Ehlers Danlos Syndromes (EDS) is a term that describes a group of inherited disorders that affect the connective tissues. These disorders have been linked to a genetic anomaly in connective tissue structure and collagen deficiency. In some cases, the defective gene is not inherited but occurs in a patient for the first time. EDS affects individuals of all races and ethnic backgrounds with complications that can progress over time.
Connective tissues hold and give structure to the skin, bones, organs, and blood vessels. They consist of cells, fiber, and collagen. Connective tissue defects are responsible for the signs and symptoms of EDS - joint hypermobility, elastic skin, fragile skin, muscle pain, muscle fatigue, heart valve conditions, skin folds on the eyes, and benign growth on elbows and knees. These symptoms range from mild to life-threatening in some cases.
Some individuals may present symptoms of joint pain, instability, or hypermobility that are similar to EDS. However, the absence of connective tissue disorders makes it inaccurate to describe such conditions as EDS. Conditions of joint pain, instability, and hypermobility without connective tissue are broadly grouped as Hypermobility Spectrum Disorders (HSD).
The symptoms of EDS overlap with several other conditions leading to frequent misdiagnosis as fibromyalgia, Marfan's Syndrome, and even depression.
Joint Hypermobility Syndrome (JHS)
Joint Hypermobility Syndrome (JHS) is a common inherited syndrome characterized by joint movement higher than normal. Up to five percent of the population suffers from some form of joint hypermobility. JHS is thought by some experts to be an underlying feature of Ehlers Danlos Syndrome
JHS is more or less benign but comes with an increased risk of joint pain, dislocation, and discomfort. Children are more likely to suffer from JHS, though the condition decreases with age. Some patients may require physiotherapy to improve muscle strength and joint stability. However, most cases have no symptoms and do not require treatment.
Types of EDS
Experts have classified Ehlers Danlos Syndrome into 13 subtypes, Most of these subtypes are rare and have overlapping symptoms. There are four prominent types of Ehlers Danlos Syndrome.
Hypermobile EDS (hEDS) is the most common EDS subtype. This condition is generally marked by joint hypermobility affecting large and small joints. hEDS makes the joints bend farther than normal. Thus, they are easier to sprain or dislocate. About one in 10,000 people are thought to have this form of EDS.
There are currently no genetic or biological markers for hEDS. The condition is diagnosed based on assessing a patient's physical condition and medical records. hEDS is frequently associated with comorbidities such as bloating, acid reflux, nausea, vomiting, and autonomic disturbances.
Classical EDS is marked by stretchy, smooth, fragile skin that is bruised easily. Scarred elbows and knees are also common among sufferers. Sprains, dislocations, and heart valve problems are also common. Mild forms of classical EDS often have no manifestations. About one in 30,000 individuals suffer from classical EDS.
Vascular EDS is the most common subtype and is considered the most severe. It is marked by extremely fragile skin, with reduced-fat that bruises easily. The fragility of the skin also exposes the blood vessels and organs like the uterus and the intestines to a higher risk of rupture.
Kyphoscoliotic EDS is rare and marked by early spine curvature that worsens during the teenage years (progressive scoliosis). Sufferers have fragile corneas that may cause blindness and soft, elastic skin that scars easily.
Other subtypes of EDS include:
Brittle Cornea Syndrome
Classical-like EDS (cIEDS)
Musculocontractural EDS (mcEDS)
Myopathic EDS (mEDS)
Periodontal EDS (pEDS)
Cardiac-valvular EDS (cvEDS)
Treatment of EDS
EDS and associated conditions of joint hypermobility currently have no cure. Treatment is multi-pronged and aimed at reducing symptoms, as well as preventing the occurrence of complications. The symptoms vary by subtype, and treatment procedures are devised accordingly.
A specialist will typically provide specific care within the field in which a patient has a pathology. For instance, a dermatologist will handle skin concerns, a rheumatologist will take care of issues related to connective tissues, an orthopedist will handle problems related to joints and bones, while a cardiologist will treat patients with complications related to the heart and blood vessels.
After a doctor has determined the EDS subtype, the next step is to develop a treatment plan.
Physiotherapy is one of the primary ways of managing EDS and associated conditions. It offers a multidimensional treatment intervention for EDS aimed at decreasing patient disability.
Physiotherapy improves muscle tone and coordination, reducing the likelihood of joint dislocation. The physiotherapist works with the patient to locate weak muscles and know the body's areas that need strengthening.
In the AI-based medical treatment crowdsourcing platform StuffThatWorks, physiotherapy is ranked as the most frequently tried treatment option for EDS with varying degrees of effectiveness.
Physiotherapy helps improve reduced-fat knee function, body awareness, and balance. Endurance exercises in physiotherapy reduce pain and improve functions.
Studies are pointing to improvements in psychological and social behavior in kids that undergo extensive physiotherapy.
What to Expect in Physiotherapy?
Physiotherapy sessions begin with a physical examination. Your specialist will put you through a series of tests to determine your strength and range of motion. You will have to discuss and set short and long-term treatment goals like strength recovery and muscle strengthening.
The physiotherapist will devise and modify future sessions based on the level of progress the patient is making. Home therapy sessions are usually created to allow the patient to continue working at home to hasten progress. These exercises may include swimming, walking, cycling, and aerobic conditioning.
Other Ways of Managing EDS
There are other treatment options in addition to physical therapy, such as:
Braces promote joint stability and decrease the risk of dislocation in the joints of the vertebrae and upper extremities. Wheelchairs and other assistive devices can also enhance mobility and overall quality of life by reducing pain and risk of dislocation. However, the goal of therapy is to get the patient to become completely independent, so assistive devices should be prescribed with discretion.
Drugs and Supplements
PAinkillersand other medications can help reduce joint pain, while supplements like calcium and vitamin D can help bone strength.
Invasive procedures are controversial and not typically used in treating EDS cases due to the diminished healing, scarring risk, and the increased possibility of ruptured blood vessels. However, subtypes like the vascular and classic EDS sometimes lead to complications that may require orthopedic surgical procedures.
Lifestyle Adjustments in Managing JHS/hEDS
Certain lifestyle adjustments may also be recommended as an addition to therapy:
Wearing pads and other protective clothing to prevent cuts and bruises
Avoiding strenuous exercises and sport that put pressure on the joints
Using only soft-bristled toothbrushes to avoid injury
Writing with thinks pens to avoid straining the fingers
There is currently no cure for Ehlers Danlos Syndrome and related conditions. However, the outlook of the diseases is highly positive if proper measures are adopted. Physiotherapy and other management methods are helpful and increase quality of life.
If you or a loved one has EDS, your doctor should work with you to create a management regimen that promises the best possible outcome.
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