increased oxidative stress which can itself reduce NO (Dr. Julian Stewart, personal communication, November 28, 2007).
This is interesting as it ties in with the work of John McLaren Howard who runs the ATP Profile Test through Sarah Myhill, and the work of Professor Martin Pall. All these theories can be found on my website if you are interested in further reading.
Adrenergic receptor dysfunction  with alpha 1 and beta receptor supersensitivity, hyperdopaminergic state  and high free plasma norepinephrine levels have all been described with POTS. Precipitating physical or mental stress can trigger symptoms and disease which may thereafter persist for long [2,3].