Ehlers-Danlos Syndrome (EDS)

Musculoskeletal

Ehlers-Danlos syndrome is a group of genetic disorders that affect the body’s connective tissues that support the bones, joints, blood vessels, organs, and tissues. The primary type of Ehlers-Danlos is known as joint hypermobility syndrome or JHS. Hypermobility means the joints move farther and more easily than most people’s joints. Hypermobile people can often do tricks that look like contortion and hypermobility and are often valued in gymnasts and dancers. Sometimes, these people have chronic joint injuries due to hypermobility and may even have joint dislocations or popping out of the socket. Hypermobile type Ehlers-Danlos syndrome occurs in 1 in 5,000 people worldwide, but there are rarer types of Ehlers-Danlos that occur in 1 in 40,000 people. Rarer types of Ehlers-Danlos syndrome may show signs and symptoms that include soft-velvety skin, bruising easily, and bleeding problems.

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Symptoms

  • Weak muscles
  • Chronic joint pain and stiffness
  • Hypermobile joints (neck, shoulders, back, hips, knees, ankles, wrists, and elbows)
  • Upper back pain and lower back pain
  • Mitral valve prolapse and uterine prolapse
  • Hernias and gastroesophageal reflux disease (GERD)
  • Skin bruises may appear without any cause
  • Dry mouth or constant thirst, often with a craving for salty foods.

Many people with JHS also have problems with their autonomic nervous system, the part of the nervous system that regulates circulation, breathing, and digestion. This can lead to symptoms such as lightheadedness, palpitations, and digestive problems. They can often find it difficult to adjust to both cold and warm temperatures. There is an increased incidence of allergies and asthma in people with JHS. Muscle strains and spasms are common. Any repetitive movement, such as walking, lifting, or carrying can be painful. Simple activities of daily life like standing or sitting, cleaning a kitchen counter, or bending down to pick up laundry can be painful.

People with JHS are more prone to get problems of the spinal column like disc herniation, slippage of a vertebra, etc. These cause severe back pain that may radiate to the legs.

They are more prone to get osteoarthritis and earlier than others. Inflammation of the rib cage, costochondritis may occur leading to severe chest pain. People with JHS may have neuropathic pain, which may be felt as a burning, stinging, tingling, shooting, and numbing, even without disc herniation Increased incidence of bone-thinning – osteoporosis and osteopenia. People with JHS often struggle with fatigue. They have problems sleeping and may have chronically poor sleep The chronic pain, delayed diagnosis, and fatigue may lead to concurrent depression. An increased incidence of anxiety problems has been found in people with JHS by some researchers. The genetic link, if any, has not been found yet.

Types

There are several types of Ehlers-Danlos syndrome (EDS). The main types include:
Classical (EDS I and EDS II). Most common form. Classical types of EDS are characterized by fragile skin that is hyper-elastic (stretches easily) and joint hypermobility. This disorder is inherited as an autosomal dominant trait, or inherited by one parent who carries the gene.

Hypermobile (EDS III). Inherited by one parent who carries the gene. EDS III is characterized by extreme joint hypermobility. This type moderately affects the skin and does not cause tissue fragility.

Vascular (EDS IV). The most severe form of the disorder. People with EDS IV have shortened life spans with death usually caused by rupture of internal organs like arteries or intestines. The skin is not hyper-elastic but appears translucent and is thin and fragile. There is limited joint hypermobility in these cases. People with vascular type EDS will have a distinct facial appearance.

Other types of Ehlers-Kronos syndrome include:

  • Kyphoscoliotic
  • Arthrochalasia
  • Dermatosparaxis
  • Cardiac-valvular
  • Brittle cornea
  • Spondylodysplastic
  • Musculocontractural
  • Periodontal
  • Myopathic

Diagnosis

The diagnosis of Ehlers-Danlos syndrome is usually made during a physical exam that includes asking if you have a family history of hypermobility or Ehlers-Danlos. The characteristic fragile and/or stretchy skin combined with hypermobile joints are used as diagnostic indicators for the classical types of EDS (I and II). A blood test can confirm rarer cases of Ehlers-Danlos to identify genetic markers. The hypermobile type does not have a genetic test that can diagnose EDS, but there are criteria tests that doctors may use to confirm the diagnosis and measure a person’s degree of hypermobility. These include:

Beighton Scoring System. Measures the degree of hypermobility on a 9-point scale. The joints examined are the knuckles of the pinky fingers and the thumbs, elbows, knee, and spine. One point is assigned for the ability to accomplish each of the following movements:

  • Bending your small finger back further than 90 degrees
  • Bending your thumb forward to touch your forearm
  • Hyper-extending your elbows and knees, that is bending them beyond a straight line

