Ehlers-Danlos Syndrome Type III or Joint Hypermobility Syndrome
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Do I have Hypermobile type Ehlers-Danlos syndrome or hEDS, or am I just simply hypermobile and have diffuse pain all over?
I hurt all over. These are questions that I am often asked from patients that come to our Ehlers-Danlos Syndrome doctors at Franklin Cardiovascular Associates.
There are several types of Ehlers-Danlos Syndrome.
We will discuss the various types subsequently.
However, the most common type that we see in clinical practice is the type known as Hypermobile Ehlers-Danlos Syndrome Type III.
This is also known as the hypermobile type of Ehlers-Danlos Syndrome (hEDS). It has also been referred as benign joint hypermobility, or joint hypermobility syndrome (JHS).
What are the symptoms of hypermobile ehlers-danlos Syndrome (hEDS) Type III?
The typical patient presents to us with diffuse pain, especially in the shoulders, upper back, interscapular area and elsewhere.
The patients typically do not stand for long periods of time and get dizzy and may have a history of fainting or near-fainting.
Oftentimes, the patients are extremely tired, cannot get going in the morning, and oftentimes have to lie down when standing for periods of time.
Bright light or sound may disturb them.
The patients oftentimes complain of their joints being quite flexible and oftentimes subluxing, or popping out.
It is not unusual for the patients to have their knees, elbows, ankles, wrists and even jaw pop out, or their cervical spine hypermobile.
Even hyper flexibility in the lumbar spine may make the patient able to touch the ground with their palms to hands quite easily.
Many patients state that they were quite athletic and were good dancers or good gymnasts during high school and grade school.
They even comment that they believe they are double-jointed.
A family history of this is often important in determining whether a person has hypermobile Ehlers-Danlos Syndrome type 3 or or joint hypermobility syndrome (JHS).
There is a way to type for hypermobility in a scoring system known as Beighton score. We will subsequently discuss that also.
While physicians can do this simple scoring system in the office setting, the patient can also perform it at home.
Oftentimes, the physician uses a measuring instrument known as a goniometer to get more precise information on the flexibility of the various joints tested, which include the joints of the hand, lower back, elbow, and knee for this assessment.
The skin is oftentimes soft and very hyper extensible in patients who present to our office with suspected hypermobile Ehlers-Danlos Syndrome.
Specifically, the skin and the nondominant forearm should be tested to see if it stretches more than 2 cm. The skin may also be velvety and mildly hyper extensible.
Patients may have striae on their back, thighs, breast areas and abdomen, and they may also have a history of recurrent hernias of the abdomen or inguinal area.
Interestingly, some patients give a history of pelvic floor abnormalities with rectal or uterine prolapse as children.
Some patients may present with arm spans greater than their height spans. However, other entities such as Marfan syndrome, which we will discuss below, should be considered first with this presentation.
How to tell if you have hypermobile Ehlers-Danlos syndrome (hEDS) Type III?
There are definite criteria to diagnose hypermobile Ehlers-Danlos Syndrome and we will discuss that below.
These criteria should be met for a precise definition.
Unfortunately, there is no blood test, lab test, or imaging modality that confirms a diagnosis, and the diagnosis completely clinical.
There is no genetic testing that has been identified for hypermobile Ehlers-Danlos Syndrome.
What may complicate the issue is there are some patients who present with this syndrome complex de-novo and do not have a family history despite a careful search from the physician and clinician.
These are the minority of cases, however, but the exact percentage is not known.
Many patients present to our office with prior diagnoses of depression and anxiety or psychiatric illness attributed to them, but they know they have something real and abnormal that is not purely psychiatric.
The patients hurt all over and have diffuse pain, which keeps them from functioning properly.
Many cannot perform any gainful employment. Certainly, they become anxious and depressed because of their non-functional status. They have poor exercise tolerance.
Autonomic nervous system features, such as exercise intolerance, orthostatic intolerance, where one cannot stand up without getting brain fog or dizzy, and chronic fatigue are almost universally present in these patients.
There is a high percentage of females with this problem, but we do also see males in addition, since it is believed that if a person has this disorder they can transmit it genetically to one or two of their children (autosomal dominant transmission).
Therefore, when a patient presents with many of these symptoms that we have described above, we will do a clinical test for joint hypermobility, which can be performed quickly in the office setting and give a scoring system up to nine points.
As experienced Ehlers-Danlos Syndrome doctors, we look for systemic features that reflect a syndrome, such as family history or many musculoskeletal complications such as pain in several limbs that have been occurring for more than three months, or pain that is widespread and recurrent joint dislocations or joint instability without any trauma having occurred; that is they occur spontaneously.
We also look to exclude other possibilities that may mimic hypermobile Ehlers-Danlos Syndrome, which will be discussed below.
These syndromes have abnormal collagen tissue and abnormal connective tissue as does Ehlers-Danlos and can give joint laxity and hypermobility, but have other features, some of which can be life-threatening and need to be identified.
Many rheumatologists will send us patients whom they have evaluated for connective tissue disease and have excluded these (example, excluded lupus, rheumatoid arthritis, scleroderma, and so forth) and have us evaluate the patients who have hypermobility and pain for autonomic dysfunction, which we will detail below also.
