EDS Resources

Empowering Patients and Educating Providers

Navigating Ehlers-Danlos Syndrome

For individuals who suspect they may be experiencing symptoms of one of the Ehlers-Danlos syndromes (EDS) or hypermobility spectrum disorders (HSD), navigating diagnosis and symptom management can be challenging. These disorders have historically lacked awareness, education and research, which has left many patients undiagnosed, misdiagnosed, and neglected by the medical community. We are working to change that through our research.

An accurate diagnosis can bring a huge feeling of validation of symptoms experienced throughout one's life...but it can also be overwhelming to be told you have a genetic condition. Although we are a research lab, we are often looked to for answers on where to begin. These resources can serve as a starting place to understand what EDS and HSD are, how they are diagnosed, and how to build the medical support team patients with these conditions need.

What are the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders?

The Ehlers-Danlos syndromes (EDS) are a group of genetic connective tissue disorders that are broken down into 13 different subtypes. The genetic mutations responsible for different subtypes of EDS cause changes in the connective tissues in your body. Connective tissues are like the glue that holds your body together. They provide support to many tissues and organ systems, including your skin, muscles, tendons, ligaments, and blood vessels. 12 of the 13 subtypes of EDS can be diagnosed by genetic testing, through connective tissue panels (like geneDX or Invitae) ordered by your doctor.

Hypermobile Ehlers-Danlos Syndrome

Hypermobile Ehlers-Danlos Syndrome (hEDS) is the most common, accounting for the vast majority of EDS cases. Despite this, it is the only subtype of EDS that cannot be diagnosed by a commercially available genetic test at this time. hEDS is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing it on to each of their children.

Hypermobility Spectrum Disorder

A hypermobility spectrum disorder (HSD) diagnosis may be made when individuals experience symptomatic joint hypermobility, and often many symptoms and comorbidities of hEDS, but do not meet the criteria for hEDS. However, it does not mean that individuals with HSD are less severely affected than hEDS patients.

What are the signs and symptoms of hEDS?

Because connective tissue is found in every organ system, hEDS can cause symptoms throughout the body. Symptom presentation can vary widely among individuals. Some of the most common signs and symptoms of hEDS include:

Joint Hypermobility

One of the hallmark features of hEDS is joint hypermobility, which refers to an unusually wide range of motion in the joints. This hypermobility can look like:

Hyperextension of joints (“Double-jointedness”)
Joint dislocations or partial dislocations (subluxations)
Feelings of instability or weakness in a joint
Joint pain that comes and goes
Clumsiness
Poor proprioception (knowing where your body is in space)

Dermatological

Skin involvement is one of the main diagnostic categories for hEDS and one of the most well-known aspects of hEDS. While the skin features seen in individuals with (hEDS) have been thought to be due to changes in the connective tissue, recent research suggests that mast cell disorders can play a large role in these symptoms. This can look like:

Stretchy or velvety soft skin
Thin, translucent skin (most common in vascular EDS)
Fragile skin (severe fragility seen in rare types of EDS)
Easy bruising
Abnormal scarring
Piezogenic papules: Soft skin colored lumps on heels or wrists when pressure is applied

Cardiovascular

While the most significant cardiac abnormalities occur more often with vascular EDS (vEDS), individuals with hEDS can have cardiac abnormalities see on echocardiograms like:

Mitral valve prolapse
Aortic root dilation

Chronic Pain

Chronic pain is a predominant feature of hEDS and can significantly impact daily functioning. This pain can vary in intensity but lasts for at least 3 months. This can look like:

Localized joint pain
Generalized pain
Pain with movement

What else causes symptoms for people with hEDS?

