Ehlers-Danlos Syndrome (EDS)

Health Condition FAQEducation
Written By Karlie Turner

Comprehensive Guide to Ehlers-Danlos Syndrome: Diagnosis, Treatment, and Long-Term Care


What is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders that affect collagen — the protein that provides structure and support to skin, joints, blood vessels, and internal organs.

The 2017 International Classification recognizes 13 subtypes of EDS, caused by variants in at least 20 different genes. Because connective tissue is found throughout the body, EDS is a multisystem condition — symptoms can affect joints, the cardiovascular system, the gastrointestinal system, the nervous system, and more.

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What is Hypermobile EDS(hEDS)?

Hypermobile Ehlers-Danlos syndrome is the most common subtype of EDS. It is inherited in an autosomal dominant pattern, meaning it can be passed from one affected parent to a child. Unlike other forms of EDS, no causative gene has been identified, so diagnosis is based entirely on clinical evaluation.

Common features of hEDS include:

- Generalized joint hypermobility (joints that bend beyond the normal range)

- Joint instability, frequent subluxations (partial dislocations), or full dislocations

- Chronic musculoskeletal pain

- Soft, velvety, or mildly stretchy skin

- Chronic fatigue

- Symptoms of autonomic dysfunction (such as lightheadedness, rapid heart rate, or fainting)

- Gastrointestinal symptoms (reflux, nausea, constipation, bloating, early fullness)

What is a Hypermobility Spectrum Disorder (HSD)?

Patients who have joint hypermobility and related symptoms but do not meet the full diagnostic criteria for hEDS may be diagnosed with a hypermobility spectrum disorder (HSD). HSD can cause symptoms very similar to hEDS and also benefits from multidisciplinary management. The distinction between hEDS and HSD is based on how many diagnostic criteria are met, not on symptom severity.

What are common symptoms of EDS?

EDS symptoms vary widely depending on the subtype, but may include:

Joints and muscles:

- Joint hypermobility with frequent sprains, subluxations, or dislocations

- Chronic joint or muscle pain

- Early-onset osteoarthritis

Skin and healing:

- Soft, velvety, or unusually stretchy skin

- Easy bruising or bleeding tendencies

- Delayed wound healing or widened, atypical scars

Gastrointestinal:

- Acid reflux (GERD)

- Gastroparesis (delayed stomach emptying)

- Irritable bowel syndrome (IBS)

- Chronic constipation

- Pelvic floor dysfunction

Cardiovascular and autonomic:

- Postural orthostatic tachycardia syndrome (POTS)

- Lightheadedness or fainting upon standing

- Mitral valve prolapse

- Temperature regulation difficulties

Neurologic:

- Headaches or migraines

- Small fiber neuropathy (tingling, burning, or numbness)

- Chiari I malformation (in some patients)

Mental health:

- Anxiety and depression are more common in people with EDS than in the general population

Other:

- Reduced effectiveness of local anesthetics — this is important to communicate to all dental and surgical providers

- Chronic fatigue

Because EDS affects connective tissue throughout the body, many patients experience years of unexplained symptoms before receiving a diagnosis.

How is Ehlers-Danlos Syndrome diagnosed?

Diagnosis depends on the subtype.

For most forms of EDS, genetic testing confirms the diagnosis by identifying a specific gene variant. Genetic testing is recommended to rule out other subtypes and other heritable connective tissue disorders.

For hypermobile EDS (hEDS), diagnosis is clinical and requires meeting all three of the following criteria (based on the 2017 International Classification):

1. Generalized joint hypermobility, assessed using the Beighton score (a standardized physical exam scoring system; a score of 5 or higher out of 9 in adults, or 6 or higher in children and adolescents)

2. At least two of the following three features:

- Systemic signs of a connective tissue disorder (such as unusually soft or stretchy skin, stretch marks not related to weight change, hernias, or pelvic organ prolapse)

- Musculoskeletal complications (chronic pain, recurrent joint dislocations or instability)

- A first-degree relative (parent, sibling, or child) who independently meets hEDS criteria

3. Exclusion of other conditions that can cause joint hypermobility, including other forms of EDS,Marfan syndrome,Loeys-Dietz syndrome, and other heritable connective tissue disorders

The third criterion — ruling out alternative diagnoses — is especially important. In one study, genetic testing identified an alternative or additional diagnosis in over 25% of patients who initially appeared to meet hEDS criteria. Referral to a clinical geneticist or specialist experienced with heritable connective tissue disorders can help ensure accurate diagnosis.

