WHAT IS HMS?
How HMS Works and What Causes it - Hypermobility Syndrome (also referred to as Ehlers-Danlos Syndrome Type III, Joint Hypermobility Syndrome, and Benign Joint Hypermobility Syndrome) is a medical condition which belongs to a family of connective tissue disorders called Ehlers-Danlos Syndrome. This family of disorders is genetic, caused by a heritable collagen defect. Collagen is a major building block in all of the body’s soft tissues. There are many different types of collagen, and a certain proportion of each type of collagen is needed to create a stable ‘collagen bundle’ which is responsible for creating the right strength and elasticity for your soft tissues. People with HMS are born with the wrong ratio of these different types of collagen, and the result is that their soft tissues are more elastic, or ‘stretchier’ than they should be. We see this effect most prominently in the connective tissues around the joints. As a result of this increased elasticity of the connective tissues a joint becomes too lax, causing it to have a greater range of motion than it was designed to have, what a lot of people refer to as being ‘double-jointed.’ This instability of the joint can be painful in and of itself, and can also lead to more frequent dislocations, sprains, and injuries to that joint. The widespread laxity of joints seen in HMS patients can also have a negative effect on one’s body mechanics. Because of the hypermobile nature of their tissues, people with HMS often lack the muscle tone necessary to maintain proper or ‘neutral’ postures and tend to ‘hang on’ their joints for stability - locking their knees back when they stand or slumping their shoulders forward while they sit. These improper postures lead to poor body mechanics, often resulting in muscle imbalances and incorrect muscle recruitment. Often times the body will try to overcompensate for lax or injured joints by tightening the muscles surrounding that joint, so while patients with hypermobility are usually thought of as being ‘too loose,’ much of their musculoskeletal pain can actually come from chronically tight muscles as their bodies try to compensate for the inherent laxity of the connective tissues. So, unlike many rheumatologic disorders such as arthritis where the pain is primarily caused by inflammation, the joint pain associated with HMS comes primarily from joint instability, hyperextension, poor body mechanics and posture, and chronically tight muscles. Another common source of pain in HMS is overuse or underuse of a certain joint. Often repetitive movements or prolonged use of a hypermobile joint can lead to pain as the muscles become fatigued as they strain to keep the joint from dislocating. Conversely, if one stays still too long, pressure can begin to build up, straining the lax joint. (The best way to understand this is to think about why pregnant women have trouble sleeping. During pregnancy the body releases hormones to loosen the joints so that it can accommodate the fetus. Pregnant women will often toss and turn at night because when they lie down and put pressure on a joint for too long it becomes painful and they have to move in order to relieve this pain/pressure). A similar process happens to hypermobile joints when one puts too much weight or pressure on a joint or stays still too long.
Because collagen is a major component in all soft tissues, not just the connective tissues around the joints, HMS affects other systems in the body as well, causing what we call ‘secondary symptoms’ (i.e. those symptoms not directly associated with joint pain). Here is a list of primary and secondary symptoms commonly associated with HMS.
