Are you Hyperflexible? Understanding Joint Hypermobility, Ehlers-Danlos Syndrome and Hypermobility Syndromes

Joint Hypermobility means your joints are overly “stretchy” with a larger range of movement than normal. Joint hypermobility is often identified using the Beighton Score, a simple system to quantify hypermobility. For many, this can actually be a gift. The extra flexibility makes gifted athletes, gymnasts, and dancers. It also helps you bend in situations where most would break.  But, for some joint hypermobility is accompanied with a variety of more serious symptoms.  For these individuals, a more serious disorder, Ehlers-Danlos Syndrome (EDS) and its family of Hypermobility Syndromes, may be present.

Ehlers-Danlos Syndrome and the Family of Hypermobility Syndromes

As mentioned before, many people will not experience any effects from joint hypermobility syndromes. However, when multiple other systems are involved along with joint hypermobility, like those that affect blood pressure regulation, the gastrointestinal system, reproductive system, the joints of the body, and blood vessels, then Ehlers-Danlos Syndrome (EDS), Hypermobile Type (previously thought to be a purely genetic disorder) may be present. The diagnostic criteria separating simple Joint Hypermobility from the more serious disorders are still murky. There is no genetic testing specific to Ehlers-Danlos syndrome, so an all-encompassing diagnosis, Hypermobility Spectrum Disorder, has recently been suggested.

Symptoms Associated with Hypermobility Syndromes

When Hypermobility syndromes are present, the same excessive connective tissue flexibility that is present in the joints can be associated with many other symptoms, which must be diagnosed and treated individually. Below, is a partial list of symptoms and signs that patients with joint hypermobility can have.

• Headaches: Most headache patients I see have often been treated with multiple medication regimens with little relief. But, I have recently have found that most of these patients have excessive neck motion and sleep problems, and if those two problems are diagnosed and treated, their headaches markedly improve.
• Autonomic, or “automatic” nervous system symptoms such as the following blood pressure regulation problems:
  • (POTS, or Postural Orthostatic Tachycardia Syndrome), which can lead to passing out and dizziness.
  • Sweating problems (hyperhidrosis).
  • Hands and feet that turn red or purple in the shower, and white in the cold (Raynaud’s Syndrome,) and indicate problems with the regulation of blood flow to the small vessels in the hands and feet.
  • Wound healing can be a problem, as well as sometimes stretch marks appearing for no reason.
• Gastrointestinal Problems: with delayed stomach emptying or gastroparesis, treated paradoxically with small amounts of acid in vinegar in these patients, instead of the anti-acid therapy usually used in other patients. Irritable Bowel Syndrome (IBS) with alternating diarrhea and constipation.  These GI symptoms may be a part of the dysautonomia present in these patients.
• Mast Cell Activation Disorder:  Skin that turns red easily with mechanical stimulation (dermographia) because of sensitive histamine-containing mast cells in the skin, that release histamine with all sorts of stimulation (food dyes, non-steroidal anti-inflammatory agents, or NSAIDS like aspirin, ibuprofen, and naproxen sodium—common joint pain and headache over-the-counter pain relievers.)
• Auto-immune disorders, like Hashimoto’s thyroiditis which causes hypothyroidism, and can be associated with many symptoms. Other auto-antibodies can also be present (ANA, Sjogren’s, and others.)
• Endometriosis and Polycystic Ovarian Syndrome—Very painful periods because of endometrial rests in the pelvic region, and irregular periods with ovarian cysts.
• Poor wound healing, and stretch marks in the absence of pregnancy or previous obesity.
• Joint pain and early onset osteoarthritis because of excessive joint stretching.
• Mononeuropathy (carpal tunnel syndrome and ulnar neuropathy at the elbow) caused by stretching of nerves that cross joints being over-stretched, with subsequent injury to that nerve. This can result in pain, numbness, and weakness in the skin and muscles supplied by the injured nerve.
• Sleep Disordered Breathing—with fatigue, restless and non-restorative sleep, and excessive daytime sleepiness present in teens and young adults, even without being overweight.

Diagnosis and Treatment

Because of the over-compartmentalization of medicine today, patients with a hypermobility syndrome are often shuttled from specialist to specialist for treatment of their multiple complaints. Rarely does anyone look for an underlying link between these prevalent hypermobility disorders. The best we have been able to do so far is to attempt to classify them genetically. But even this classification is coming into question as being helpful beyond the simple genetic classification itself. At the minimum, recognizing the presence of one of the hypermobility disorders at the outset there can have can have profound implications for the therapy of patients with hypermobility syndromes. Depending on the individual patient and the specific symptoms that disrupt their quality of life the most, this can mean:

• Unnecessary surgery of many types can be avoided.
• Harmful stretching of joints and nerves can be avoided, in favor of joint stabilization.
• The real causes of symptoms such as neck pain, back pain, fatigue, and headache can be diagnosed and treated.
• Foods provocative of autoimmune disorders, should be avoided. The Autoimmune Protocol Diet or Paleo-type diet may help, especially with GI Symptoms.
• Hypothyroid states can be treated, and Hashimoto’s Thyroiditis checked for.
• Sleep problems can be diagnosed and treated, and the real cause of fatigue and non-restorative sleep can be identified and treated.
• Joint Supplements and others may help, though that topic needs to be studied further.
• Blood pressure regulation can be improved, and epilepsy and seizures ruled out.
• Other disorders like Multiple Sclerosis can be ruled out, or appropriately treated if present.
• Unsuspected causes of stroke in young people can be identified, and secondary stroke prevention therapy initiated.
• The true causes of headache syndromes can be identified.

Deepening Our Understanding of Hypermobility Syndromes

There remains a lot of “unknowns” when it comes to Hypermobility Spectrum Disorders. It is not clear whether dietary exposure to agents can worsen the disorder and affect the immune system. We don’t know for sure whether some sort of toxin exposure, or specific dietary deficiencies, or even manipulation of the bacteria that live in our gut, can affect how Hypermobility Spectrum Disorders play out in any one particular patient. What is becoming clear, though,  is that it is important to recognize the role of joint hypermobility and its other associated symptoms in the role of headache, neck and back and other joint pain, fatigue and sleep problems, dizziness, cardiac rhythm problems, blood vessel abnormalities including cavernous hemangioma, aneurysm, stroke, aortic root dilation and arterial dissection, kidney disease, reproductive problems, and sweating and Raynaud’s syndrome. As with all the rest of medicine, diagnosis is critical to decide on appropriate treatment of any disorder. And further research into the cause of worsening symptoms, as discussed above, must be done. But recognition of the syndrome as an association of particular symptoms and signs, is a start.