What is the connection between EDS, POTS, and dysautonomia?

Many individuals with EDS also experience autonomic dysfunction — problems with the part of the nervous system that controls automatic body functions like heart rate, blood pressure, digestion, and temperature.

Common autonomic symptoms in EDS include:

- Postural orthostatic tachycardia syndrome (POTS) — an abnormal increase in heart rate upon standing, often with lightheadedness, palpitations, or fainting

- Orthostatic intolerance (difficulty tolerating upright positions)

- Temperature regulation difficulties (feeling too hot or too cold)

- Gastrointestinal dysmotility (slow movement of food through the digestive tract)

Large studies have found that POTS and other forms of autonomic dysfunction are significantly more common in EDS patients than in the general population. However, the exact biological mechanism linking connective tissue disorders to autonomic dysfunction is not fully understood, and the association may be influenced by other factors. Regardless of the underlying cause, these symptoms benefit from evaluation and treatment.

What about Mast Cell Activation Syndrome (MCAS)?

Some patients with EDS report symptoms that overlap with mast cell activation syndrome (MCAS) — a condition in which mast cells (a type of immune cell) release excessive chemical mediators, causing recurrent episodes of severe allergic-type reactions affecting two or more body systems.

MCAS symptoms may include flushing, hives, itching, abdominal pain, diarrhea, rapid heart rate, lightheadedness, and shortness of breath.

The association between EDS and MCAS has been reported in clinical observations, but rigorous studies using validated diagnostic criteria for both conditions have not confirmed a definitive link. The overlap may be influenced by referral patterns and the diagnostic criteria used.

MCAS diagnosis requires all three of the following:

1. Recurrent episodes of severe allergic-type symptoms affecting two or more organ systems

2. Laboratory-confirmed elevation of mast cell mediators (most commonly serum tryptase, measured within 1–4 hours of a symptomatic episode)

3. Improvement of symptoms with medications that block mast cell mediators

If MCAS is suspected, evaluation by an allergist/immunologist experienced with mast cell disorders is recommended.

How is EDS treated?

There is no cure for EDS, but management focuses on reducing symptoms, preventing injury, and improving quality of life. Treatment is individualized and may include:

Physical therapy and rehabilitation (the cornerstone of treatment):

- Physical and occupational therapy tailored to hypermobility

- Goals include strengthening muscles around joints, improving proprioception (body awareness), and enhancing joint stability

- Aquatic therapy may be particularly helpful

- Braces, splints, or compression garments to support unstable joints

Pain management:

- Tailored to the cause and type of pain

- May include physical therapy, cognitive behavioral therapy, and medications

- Chronic pain management often requires a multidisciplinary approach

Autonomic dysfunction management:

- Increased fluid intake (2–3 liters per day) and salt intake

- Compression garments (abdominal binders, compression stockings)

- Graduated exercise programs

- Medications when needed (such as fludrocortisone, midodrine, or beta-blockers for POTS)

Gastrointestinal support:

- Evaluation for gastroparesis, reflux, and pelvic floor dysfunction

- Dietary modifications (smaller, more frequent meals; avoiding trigger foods)

- Medications as needed for reflux, motility, or constipation

Cardiovascular monitoring:

- Baseline echocardiography (heart ultrasound) to screen for mitral valve prolapse or aortic root dilatation

- Follow-up imaging if any abnormalities are found

Bleeding management:

- Tranexamic acid may be helpful for patients with easy bruising or bleeding tendencies

Psychological support:

- Counseling or therapy for anxiety, depression, and the emotional impact of living with a chronic condition

- Support groups and patient advocacy organizations can also be valuable

Multidisciplinary care coordination:

- EDS often requires input from multiple specialists (rheumatology, cardiology, gastroenterology, neurology, genetics, physical medicine, psychology)

- A coordinating provider who understands EDS can help ensure all aspects of care work together.

