Ehler’s Danlos is a group of inheritable connective tissue disorders related to the formation of collagen. EDS was named by two physicians, Edvards Ehlers and Henri-Alexandre Danlos, in the 1900’s. Hypermobile Ehler’s Danlos (hEDS) is the least severe type of Ehler’s Danlos, but it can still be a debilitating and cause a lot of serious problems. HEDS used to be referred to as Ehler’s Danlos III or type 3, but that terminology is being phased out. Most of the problems that arise from hEDS are skeletomuscular in nature, but because collagen is incredibly important throughout the body other serious problems may arise.
Collagen is a connective tissue that acts as the “glue” keeping our bodies together. Genetic alteration of EDS at the molecular level also leads to weakened defective connective tissue within the hEDS.
Hypermobile Ehler’s Danlos ranges in how it affects people. Sometimes it can cause small problems or it can be debilitating and completely disabling. HEDS is an invisible illness; you usually cannot tell someone has hEDS simply by looking at them.
Prevalence
HEDS causes more problems in women because they are typically already more flexible than men. Female hormones may also worsen joint laxity. Between 1 in 5,000 and 1 in 20,000 people have hEDS and experts think that it is largely under-diagnosed. hEDS may be the most prevalent inheritable connective tissue disorder.
Diagnosis
Unlike other types of Ehler’s Danlos, there is not yet a genetic test that can effectively diagnose Ehler’s Danlos III. Usually, the Beighton score is used along with a family and patient history to diagnose hEDS. Anything above a five out of nine on the scale is usually considered a positive result. Minor Diagnostic Criteria, as follows, are also important in the diagnosis of hEDS.
“Minor Diagnostic Criteria for the Hypermobility Type of EDS[1]
- Family history of similar features without significant skin or soft tissue fragility in a pattern consistent with autosomal dominant inheritance
- Recurrent joint dislocations or subluxations
- Chronic joint or limb pain
- Easy bruising
- Functional bowel disorders (functional gastritis, irritable bowel syndrome)
- Neurally mediated hypotension or postural orthostatic tachycardia
- High, narrow palate
- Dental crowding “
Before seeing a geneticist, Classical EDS and hEDS may be hard to differentiate. More temperate cases of classical EDS may be misdiagnosed as hEDS initially. Because the two conditions have different common complications receiving a correct diagnosis is crucial for treatment.
Genetics
It is generally agreed upon that hEDS is passed on in an autosomal dominant manner. This means that the passing of hEDS is not linked to one gender or the other and that only one parent must have hEDS for their children to as well. It also means that those with hEDS have a 50% of passing it on to their children.
People with hEDS almost always have one parent with EDS as well. In some cases, Ehler’s Danlos can be well-managed in one generation and a disaster in the next. For example, my maternal grandmother and mother both get a high score on the Beighton test and meet the diagnostic criteria for hEDS but have never been diagnosed with hEDS.
In more rare cases a de novo mutation (basically a brand new mutation) may arise; patients may have hEDS without biological ancestor’s having the condition. Some cases of hEDS have had a genetic factor linked to their condition, TNXB, but not all patients with hEDS have “haploinsufficiency of tenascin-X (encoded by TNXB) associated with EDS.”[2]
The Ehler’s Danlos Network claims that Ehler’s Danlos can also be passed on in an autosomal recessive pattern. It is also suggested that carriers of this autosomal recessive hEDS may have symptoms of hEDS but without “skin hyperextensibility, easy bruising, or other hematologic manifestations.” [3]
The genetics behind EDS can be complicated, but usually hEDS is passed along in an autosomal dominant fashion with these few exceptions. When these exceptions happen we may see hEDS without a family history or some strange cases of recessive carriers having symptoms.
Symptoms
Psychological
- Anxiety and depression are common in hEDS and are exacerbated by poor sleep and pain.
Neurological
- Migraines are prevalent with hEDS patients.
- There seems to be a higher occurrence of terrible vision in hEDS. HEDS sufferers are more likely to have an eye prescription of worse than -6.0.
- Postural Orthostatic Tachycardia Syndrome (POTS) is a type of Dysautonomia (dysfunction of the autonomic nervous system) commonly seen in hEDS sufferers. There is speculation that hEDS is one of the important causes of POTS.
- Inner ear problems in hEDS patients lead to balance problems and potential hearing problems.
- Neuropathic pain, pain caused by damaged nerve fibers, also occurs in hEDS patients.
Skeletomuscular
- HEDS patients routinely suffer through subluxations and dislocations. These joints that “pop out of place” may be large joints of small joints.
- Tendonitis and bursitis are also common in hEDS.
- Degenerative joint disease (DJD) is more likely to occur at a younger age in hEDS.
- Temporomandibular joint disorders (TMJ) are also more likely to occur.
- Iliotibial band syndrome or “snapping hip syndrome” is commonplace in hEDS patients.
- Osteoporosis, especially at a younger age than expected, is also a frequent manifestation of hEDS.
- HEDS patients are more likely to walk slowly and to have a shorter gait than their peers due to joint pain and problems.
Gastrointestinal
- Bowel and digestive problems are often seen in Ehler’s Danlos. A few prevalent comorbid (conditions occurring together) conditions are IBS, gastroparesis, acid reflux.
Dermatological
- HEDS patients often have veiny skin that is velvety, stretchy, thin, and soft without moisturizer.
- Slowed healing and scarring is also often seen with hEDS.
- HEDS patients are more likely to have molluscoid pseudotumors, fleshy lesions associated with scars.
