What are the Ehlers-Danlos Syndromes?

Collagen is the most abundant protein in the human body.(3) It makes up a number of different tissues in the body, like skin, bones, tendons and ligaments, organs, blood vessels, and the intestinal lining, and provides them with strength, structure, and support. Collagen also plays other roles, such as helping new cells grow in the dermis (middle skin layer), replacing dead skin cells, providing protective covering for organs, giving structure, strength, and elasticity to the skin, and helping blood clot.(3) In EDS, one or more of the genes for the 28 different types(3) of collagen are altered, so that collagen doesn’t work quite right. The effects can be mild or life-threatening, especially in the cases of people with vascular EDS (vEDS) whose heart and vasculature systems are especially fragile.

The severity of the EDS symptoms varies greatly between subtypes and among patients. The condition is degenerative, meaning it gets worse over time. Many people with EDS have a normal life span, and most require monitoring by physicians to help manage symptoms and find appropriate treatment.

EDS is related to hypermobility spectrum disorder(4) (HSD) in which patients can show some of the symptoms of EDS, like joint hypermobility and pain, but may lack other symptoms that would signify a diagnosis of hEDS. Since neither hEDS or HSD have a currently know cause, they could be distinct in a molecular or genetic way, or they could be the same disorder, just manifesting in different ways(5).

Risk Factors for and Prevalence of EDS

The only risk factor for getting EDS is having a family member who has it. Some cases of EDS are due to spontaneous mutations of genes.

Hypermobility subtype (hEDS) is the most common subtype of EDS (some say one in 3005 while others say one in 3,100-5,0001) while some of the rarer types, like periodontal EDS (pEDS), kyphoscoliotic EDS (kEDS), myopathic EDS (mEDS), among others, affect less than one in one million people.(1)

Symptoms of EDS

Each sub type of EDS will present with its own symptoms (6); these are some of the more common symptoms across sub types.

• Joint hypermobility (usually assessed used the Beighton scale (7))

• Joint instability and dislocations, sometimes with little provocation

• Hyperextensible, thin skin that may bruises easily and not heal well when broken

• Tissue sensitivity--skin, blood vessels, gums, abdominal organs, and more

• Chronic pain

• Extreme fatigue/brain fog

• Digestive system problems, like heart burn, motility issues, constipation

• Headaches

• Autonomic dysfunction, most commonly postural orthostatic tachycardia syndrome (POTS)

• Mast cell activation disorders, often found in a trifecta with hEDS & POTS

• Anxiety and depression

Diagnosis for and Treatment of EDS

Diagnosing EDS starts with a medical provider taking a patient and family history. They will then observe and documenting current symptoms, like flexibility, hypermobility, skin texture and fragility, and more. Many types of doctors diagnose EDS; some primary care providers feel comfortable doing it, especially if hEDS is suspected, as there is a clear diagnostic checklist for it.(8) Other providers who frequently diagnose EDS include rheumatologists, pain management doctors, orthopedic doctors, and even physical therapists.

If a type of EDS other than hEDS is suspected, the patient may be sent for genetic testing to confirm that diagnosis. Genetic testing is not necessary in a lot of cases, if symptomology is clear. HEDS patients, however, can only be diagnosed by symptoms, as there is currently no known cause of hEDS. 

There is currently no direct treatment for the Ehlers-Danlos syndromes, so treatment is usually based on which symptoms are the most troublesome. Since there is no "connective tissue doctor," many people with EDS amass a team of doctors and other providers to deal with the symptoms that can be body-wide.(1)

Some basic steps that may help symptoms of EDS include:

• Good sleep hygiene

• Resting when the body starts to hurt

• Stretching and gentle movement routines under the supervision of a knowledgeable doctor or physical therapist

• Over the counter or prescription pain medications (oral and topical)

• Bracing troublesome joints

• Eating a well-balance diet that includes foods that don’t trigger gastrointestinal symptoms

• Staying hydrated

• Regular mental health care (dealing with a rare, misunderstood condition can lead to anxiety, depression, post-traumatic stress disorder, and more)

• Avoiding activities that may put extra strain on joints or cause trauma to the skin

Other more complex or invasive options, such as joint injections, various surgeries, and symptom-specific treatments can be discussed with appropriate medical providers. Some of these treatment options will be helpful and some won't--what works for one EDS patient may not be helpful to others.(1)

Many EDS patients find alternative treatments helpful, such as massage, acupuncture, prolotherapy, and chiropractic care. Any EDS patient wishing to try alternative forms of care should speak with their medical provider before trying them to avoid injury and symptom flares. 

There is currently no cure for EDS. Many people with EDS have a normal life span, and most require monitoring by physicians to help manage symptoms and find appropriate treatment. The key to EDS treatment and therapy is to create a plan specific to each patient's symptoms, severity, goals, and lifestyle that feels achievable for the patient.

1.     https://www.ehlers-danlos.com/what-is-eds/

2.     https://www.ehlers-danlos.com/eds-types/

3.     https://my.clevelandclinic.org/health/articles/23089-collagen

4.     https://www.ehlers-danlos.com/what-is-hsd/

5.     https://www.chronicpainpartners.com/heds-or-hsd-study-question-diagnostic-criteria/

6.     https://www.nhs.uk/conditions/ehlers-danlos-syndromes/

7.     https://www.ehlers-danlos.com/assessing-joint-hypermobility/

8.     https://www.ehlers-danlos.com/heds-diagnostic-checklist/