Important precautions for people with EDS

Activity and exercise:

- Low-impact exercise (swimming, cycling, walking, Pilates) is generally recommended

- High-impact activities (collision sports, heavy lifting, contact sports) may increase the risk of joint injury and should generally be avoided

- Chiropractic adjustment and yoga are not prohibited but must be performed carefully and with awareness of hypermobility to avoid causing subluxations or dislocations

Surgical and dental care:

- Local anesthetics may be less effective — always inform dental and surgical providers about your EDS diagnosis

- Surgical outcomes may be less favorable in EDS patients due to tissue fragility and delayed healing

- Surgery should be carefully considered and performed by teams familiar with EDS whenever possible

- Discuss your diagnosis with your anesthesiologist before any procedure

Medications:

- Some patients with EDS report sensitivities to certain medications

- Always inform providers about your full medical history

Pregnancy:

- Pregnancy in EDS may carry additional risks depending on the subtype

- Pre-conception counseling with a geneticist and high-risk obstetric care are recommended

When should you see a specialist for EDS?

You may benefit from evaluation if you have:

- Generalized joint hypermobility with chronic pain

- Frequent joint injuries, subluxations, or dislocations

- A family history of EDS or hypermobility

- Multisystem symptoms without clear explanation

- Suspected hypermobile EDS or hypermobility spectrum disorder

- Symptoms of POTS, dysautonomia, or MCAS alongside hypermobility

Early diagnosis improves safety, reduces injury risk, and guides appropriate therapy.

Recommended health surveillance for people with EDS

Once diagnosed, regular monitoring helps prevent complications and catch problems early:

- Annual comprehensive assessment by a provider familiar with EDS

- Baseline echocardiography, with follow-up as recommended

- Bone density screening if risk factors are present

- Dental evaluations with providers aware of EDS-related concerns

- Periodic reassessment of physical therapy goals

- Mental health screening

- Gastrointestinal evaluation as symptoms warrant

Why whole-person care matters in EDS

EDS is not "just flexible joints."

It can affect mobility, cardiovascular stability, digestion, fatigue levels, neurologic function, and mental health. Many patients also experience overlapping conditions such as POTS and MCAS that require their own evaluation and management.

Comprehensive, whole-person care ensures that treatment plans consider the full medical picture — not just isolated symptoms. A long-term partnership with an experienced, coordinating provider is one of the most important steps toward better health and quality of life.


Resources

Ehlers-Danlos Syndrome:

International nonprofit providing education, support, research funding, and a healthcare provider directory for EDS and HSD patients

  • Genetic and Rare Diseases Information Center (GARD) — rarediseases.info.nih.gov

NIH-supported resource with detailed information on all EDS subtypes, inheritance patterns, and links to clinical trials

  • MedlinePlus: Ehlers-Danlos Syndrome — medlineplus.gov/genetics/condition/ehlers-danlos-syndrome

National Library of Medicine resource with patient-friendly overviews of EDS genetics, subtypes, and management

Comprehensive, expert-authored clinical summary of hEDS including diagnosis, management, and surveillance recommendations

  • NORD (National Organization for Rare Disorders) — rarediseases.org

Provides disease-specific information, patient assistance programs, and connections to clinical experts

Dysautonomia and POTS:

Patient advocacy organization providing education, physician directories, research funding, and support for individuals with POTS and other forms of autonomic dysfunction

Nonprofit focused on POTS awareness, education, and research support

Mast Cell Disorders:

Provides education, support, and research advocacy for patients with mast cell activation syndrome, mastocytosis, and related conditions

  • American Academy of Allergy, Asthma Immunology (AAAAI) — www.aaaai.org

Professional society with patient education resources and an allergist/immunologist finder tool

Genetic Testing and Counseling:

Directory to locate a board-certified genetic counselor in your area

U.S. National Library of Medicine database to search for active clinical trials related to EDS, POTS, MCAS, and related conditions

General Support:

Online peer support community for patients and families affected by EDS

American Chronic Pain Association resource for chronic pain self-management tools and support groups

Karlie Turner
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