Hypermobility Spectrum Disorder (HSD)/Hypermobile Ehlers Danlos Syndrome (hEDS)

Overview:

Hypermobility Spectrum Disorder (HSD)/Hypermobile Ehlers Danlos Syndrome (hEDS) is a medical condition characterized by excessive joint flexibility and hypermobility. The differences between these two diagnoses lies in their diagnostic criteria, genetic associations, and the severity of associated symptoms. Both conditions are considered a milder form of hypermobility-related disorders when compared to Ehlers-Danlos Syndrome (EDS). HSD/hEDS are inherited conditions that weaken connective tissues, often resulting in persistent, widespread joint pain. The most recent estimate places its incidence at approximately 1 in 500 individuals globally, with a much higher prevalence among women. Regrettably, it remains extremely under-diagnosed. This condition may lead to complications such as delayed wound healing, joint dislocations and early-onset arthritis. Its excessively stretchy ligaments can cause joint instability and dislocation. Typically, pain arises between ages 20 and 50 and can become chronic and generalized.

Diagnosis:

The Hartford Hospital Pain Treatment Center (HHPTC) excels in diagnosing and managing this debilitating condition. Diagnosis primarily relies on a clinical evaluation, encompassing a physical examination and a comprehensive patient and family history. Although the specific genes associated with HSD/hEDS are yet to be determined, there is a clear hereditary component.

Accurate identification of the condition is pivotal in enabling patients to access tailored treatment. Diagnosis can be challenging due to the wide array of symptoms, which can overlap with other pain disorders such as chronic fatigue syndrome and fibromyalgia.

Symptoms:

People with HSD/hEDS may experience musculoskeletal symptoms, including joint pains, neck pains, headaches, lower back pains, muscle pains, and a higher likelihood of joint dislocations or subluxations (partial dislocations). These symptoms can vary in intensity and location.

Additional symptoms that may be associated with HSD/hEDS are:

• Chronic Fatigue
• Brain Fog: cognitive difficulties like memory problems, difficulty concentrating, and mental clarity issues. Possibly related to autonomic nervous system dysfunction - noted below.
• Increased Anxiety: research suggests that there may be a genetic link between hypermobility and anxiety disorders, although the exact mechanisms are not fully understood.
• Mast cell activation syndrome symptoms, symptoms may include:
  • Skin symptoms: itching (pruritus), hives (urticaria), swelling (angioedema) and skin turning red (flushing).
  • Gastrointestinal symptoms: diarrhea, constipation, bloating, abdominal cramping
  • Lung related symptoms: wheezing, shortness of breath
• Autonomic nervous system dysfunction & Postural Orthostatic Tachycardia Syndrome (POTS), symptoms may include:
  • Dizziness and fainting, when standing, caused by a sudden drop in blood pressure
  • Urinary problems, such as difficulty starting urination, loss of bladder control, difficulty, sensing a full bladder and inability to completely empty the bladder. Not being able to completely empty, the bladder can lead to urinary track infections.
  • Sexual difficulties
  • Difficulties, digesting, food, such as feeling full after a few bites of food, loss of appetite, diarrhea, constipation, abdominal bloating, nausea, vomiting, difficulty, swallowing and heartburn.
  • Sweating problems, such as sweating too much or too little.
  • Sluggish pupil reaction, making it difficult to adjust from light to dark and seeing when driving at night