Revised Diagnostic Criteria. Include major and minor criteria for diagnosis. The minor diagnostic criteria for JHS are a Beighton score of 4/9 or greater (either currently or historically)
and joint pain for longer than 3 months in four or more joints. The major criteria include:

  • A Beighton score of 1, 2 or 3/9 (0, 1, 2 or 3 if aged 50+)
  • Joint pain in one to three joints or back pain
  • Dislocation in more than one joint, or in one joint on more than one occasion
  • Three or more soft tissue lesions (e.g. epicondylitis, tenosynovitis, bursitis)
  • Marfan-like habitus (tall, slim, span > height, upper segment: lower segment ratio less than 0.89, abnormally long and slender fingers in comparison to the palm)
  • Skin striae, hyperextensibility, thin skin, or abnormal scarring
  • Eye signs: drooping eyelids or myopia or antimongoloid slant
  • Varicose veins or hernia or uterine/rectal prolapse

Note: The JHS is diagnosed in the presence of 2 major criteria or 1 major and 2 minor criteria or 4 minor criteria. 2 minor criteria will suffice where there is an unequivocally affected first-degree relative. JHS is excluded by the presence of Ehlers-Danlos syndromes (other than the EDS hypermobility type formerly EDS III) or Marfan syndrome.

Treatments

No treatment can treat the abnormal collagen and hypermobility. The mainstay of management of muscle and joint symptoms is to relieve muscle spasms, strengthen the muscles, prevent joint damage, and reduce pain both in the short term and long term. It is often necessary to take medication for pain relief. Various exercise regimes have been found useful, like pilates, customized home exercises, tai-chi, and core-strengthening isometric exercises. Physical therapy with an experienced physiotherapist is often essential to strengthen the muscles, retrain in proprioception, and regain stability in joints. Consultations with multiple specialists may be needed to address other associated problems. Psychological counseling may be required in some people.

Alternative Treatments and Home Remedies

Be sure to talk to your primary healthcare provider before starting any new therapy or taking any kind of nutritionalsupplement. Alternative treatments for Ehlers-Danlos are centered around promoting joint and bone health, muscle relaxation, psychological support, and mental health therapies. These include:

  • Nutritional supplements (i.e., vitamin D, calcium, silica, carnitine)
  • Cognitive-behavioral therapy (CBT)
  • Mindfulness-based stress reduction (MSBR)
  • Massage
  • Transcutaneous electrical nerve stimulation (TENS)
  • Acupuncture
  • Gentle stretching exercises
  • Epsom salt baths
  • Myofascial release
  • Heat therapy
  • Ultrasound

References

Hamosh, Ada. (2021). Hypermobile Ehlers-Danlos. Retrieved from Johns Hopkins Medicine: https://www.hopkinsmedicine.org/institute-genetic-medicine/_documents/hypermobility-eds-referral-letter-2018.pdf

Malfait, F., et. al. (2017). The 2017 international classification of the Ehlers-Danlos syndromes. American Journal of Medical Genetics, Part C (Seminars in Medical Genetics, 175C, 8-26. Retrieved from the Ehlers-Danlos Society: https://www.ehlers-danlos.com/pdf/2017-FINAL-AJMG-PDFs/Malfait_et_al-2017-American_Journal_of_Medical_Genetics_Part_C__Seminars_in_Medical_Genetics.pdf

Metro-North Hospital and Health Service. (2020, September). Ehlers-Danlos syndrome information sheet. Retrieved from Metro North Hospital and Health Service: https://metronorth.health.qld.gov.au/wp-content/uploads/2019/03/ghq-eds-factsheet.pdf

National Center for Advancing Translational Sciences. (2017, April 20). Ehlers-Danlos syndromes. Retrieved from National Institute of Health: https://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndromes

Snuggs, P. R. (2003, November). An educator’s guide: Meeting the needs of the Ehlers-Danlos child. Retrieved from the Ehlers-Danlos Society: https://ehlers-danlos.com/wp-content/uploads/Educator-Parent-Guide-2016.pdf

Song, B., et. al. (2020, July/August). Ehlers-Danlos syndrome: An analysis of the current treatment options. Pain Physician, 23, 429-438. Retrieved from PubMed: https://pubmed.ncbi.nlm.nih.gov/32709178/

Steinmann, B., Royce, P. M. & Superti-Furga, A. (2002, January). The Ehlers-Danlos Syndrome. Connective Tissue and Heritable Disorders, Chapter 9, 431-523. Retrieved from ResearchGate: https://www.researchgate.net/publication/305043298_The_Ehlers-Danlos_syndrome

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