The Bendy Quill
Hypermobility: a misleading term [Guest Post]
GUEST POST BY A RETIRED DOCTOR WITH h-EDS
According to the Ehlers-Danlos Society:
Hypermobility spectrum disorders (HSD) are connective tissue disorders that cause joint hypermobility, instability, injury, and pain. Other problems such as fatigue, headaches, GI problems, and autonomic dysfunction are often seen as part of HSD.
To know more about HSD, click on the buttons below:
In Simple Words
HSD and Hypermobile Ehlers-Danlos Syndrome (h-EDS) are types of hereditary connective tissue disorders (HCDT). They affect the whole body and every organ system in the body. Collagen is the main structural protein of the human body, which means, it is there in every organ. So, every part of the body on the outside and the inside is affected by this condition. In addition, there are other manifestations of neurological and immune systems commonly seen in people with these conditions. The conditions present in people with a wide range of variability. A large proportion of people never have any distressing symptoms from the condition. Among the people who do have symptoms, the people with severe manifestations may get diagnosed, while the vast majority suffering from non-life-threatening level of symptoms never get diagnosed in their lifetimes.
Three people in my own family with HSD have completely different profiles of symptoms. If you know one person with HSD, do not assume that they depict the range of suffering of every other person with HSD.
The Doctors Don't Know *&%^$#
The HSD conditions are not well understood and therefore not included in MBBS books in their totality or with any degree of accuracy keeping up with the latest research. There is a serious lack of awareness and understanding of these diseases among the medical fraternity and, of course, the general public. This leads to lack of or delayed diagnosis, incorrect management, inaccurate data collection, and lack of social, insurance, healthcare and governmental support.
If we consider the full range of the spectrum of these conditions, the prevalence is high, and any medium sized school will have at least 2 children on this spectrum. An Indian doctor with an average practice will come across one to three patients in a month. Yet, the number of times a GP has diagnosed HSD in a patient in their lifetime may be zilch.
The Ehlers-Danlos Society says:
The combined prevalence of HSD and hEDS is in the order of 1 in 600 to 1 in 900. Expert opinion is that HSD is common and that hEDS is likely to be common. However, at this time it is not possible to say what the prevalence figure is for each of HSD and hEDS separately because this has not been studied yet. [LINK]
Many experts say the prevalence may be as high as 1 in 10.
What It Looks Like In Real Life
That perpetually unwell person you know with no visible disability, no diagnosed disease, with "food intolerances" or digestion problems, who seems to be tired and often in pain, known to be a "worrier", and often drops out of social events - might be a person with undiagnosed HSD. They also have low blood pressure, and use that to explain their fatigue. They seem to be hypochondriacs and often people will say that they have imaginary illnesses due to something being wrong in their mind. They complain about the weather all the time, things are either too hot for them, or too cold for them. Or too humid. They may have recurrent respiratory infections or problems. They may have mild to severe allergies. They have "acidity". The women have gynecological issues. These people are finicky about their bowel habits, which sometimes even prevents them from getting excited about travel. They may be picky about shoes, because their feet hurt. They may be sensitive to the weight of the blanket - because the blanket causes ankle pain! They may have problems with the eyes, skin, nails, teeth and gums, nerves, or have low back pain, and get repeated joint, muscle and skin injuries while doing routine work. The doctors encourage them to exercise and eat well, since there is nothing wrong with them. Friends suggest yoga and mindfulness to them. And these suggestions may even work for many, while other don't seem to be well no matter how many lifestyle changes they adopt and how many supplements they take. They are often labeled lazy or mental by people who know them.
Why & How
As of 2023, there is no strong consensus on the causes of HSD and h-EDS, although it is generally accepted that both have some sort of genetic mutations that lead to defective collagen. As of now, these mutations are not clear, nor are the correlations of these mutations with other associated conditions often seen with these conditions, especially the conditions that cannot be explained on the basis of mechanical/structural issues. For example, many associated skin and vascular conditions can be broadly understood to be due to the collagen of the skin and vessel walls being defective, but anxiety disorders, often seen in these patients, cannot be explained by the collagen.
The Problem With The Term Hypermobility
"Hypermobility" or excessive flexibility of the ligaments of the joints leading the joints to have a wider range of motion is just one of the symptoms the person with any of these conditions has. Unfortunately, this symptom is probably the most visually striking one, with the other symptoms being internal and invisible. This has led to this work sticking around like superglue in the nomenclature and the memories of health providers and practitioners.
The association of the totality of the suffering endured by the person with HSD is reduced to this "hypermobility of the joints", leading to the perception that joint support, painkillers and a good diet rich in calcium and vitamin D are all the person needs.
My own rheumatologist told me, "With age, the joints get stiffer, and your hypermobility will be gone, and you will be well, The worst of the problems is over, as you are now in your middle age." As if the joint mobility is the cause of my 45+ health conditions/diagnoses!
Worse are the medical people from the older generation, who actually know a bit about this, and remember the term "benign joint hypermobility syndrome" (BJHS) as opposed to h-EDS (EDS-III in the olden days). It is anything but benign for millions of people!
It would be better to call it Unknown Collagen Disorder or Anomalous Collagen Spectrum Disorder or something, that does not use the word hypermobility.
Now that I am past middle age and no longer hypermobile, I struggle to convince specialists that I have invisible sufferings and disabilities. Last year I consulted the Head of Neurology of an institute for a neurological problem. Maintaining scientific skepticism and rationale is essential to being a good clinician. But it also means being less open to things that are not readily apparent, but true nonetheless. He seemed reluctant to believe all the invisible problems I have since I look so fine and cheerful. He seemed to doubt the Rheumatologist's diagnosis too. He said where is the genetic test report? I had to tell him that the genetic mutation is not yet known for h-EDS and it is a clinical diagnosis. He flat out refused to believe that I have marfanoid features. Finally, he got the residents to measure me and was surprised to see the ratios. He then ordered serum homocysteine levels which turned out to be abnormal, finally convincing him that indeed something was off. It also helped that I am myself a doctor, and he conferred more credibility to my impartial clinical narrative of my symptoms than he would have to a seemingly healthy and anxious layperson. Also, being a diligent clinician, I think he looked up the latest research, and was willing to stand corrected, which is not the case with every doctor, since hubris and ego are known issues in the medical fraternity.
It is easy to think of people with and advocating for HSD and h-EDS as conspiracy theorists. After all, if it was that common and causes that much suffering, surely we would have heard something about it? Surely, organizations, agencies and policy makers would have done something about it? I advise laypersons, caregivers and doctors interested in these conditions to go through the current high-quality scientific literature. Click on the buttons below and read the results of the first 3-4 pages.
Whether you are a patient or a doctor, knowledge is your best weapon and tool. Educate yourself and try to raise awareness about these conditions. Dr. Rodney Grahame, the eminent rheumatologist and leading expert who brought h-EDS and HSD into limelight, estimates that 10% of the people are on the hypermobility spectrum. He said in one talk:
“No other condition in the history of modern medicine, has been neglected in such a way as Ehlers-Danlos Syndrome”.
It is time we sought to rectify this.