Comprehensive Guide to Ehlers-Danlos Syndrome: Diagnosis, Treatment, and Long-Term Care
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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.
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):
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)
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
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:
Recurrent episodes of severe allergic-type symptoms affecting two or more organ systems
Laboratory-confirmed elevation of mast cell mediators (most commonly serum tryptase, measured within 1–4 hours of a symptomatic episode)
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
The Ehlers-Danlos Society — International nonprofit providing education, support, research funding, and a healthcare provider directory for EDS and HSD patients
Genetic and Rare Diseases Information Center (GARD) — NIH-supported resource with detailed information on all EDS subtypes, inheritance patterns, and links to clinical trials
MedlinePlus: Ehlers-Danlos Syndrome — National Library of Medicine resource with patient-friendly overviews of EDS genetics, subtypes, and management
GeneReviews: Hypermobile Ehlers-Danlos Syndrome — Comprehensive, expert-authored clinical summary of hEDS including diagnosis, management, and surveillance recommendations
NORD (National Organization for Rare Disorders) — Provides disease-specific information, patient assistance programs, and connections to clinical experts
Dysautonomia and POTS
Dysautonomia International — Patient advocacy organization providing education, physician directories, research funding, and support for individuals with POTS and other forms of autonomic dysfunction
Standing Up to POTS — Nonprofit focused on POTS awareness, education, and research support
Mast Cell Disorders
The Mast Cell Disease Society — Provides education, support, and research advocacy for patients with mast cell activation syndrome, mastocytosis, and related conditions
American Academy of Allergy, Asthma Immunology (AAAAI) — Professional society with patient education resources and an allergist/immunologist finder tool
Genetic Testing and Counseling
National Society of Genetic Counselors — Directory to locate a board-certified genetic counselor in your area
ClinicalTrials.gov — U.S. National Library of Medicine database to search for active clinical trials related to EDS, POTS, MCAS, and related conditions
General Support
Inspire EDS Community — Online peer support community for patients and families affected by EDS
Pain Connection — American Chronic Pain Association resource for chronic pain self-management tools and support groups
Questions? Talk with Dr. Duis
Dr. Duis provides comprehensive, whole-person care for complex and rare conditions through our concierge practice. Explore concierge care or contact us.
This guide is for general education and is not medical advice. Talk with your own healthcare provider about your situation. If you are experiencing a medical emergency, call 911.