General
- Ehler’s Danlos patients are at a higher risk of prolapse, especially uterine prolapse, and in general.
- Dental crowding and periodontal disease are common in hEDS patients.
- Sleep impairment, usually caused by joint pain, is a common symptom of hEDS.
- Hernias are more likely to occur in hEDS populations.
Hematological & Cardiovascular
- Easy bruising or bruising with no obvious cause is common in Ehler’s Danlos.
- Aneurysms are more frequent in EDS populations compared to the general population.
- Hematological manifestations of hEDS mimic von Willebrand disease and can lead to hypocoagulability (blood that takes longer to clot).
- Raynaud syndrome and acrocyanosis, the fingers, face, or toes turning blue or white due to poor blood flow, is accepted as a usual occurrence.
- Mitral Valve Prolapse (MVP) is more common in hEDS patients.
- Aortic dilation is also commonly seen in hEDS patients.
Treatment
To be frank, I find treatment options for hEDS pathetic. The best options we have are physical therapy and low-impact exercises such as swimming or pilates. However, there are very few physical therapists who actually know of hEDS and can help without worsening symptoms. Many physical therapists incorporate stretching, some of which is a terrible idea if you have hEDS. It is important to have a physical therapist who won’t make you worse. There is a book for physical therapists, but the tiny thing is $70- inaccessible for many people bombarded by medical bills.
Managing pain is one of the primary goals in treating hEDS. However, pain treatment is controversial. Experts and patients argue over the effectiveness and safety of using opiates, marijuana, and even anti- inflammatory medicine for long-term use in hEDS. More research needs to be done on what helps hEDS patients most.
Mobility assistance devices and braces can also help some patients. Everyone knows about ankle, wrist, and knee braces. With hEDS, you learn about the strange braces and splints- like ring splints for finger joints or hip braces. These devices are incredibly helpful for many but incredibly expensive. A single ring splint for a single joint on the fingers averages $50 and thumb splints can be hundreds of dollars.
Occupational therapists are sometimes recommended for hEDS. They can help teach how to conserve energy, fight fatigue, and think of solutions for problems caused by your chronic illness. Even with treatment many hEDS patients have trouble working. Therapy is also suggested to learn how to live with and deal with this condition and the depression that often accompanies chronic pain.
Prognosis
It is common for people to degenerate as they get older; aches and pains get worse with passing years. The good news is that hEDS patient’s joints get less loose as they age. The bad news is that in every other way you get worse with age with hEDS. HEDS is a lifelong disease.
Arthritis and degenerative joint disease are seen much earlier in life and, therefore, are given the opportunity to get much much worse. For example, I was diagnosed with DJD in my hip at 18; at 24 my DJD is even worse. I’ve been told to expect it to become harder to manage as I age.
All the literature suggests that hEDS does not affect life span. However, a life-threatening complication, aneurysms, are more commonly found in hEDS than the population. I am not sure what to make of this contradicting evidence so interpret its meaning as you like.
Quality of Life & My Experience
If you have read the symptoms for this condition it may not take a detective to figure out that hEDS can lead to a worsened quality of life. Joint pain is the most common complaint among hEDS sufferers. Pain is severe enough to hugely lessen our quality of life. Constant pain in multiple joints, dislocations, and easy injury is exhausting to cope through.
My experience with hEDS has been terrible and incredibly painful. In the past 72 hours I have dislocated/ subluxated/ hurt somehow my left hip, my right shoulder, my right thumb, my right wrist, and my left ankle. Popping joints in and out leads to a lot of inflammation and pain, but I have regular pain even on top of those joints that won’t stay in place. Discs in my lower back, SI joint problems, and a constant rib pain also plague me daily. The only time the pain recedes is when I swim- which is hard to do when your body is literally falling apart. That long list of problems is common with other hEDS sufferers. Collagen is widespread so our problems are as well.
Many others with hEDS have it even worse than I do. Some people are unable to work in any way and are completely disabled. HEDS has effectively hit the pause button on their life. Because hEDS isn’t common we don’t get much understanding or really effort from medical professionals.
Since I was diagnosed three years ago I have watched about three dozen people in my various support groups commit suicide. No one would take their severe pain seriously and they couldn’t handle it anymore. HEDS pain needs to be recognized, acknowledged, and treated effectively. Whichever side of the marijuana and opiate debate (whether they should be used to treat hEDS pain) you are on, it is important to at the very least acknowledge what these people are struggling through and how their quality of life is affected.
I contemplated whether I should add this paragraph because it is very personal. However, I think it will enhance understanding of how much hEDS has touched all aspects of my life and does so to many others. It is common for women with hEDS to have complications with pregnancy, fear to passing on their bad genes and suffering, or simply cannot have children due to their health. For me, the genetic component of hEDS is a primary reason I made the decision never to have biological children. I do not like 50% odds and have no way of knowing if a biological child would have a severe case or not. I don’t want to pass pain on; there is enough suffering in the world. It was not an easy decision, but a tough one that hEDS women are forced to make.
Learn More
Here are some great resources on hEDS:
http://www.ncbi.nlm.nih.gov/books/NBK1279/
http://www.ednf.org/hypermobility-type
I recommend using EDNF resources only on this page. Some of their other information is potentially harmful to patients.
My book will also have an extended section of EDS.
[1] http://www.ehlersdanlosnetwork.org/hypermobility.html
[2] http://www.ncbi.nlm.nih.gov/pubmed/23284009
[3] http://www.ncbi.nlm.nih.gov/books/NBK1279/
Chronically Ridiculous 