It is not difficult to diagnosis hypermobile Ehlers-Danlos Syndrome (hEDS) but a very detailed history and physical examination is required.
Very thorough family history is also required, and this may even involve examining some of the family members.
Excluding other entities that present with abnormal collagen composition or other types of hereditary tissue, diseases is extremely important and consultation with a skilled rheumatologist and an autonomic nervous system expert is often needed.
We believe that the fatigue and exercise intolerance and oftentimes the shortness of breath, palpitations, and chest pains that many patients with hypermobile Ehlers-Danlos Syndrome present with are all the result of the dysfunction of the autonomic nervous system, which almost always goes hand in hand with the hypermobile Ehlers-Danlos Syndrome. This we can test for objectively with even some diagnostic test modalities that give us quantitative information.
However, as mentioned before, there is no genetic testing or lab testing that is diagnostic of Ehlers-Danlos Syndrome. For example, diabetes mellitus can be diagnosed with a certain blood sugar above a known level or a certain hemoglobin A1c level.
High cholesterol and other lipid disorders can be diagnosed with abnormally elevated lipid values above a certain level.
Lyme disease can be diagnosed with various serology for Lyme blood testing. No such lab test, blood test, or genetic test is possible with hypermobile Ehlers-Danlos Syndrome.
That is not to say that we will not in the future hone down on specific gene loci or other biomarkers that may be supportive of hypermobile Ehlers-Danlos Syndrome. However, to date, there are none.
12 Comments
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DM
As a newly diagnosed EDS type 3 (at age 56) I am still getting to grips with all the information, let alone establishing a management schedule, and just started on the meds. I appreciate the information very much. Its part of my journey I guess to figuring out how best to manage my condition and accept that it is incurable. Thanks again.
DM
Susan
I’m in the process of getting a diagnosis. Hopefully.
Any and all advice is surely welcome please and thank you in advance.
Diana Crockett
Very nice, thorough explanation. I will be sharing your article with an EDS-h Support Group, to which I belong. It might be a helpful summary that they can share with family and physicians.
Dan Eller
I was diagnosed with EDS many years ago and have chronic pain, subluxations, dislocations, problems with sleeping, chronic fatigue, pulmonary issues, on oxygen 24/7, I’m in my early 60s, I was born with one club foot, crossed eyes, anxiety, depression, loose joints, paper thin scares all over, diverticulitis that resulted in a partial colonectomy, bleeding ulcers and you name it. Too many surgeries to list.
can not say
i have heds and i only really dislocate
Stephanie Pina
Thank you so much for you article!! I’m 38 years old,, have recently been diagnosed with hEDS. After living with symptoms for 20 plus years. Its very hard to explain to people and family. This article will definitely help to explain. Thank you again
Kip
If there’s literally no research that’s been done on this then how would an “expert” know? My entire body head to toe hurts all over with low thyroid. Pile on a lung condition (actually 2) I won’t breathe well either. I don’t breathe well anymore anyway. Not after what Wilhoit properties did to me last year.
H
I got in trouble as a kid for having breathing problems. The doctor said it was anxiety. My mother was very angry at me for having such a stupid problem. I was dx’d w/ hEDS in my 40’s. Now at age 50 I’m trying to figure out why I have trouble breathing. The geneticist told me I have hypotonia in my lungs & daytime apnea. I’m hoping I can figure out what to do about it. It’s very hard to live with.
Nyx
I have been diagnosed with hEDS but my cardiologist refuses to diagnose POTS, even though he admits I have all the symptoms, because I am on medication that can cause dizziness. He even has said he knows if he put me on a tilt table test I would pass out. I have had “dizziness” (all my POTS and hEDS symptoms) long before I started any meds (since I was a child but the POTS symptomsgot worse when I was a teen still before meds). My insurance sadly won’t pay for me to get a second opinion. I’m so tired of having other Dr’s tell me I have to go to the ER due to passing out and they always tell me to see my cardiologist.
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Leonard Barbo
Had a orthopedic surgeon tell me when I was 13 years old that I have EDS type 3 and I’m now 68, well almost 68. I’ll never forget that he said if I do good in school, go to college and get a degree, graduate and go to work in a sedentary occupation. If you do that you’ll probably last into your 60s without any significant problems. Right! Otherwise he says “you’ll be discarded like an old circus act ”
I was a circus act all on my own. When I was young teens to my 20 I was in good shape. I was buffed, worked out all the time, and could still tie myself into knots. I could fit in a gym locker, sit flat on the floor and lean forward with my stomach also flat on the floor. Right out of high school I went to work logging, all the hard work, on skyline machines, I fell timber, nothing easy. Then I pulled chain in the sawmill for 7 years, when I left there I was starting to have joint problems. Was in sales for a couple years, then hauled logs for 20 years, my own truck, did well, but joint problems were piling up. Sold out and finished my driving career on the highway. Retired at 63.
I’ve had a great time, great life but boy I wish I’d have listened to my Dr when I was 13. In the morning I can bearley walk, my ankles and feet are so wallared out I’m afraid to stand long or try to walk very far. I have 1 knee replacement, lower back surgery, lots of osteoarthritis.
So to all you youngsters with EDS , listen to your Dr. I past helping, physically that is, but I still enjoy my life that my heavenly Father has blessed me with, Amen.