Ehlers-Danlos syndrome (EDS) is a group of genetic disorders characterized by faulty synthesis of collagen proteins. Collagen is a vital component of connective tissue, which protects and supports many tissues and organs, including the skin, blood vessels, joints, and lungs. Faulty collagen in EDS can lead to overly elastic skin, joint hypermobility, atrophic scarring (a type of scar that doesn’t heal properly), and fragile blood vessels. Over the years, different types of EDS have been categorized, and in 2017, an international guideline was released with 13 variant classifications, 12 of which have known unique genetic characteristics.^{[1] [2]}

Different types of EDS present with different signs and symptoms. People with hypermobile EDS (hEDS) often present with overly flexible and unstable joints, overly stretchy and thin skin, and excessive bruising. EDS can cause a number of secondary complications, such as chronic pain (due to damage to unstable joints), dysautonomia, gastrointestinal dysmotility, mast cell activation (allergies, asthma, etc), and anxiety and phobias. Serious complications, such as vascular or organ rupture, have been reported in vascular and kyphoscoliotic EDS, but all types of EDS should be regularly monitored for serious complications.^[2]

EDS is usually first suspected due to clinical presentation such as skin hyperextensibility, atrophic scars, and shoulder dislocation. It is thought that many milder cases of EDS go undiagnosed. Diagnosis of EDS can be confirmed via genetic testing to identify the responsible gene and variant of EDS. Interestingly, the most common type of EDS (hypermobile) does not have an identified molecular and genetic cause.^{[1] [2]}

There is no known cure for EDS yet. Treatment is specific to the type of EDS, with the goal of managing symptoms (e.g., with pain medications) and preventing damage (e.g., with braces and devices to support joints). It is recommended that patients with EDS be regularly monitored by specialists including cardiologists, rheumatologists, and orthopedists. Preventative measures for cardiovascular complications can include monitoring using tests like echocardiograms (ultrasound of the heart) and management of blood pressure and cholesterol levels. Any wounds usually require special attention due to slowed skin healing.^[2]

Dietary supplements have not been formally studied for EDS. However, supplements may be recommended to correct nutritional deficiencies linked with EDS and to manage symptoms. For example, hEDS has been linked with low vitamin D levels, so supplementation with vitamin D is often recommended. Anecdotally, vitamin C has been tried to improve wound healing and skin fragility, glucosamine for joint pain, and carnitine and coenzyme Q10 for fatigue and muscle weakness.

People with hEDS seem to have more frequent gastrointestinal (GI) complaints including constipation, diarrhea, abdominal pain (possibly due to slowed gastric emptying and abnormal colorectal transit). These symptoms seem to result in suboptimal nutrient intake, changes in nutrient utilization, and unintended weight loss. Dietary modifications, such as following a low FODMAP diet and increasing soluble fiber, have alleviated GI symptoms in other conditions and have been suggested for people with EDS.^[3]

Prevention of complications is a key approach in treatment of all types of EDS. Physical and occupational therapy, as well as regular moderate exercise, have been used to prevent joint dislocations, preserve joint function, reduce chronic pain, and slow onset of osteoarthritis.^[2]

EDS is caused by inherited gene mutations in collagen processing and synthesis. The different EDS variants involve different mutations with either autosomal dominant or recessive inheritance. Collagen is vital to all body systems, and different gene mutations can affect various types of collagen in different parts of the body, resulting in multiple distinct EDS variants and symptoms. These inherited defects in collagen result in significant vulnerability of various body organs and an increased risk of serious injury from standard activities that do not pose a risk to people without EDS.^[2]