· Joint pain: often pain will not go away completely with the typical pain management strategy of ice, rest, elevation, and NSAID or anti-inflammatory medications, pain often occurs with little or no inflammation
· Frequent dislocations, subluxations (a partial dislocation), and hyperextensions
· Popping or clicking of joints with movement
· Chronic pain and/or fibromyalgia
· GI problems: irritable bowel syndrome, diarrhea, constipation, reflux, gas and stomach pain, sensitivity to certain foods
· OBYGN problems: irregular periods, heavy periods, increased joint pain before or during period or during pregnancy, pelvic floor instability leading to uterine prolapse and/or incontinence especially after pregnancy, premature or rapid labor
· Cardiovascular problems: irregular heartbeat, palpitations, chest pain, poor circulation due to ‘stretchy’ veins, blood vessels that rupture easily
· Skin: slow wound healing, skin bruises easily, abnormal scars, stretch marks
· Oral problems: higher risk for gum disease, cavities, and tooth fracture, TMJ and jaw dislocation or pain common
· Autonomic problems: many HMS patients also suffer from dysfunction of the sympathetic nervous system (POTS, Orthostatic Intolerance, etc.) which can cause lightheadedness, dizziness, fainting or near fainting, increased heart rate while standing, low blood pressure, trembling, headache, blurry vision, anxiety, and nausea
· Other common problems include chronic fatigue, trouble sleeping, hernias, and early onset arthritis
How Symptoms Behave - As you can see, the range of symptoms that can be associated with HMS is immense - no two patients are alike. Even among families, the symptoms and the severity of those symptoms vary greatly from generation to generation and even amongst siblings. Symptoms can also vary greatly over an individual’s lifetime. In my case, for example, even though I was born hypermobile, I didn’t developed debilitating joint pain until I was 20, and that pain literally manifested itself overnight. One day I was a normal, active, healthy college student, and the next I was in so much pain that I couldn’t walk or get out of bed. Unfortunately this sudden, often random onset of symptoms is very typical of HMS. No one really knows why this happens, but one theory is that every-day overuse or misuse of hypermobile joints causes ‘microtrauma’ to the joint tissues. Eventually this ‘microtrauma’ can build up and cause pain – a sort of ‘the straw that broke the camel’s back’ situation. While many HMS patients develop joint pain as a result of direct injury, it is just as common for patients to develop pain as a result of normal, everyday tasks. There are some people who live their entire lives with HMS that never develop symptoms serious enough to affect their quality of life. There are others who have such severe symptoms that they are disabled from early childhood. And there are still others like me who live relatively normal, healthy lives until one day they develop serious health complications. There is no way to really predict what types of symptoms you may develop or when you might develop them, so it’s important to stay in touch with your body and listen to what it is telling you. The treatment and management of this disorder is a lifelong process, so it’s important to be flexible (no pun intended!), dealing with problems as they come while sticking to an overall treatment plan that will allow you to live your life. The more you know about your body and how HMS affects it, the better you can become at spotting new symptoms as they arise, treating those symptoms quickly before they can become disabling, and taking preventative measures or participating in therapies that will help prevent any further problems in the future.
Why HMS Doesn’t Have to Rule Your Life – I know how overwhelming it is living with this disorder and how it can just take over your life, causing a feeling of hopelessness as you ask yourself ‘Is this really my life? Is this how I am going to feel forever?’ Although HMS is a genetic disorder, which means it is a life-long illness (it is written in your DNA), it’s important to remember that the symptoms of HMS do not necessarily have to be life long - just because you are experiencing certain symptoms right now, doesn’t mean that you will have to deal with that symptom (or the severity of that symptom) for the rest of your life. So while the genetic defect which causes HMS cannot be fixed once someone is born it’s important to remember that the symptoms of HMS are treatable. It is true that many symptoms may take a long time to improve once treatment is started, but don’t lose hope and remember not to project your present limitations or problems into your future. Just because you are in pain every day now doesn’t mean you will be in pain all your life, and just because you are disabled now doesn’t mean you will always be disabled. Know that chronic pain, fatigue, and disability do not have to be your life, there are things you can do about them, you do not have to take them lying down. I know it’s hard when you are in pain and feel so helpless, but it’s important to stay positive, learning how to accommodate your current limitations while devising a treatment plan to help you overcome those limitations in the future. One of the most debilitating symptoms of HMS is actually self limitation – oftentimes fear of pain causes HMS patients to avoid certain activities or movements altogether. This can cause deconditioning of certain muscles, which can actually cause more pain and instability in the future. Adaptive behaviors can also cause muscular imbalances, causing the pain to spread to surrounding joints and can hinder one’s social life. While you should avoid doing anything that causes pain, it’s important not write anything off, to say “I’ll never be able to do that again.” NEVER let anyone tell you that you can’t do something just because you have HMS – especially yourself! I truly believe that if I work hard enough, I can do anything. It might take me longer, and I probably won’t be able to go about it the same way as other people, I’ll have to find a way of doing things that is constructive rather than destructive to my body, balancing my goals with what I know my body can handle, but I will be able to find a way to accomplish those things I want in life in spite of my HMS. It is important to be smart and not engage in activities that could make your symptoms worse, but know that it is possible to work on finding a way to modify or alter that activity, job, or goal so that it works with your body. I might have a lot of limitations right now but I look forward to finding out, step by step, how to get to the future I always wanted for myself – and I know that you can do the same. We are not going to take this illness lying down, let’s be beacons of hope together!