• While not everyone with hEDS and HSD will develop an auto-immune conditions, there is a higher likelihood of co-occurrence than the general population. Some autoimmune disorders associated with hEDS include:
• • Lupus (Systemic Lupus Erythematosus, SLE): Lupus is an autoimmune disease that affects multiple organs and tissues, including joints, skin, kidneys, and the nervous system.
  • Rheumatoid Arthritis (RA): RA is an autoimmune disorder that primarily affects the joints, leading to pain, swelling, and joint damage.
  • Sjögren’s Syndrome: Sjögren’s syndrome is an autoimmune condition that primarily affects the salivary and tear glands, leading to dry mouth and eyes.
  • Hashimoto’s Thyroiditis: This autoimmune disorder targets the thyroid gland, leading to an underactive thyroid (hypothyroidism).
  • Psoriasis: Psoriasis is a chronic skin condition driven by the immune system. While it primarily affects the skin.
  • Inflammatory Bowel Disease (IBD): Crohn’s disease and ulcerative colitis are two forms of IBD, both of which are autoimmune conditions that can affect the gastrointestinal tract.
  • Autoimmune Dysautonomia: Autonomic dysfunction is common in hEDS, and in some cases, it can have an autoimmune component, resulting in autonomic neuropathy or other dysautonomia disorders.
  • Celiac Disease: Celiac disease is an autoimmune condition triggered by the consumption of gluten.
  • Raynaud’s Phenomenon: While not a classic autoimmune disorder, Raynaud’s phenomenon can be associated with autoimmune conditions and is sometimes seen in individuals with hEDS.
• Small Fiber Neuropathy: neurological disorder that affects the small nerve fibers in the skin. presenting with a burning, tingling, or shooting, sensation.  
• Complex regional pain syndrome (CRPS)/reflex sympathetic dystrophy (RSD): a neurologic chronic pain condition that typically affects one limb, usually an arm or leg, following an injury or trauma.
• Tethered Spinal Cord

Treatment:

While there is no cure for EDS, effective management is attainable, tailored to individual symptoms. A multidisciplinary approach is optimal for pain management. Coordination of care may involve various specialties, including physical rehabilitation, neurology, cardiology, allergy, gastroenterology, neurosurgery, psychology, nutrition, and integrative medicine.

Given the limited understanding of HSD/hEDS within the medical community, it is paramount to seek out healthcare professionals and specialists who have a thorough grasp of this condition.

Below are just some highlights of treatments:

• Physical therapy and assistive devices are often foundational in stabilizing affected joints and helping with the associated musculoskeletal pains.
• Medications can help with joint pains and some of the other symptoms. Complementary therapies such as massage, acupuncture, dry needling, trigger point injections, PEMF mats and red light therapy can provide some relief.
• Mindfulness practices like meditation and tai chi can enhance overall well-being.

Identifying the causes of headaches and neck pains are crucial. A common cause of headaches is due to the cervical/neck C2-3 facet joint hyper-motion. Radio-frequency ablation of the cervical facet joint as well as treatments such as peripheral nerve stimulation (ie. Sprint PNS) can be very successful in treating these facet joint causes of headaches and neck pain. There are some less common causes of headaches, such as the leakage of CSF fluid from nerve root cysts in the spinal column that also need to be considered. 

Lower back pains are commonly secondary to the sacroiliac joint dysfunction/pelvic obliquity in these patients. Treatment of this joint, including physical therapy, sacroiliac joint injections, pelvic belts, peripheral nerve stimulation and sacroiliac joint ablation are some treatments geared at treating this sacroiliac joint condition. Other musculoskeletal conditions affecting the lumbar region all need to be evaluated in order to offer the appropriate treatment. 

Surgical intervention may be considered depending on the underlying cause of the pain condition.  

Managing and treating anxiety, depression, brain fog and fatigue is crucial. Many patients benefit from cognitive-behavioral therapy. Psychological support aids patients in coping with pain, reducing stress, and improving sleep. The HHPTC has found that Alpha-Stim devices can be very effective in helping with the anxiety component commonly associated with HSD/ hEDS. The HHPTC also offers on-site pain psychology services to assist patients. 

The Ehlers-Danlos Society provides valuable education and support groups. Individuals can share their experiences at https://www.ehlers-danlos.com. 

The experts at The Hartford Hospital Pain Treatment Center are committed to providing multidisciplinary care and crafting individualized treatment plans to address specific symptoms, ultimately fostering a productive and more pain-free life for patients.