Comorbidities refer to additional medical conditions that can coexist with the primary condition. In the case of hEDS, individuals may experience various comorbid conditions that can increase their symptom burden and impact their quality of life. Some common comorbidities associated with hEDS can look like:

Fatigue is often seen in individuals with hEDS and can significantly impact daily functioning. It is often disproportionate to the level of physical activity and can come and go unpredictably. This fatigue can be experienced as:

Overwhelming exhaustion
A feeling of heaviness in your body
Not feeling refreshed from rest or sleep
ME/CFS (Myalgic encephalomyelitis/chronic fatigue syndrome)

Vascular compression syndromes are a group of conditions in which blood vessels are compressed or narrowed, leading to various symptoms due to decreased blood flow to certain organs or tissues. These syndromes seem to be more common in individuals with hEDS due to connective tissue laxity and can include:

Thoracic outlet syndrome
Median arcuate ligament syndrome (MALS)
Nutcracker syndrome
Superior mesenteric artery syndrome (SMAS)

Recent studies suggest the vast majority of patients with hEDS have a comorbid mental health diagnosis, sleep disturbance, or symptoms of neurodivergence. These can include:

Anxiety, depression, or panic attacks
Autism spectrum disorder, ADHD, OCD, or Tourette's syndrome
Difficulty falling or staying asleep
Sensory processing difficulties or oversensitivity to light and noise
Difficulty concentrating or staying on task
Brain fog
Memory issues

The changes in connective tissues in hEDS frequently impact the autonomic nervous system which controls essential functions like heart rate, blood pressure, digestion, and temperature control. This can be experienced as:

Dizziness or lightheadedness
Blacking out or fainting
Shortness of breath
Rapid or pounding heartbeat
Drops in blood pressure when changing position
Difficulty regulating your temperature
Excessive or reduced sweating

To learn more about the signs, symptoms and comorbidities that can occur in hEDS, you can look at our recent literature review, published in 2020.

How is hEDS diagnosed?

Diagnosing hEDS can be challenging due to its wide array of symptoms and the absence of a definitive diagnostic test. Healthcare professionals typically rely on a thorough medical history, physical examination, and evaluation of clinical criteria outlined by the 2017 International Classification of the Ehlers-Danlos Syndromes (referred to as the "2017 criteria"). You can download a printable version or access a fillable PDF of this checklist from the Ehlers-Danlos Society website.

An hEDS diagnosis is made when an individual meets all of the following three criteria:

01

Generalized Joint Hypermobility

The Beighton score is a commonly used clinical tool to assess generalized joint hypermobility. It consists of a series of nine maneuvers designed to evaluate the range of motion of specific joints, including the fingers, thumbs, elbows, knees, and spine. Each maneuver is assigned a score, with higher scores indicating greater overall joint hypermobility.

02

Symptoms & Comorbid Conditions

To determine whether your generalized joint hypermobility is part pf a syndromic condition like hEDS, you must demonstrate other symptoms and manifestations of hEDS. The features included in this section focus primarily on joint, skin, and cardiac manifestations of hEDS.

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Exclusion of Alternate Diagnoses

Many of the signs and symptoms of hEDS overlap with other disorders, including other forms of EDS, other connective tissue disorders like Marfan Syndrome, and autoimmune disorders like Lupus and Rheumatoid Arthritis. Because of this, it is important to make sure that another diagnosis doesn't explain your symptoms more fully. Genetic testing allows you to rule out the other forms of EDS that we know the genetic basis for, so even though there isn't a genetic test for hEDS, many people opt to see a geneticist during their diagnostic journey.

What doctor should I see?

Unlike conditions with a designated doctor or specialty, EDS often necessitates collaboration among different specialists who can address its impacts throughout the body. The key to proper management of EDS is to build a team of medical providers who can support you in all of the ways you are impacted.

Every person with EDS will have a different medical team depending on their age, symptom presentation, and access to experienced specialists. A starting place for people seeking providers familiar with EDS is the EDS Society's directory of healthcare professionals. Local EDS Facebook groups and online support communities can also be valuable resources for finding recommendations from other patients. These groups often provide a supportive environment where members share their experiences with different healthcare providers, including specialists who have expertise in diagnosing and managing EDS.

Some of the common specialities someone with EDS might see as part of their care team include: