Ehlers-Danlos Syndrome (EDS)
- IWBCA
- Jan 28
- 29 min read
Ehlers-Danlos syndrome is a group of inherited connective tissue disorders that affect collagen, the body’s structural scaffold for joints, skin, blood vessels, and organs, which is why symptoms can be widespread and lifelong. It is often described as rare, with a minimum estimate of 1 in 5,000 worldwide, yet underdiagnosis is common, and prevalence appears substantially higher when hypermobile EDS is considered alongside hypermobility spectrum disorders, a broader umbrella affecting millions globally. EDS ranges from hypermobile and classical forms, which often involve joint instability, chronic pain, fragile or stretchy skin, fatigue, autonomic and gastrointestinal problems, to vascular EDS, which is less common but carries an elevated risk of arterial and organ rupture.
Overview
What is Ehlers-Danlos Syndrome (EDS)?
Ehlers-Danlos syndrome, often called EDS, is a group of inherited conditions that affect the connective tissues in your body. Connective tissues are the “support structures” that keep your body held together and working properly. They help stabilize your joints, support your organs, and give strength and flexibility to your skin, blood vessels, and other tissues.
Connective tissues are made from structural proteins, especially collagen and elastin. In EDS, changes in the genes that guide collagen production lead to collagen that is weaker or formed in an unusual way. When collagen is weak, the connective tissue cannot provide normal strength and support. This can lead to joints that move too far, skin that stretches or bruises easily, and tissues that are more prone to injury.
Because connective tissue is found throughout the body, EDS can affect many areas at the same time. Symptoms may range from mild joint looseness to significant pain, frequent joint dislocations, fragile skin, poor wound healing, or problems with blood vessels and internal organs. How you experience EDS depends on which tissues are most affected and which subtype you have.
Common areas of the body affected by EDS include:
Skin: Skin may feel soft or velvety, stretch more than usual, bruise easily, or form thin, widened scars after injuries or surgery.
Joints and Ligaments: Joints may bend further than expected, feel unstable, dislocate, or “pop out,” or cause pain during everyday activities.
Muscles and Tendons: Muscles often work harder to stabilize loose joints, which can cause fatigue, muscle pain, and a feeling of weakness or heaviness.
Blood Vessels and Heart: In some types of EDS, blood vessel walls and heart valves may be fragile, increasing the risk of vascular complications or valve problems.
Bones and Spine: Changes in connective tissues can contribute to spinal curvature, flat feet, or early joint wear and tear.
Organs and Other Soft Tissues: Hernias, organ prolapse, and pelvic floor problems can occur when supporting tissues are weaker than they should be.
Categories
Is there more than one type of this disease?
Healthcare professionals currently classify Ehlers-Danlos syndrome into 13 subtypes. Each subtype has a characteristic pattern of symptoms, a typical age of onset, and specific tissues that are most affected. For 12 of these 13 subtypes, researchers have identified a clear genetic cause that involves collagen or related connective tissue proteins. Some features overlap between types, so a diagnosis usually relies on a detailed medical history, a focused physical exam, family history, and, when possible, genetic testing.
Hypermobile EDS (hEDS)
Hypermobile EDS is the most common subtype and the one many people think of when they associate EDS with “double-jointed” or very flexible joints. Key features often include:
Generalized joint hypermobility that affects several large and small joints, sometimes from early childhood. Joints may bend beyond the expected range and feel loose or unstable.
Frequent sprains, subluxations, and dislocations are often triggered by everyday movements rather than major injuries.
Chronic musculoskeletal pain can involve joints, muscles, and the spine. Pain may be widespread and can worsen with activity, prolonged standing, or repetitive tasks.
Significant fatigue that feels out of proportion to activity level, often linked with poor sleep quality and chronic pain.
Soft or mildly stretchy skin that may feel smooth or velvety, although the skin is usually less fragile than in classical or vascular forms.
Frequent bruising and mild scarring in some individuals, but usually without the very wide, “cigarette-paper” scars seen in classical EDS.
A high rate of associated conditions, such as autonomic dysfunction (including postural orthostatic tachycardia syndrome), gastrointestinal symptoms similar to irritable bowel syndrome, pelvic floor dysfunction, headaches, and anxiety or mood symptoms.
Unlike other subtypes, a single consistent genetic cause for hEDS has not yet been identified. Diagnosis is based on clinical criteria that combine joint hypermobility, specific symptom clusters, and family history.
Classical EDS (cEDS)
Classical EDS is a well-defined subtype that prominently affects skin and joints. It is often linked to changes in the genes that help form type V collagen. Defining features usually include:
Markedly stretchy (hyperextensible) skin that can be pulled away from the body more than expected and then returns to its place.
Skin that feels soft or doughy and is more prone to tearing with relatively minor trauma.
Characteristic scarring, often described as thin, wide, or “cigarette-paper” scars, is particularly on the knees, elbows, shins, forehead, and other areas that experience frequent bumps or falls.
Frequent bruising and slow wound healing. Even small cuts can take longer to heal and may stretch out over time, creating larger scars.
Generalized joint hypermobility with recurrent sprains, subluxations, or dislocations. Some people have pes planus (flat feet), spinal curvature, or other skeletal alignment changes.
Stretch marks that appear early in life or in areas that have not experienced major changes in weight or growth.
Classical EDS usually follows an autosomal dominant inheritance pattern, which means a person can be affected if they inherit one altered copy of the relevant gene from either parent. Genetic testing can confirm the diagnosis in many cases.
Classical-Like EDS (clEDS)
Classical-like EDS closely resembles classical EDS but has distinct diagnostic features and a distinct genetic background. It is typically associated with mutations in genes involved in collagen-related proteins and is often inherited in an autosomal recessive pattern. Important characteristics can include:
Soft, stretchy skin that may be hyperextensible, but sometimes to a lesser degree than in classical EDS.
Marked skin fragility with frequent tears, especially over bony areas or in response to relatively minor trauma.
Easy bruising that may be more pronounced than in some other subtypes. Bruises can be large or appear without a clear cause.
Generalized joint hypermobility with recurrent sprains, subluxations, and joint pain. Children may experience delayed motor milestones, frequent falls, or clumsiness due to joint instability.
Scarring that can be atypical but may look somewhat different from the classic “cigarette-paper” scars, which helps distinguish clEDS from classical EDS in combination with genetic findings.
Because classical-like EDS is recessive, parents are often unaffected carriers, and there may be no obvious history of EDS in previous generations. Genetic testing plays a key role in confirming this subtype.
Cardiac-Valvular EDS (cvEDS)
A rare subtype that affects the connective tissues of the cardiovascular system, in addition to the skin and joints. It is commonly associated with variants in type I collagen and is usually inherited in an autosomal recessive pattern. Distinguishing features often include:
Progressive heart valve disease, especially involving the aortic and mitral valves. Valves may become weakened and leaky, which can cause heart murmurs, shortness of breath, fatigue, palpitations, or swelling in the legs if heart function is affected.
A need for regular cardiology follow-up with echocardiograms to monitor valve function and heart size. In some cases, valve repair or replacement surgery may be required.
Stretchy, fragile skin that bruises easily and may show widened or atrophic scars.
Generalized joint hypermobility and joint laxity, which can lead to sprains, dislocations, and chronic pain.
Additional skeletal and facial features in some individuals, such as a slender build, long fingers, or subtle connective tissue-related facial characteristics.
Because of the potential for progressive valve disease, early recognition and close coordination with cardiology are especially important in cardiac-valvular EDS.
Vascular EDS (vEDS)
Vascular EDS is one of the most serious subtypes because it heavily involves blood vessels and the connective tissue that supports vital organs. It is usually caused by variants in the gene that provides instructions for type III collagen and typically follows an autosomal dominant inheritance pattern. Characteristic features may include:
Fragile arteries that are more prone to spontaneous tears or ruptures, sometimes at a young age and often without significant prior symptoms. These events can cause internal bleeding, stroke, or organ damage and require emergency care.
Fragility of hollow organs such as the intestines and uterus, which can lead to uterine rupture during pregnancy or spontaneous bowel perforation. These complications are life-threatening and need immediate surgical attention.
Thin, translucent skin, especially on the chest and abdomen, where underlying veins may be visible.
Easy bruising that can be striking, with large bruises after minor trauma or even without a clear injury.
Characteristic facial features in many individuals, such as a thin nose, prominent eyes, a small chin, and a lean face, although these traits can vary.
Joint hypermobility that is often modest in the large joints but may be more prominent in smaller joints like the fingers and toes.
A strong emphasis on careful blood pressure control, avoidance of high-impact trauma, and planned management of any invasive procedures or surgeries because of the risk of vessel or organ injury.
Because vascular EDS carries a significant risk for serious complications, early diagnosis, genetic counseling, and coordinated care with specialists in genetics, cardiology, vascular medicine, and high-risk obstetrics are especially important.
Prevalence
What are the most common symptoms of this disease?
Across all Ehlers-Danlos syndrome types combined, a commonly cited global floor is at least 1 in 5,000 people. Using a current world population of around 8.3 billion, that prevalence implies roughly 1.6 million people worldwide living with an EDS diagnosis or an EDS phenotype captured by that estimate. Even that headline number comes with a major asterisk, because the oft-repeated 1 in 5,000 figure has been used for decades, and its original evidentiary basis is not always clearly traceable in older literature, which matters as prevalence evolves alongside diagnostic criteria and awareness.
What looks “rare” at the umbrella level also masks significant variation across subtypes. MedlinePlus Genetics notes hypermobile and classical EDS as the most common, with hypermobile EDS estimated at around 1 in 5,000 to 1 in 20,000 and classical EDS at around 1 in 20,000 to 1 in 40,000. Scaled globally, those ranges translate to roughly 0.4 to 1.7 million people for hypermobile EDS and roughly 0.2 to 0.4 million for classical EDS, while vascular EDS is typically placed in the 1 in 100,000 to 1 in 200,000 range, which implies roughly 40,000 to 80,000 people worldwide.
Prevalence expands again when hypermobile EDS is considered alongside hypermobility spectrum disorders, a combined category that a 2023 clinical review summarizes at roughly 1 in 600 to 1 in 900. Applied globally, that suggests on the order of 9 to 14 million people could fall under the broader hypermobility-related umbrella, with the same review noting that current figures are likely underestimates in part because diagnosis is frequently delayed.
Symptoms
What are the most common symptoms of this disease?
Ehlers-Danlos syndrome does not fit neatly into the usual framework of blood-clotting disorders, but it has clinically important and often misunderstood connections to thrombosis risk that matter greatly for high-risk patients and clinicians.
EDS is primarily a disorder of connective tissue and collagen, not a primary coagulation defect. Most EDS subtypes are associated with vascular fragility, easy bruising, and bleeding tendencies rather than spontaneous clot formation. However, this does not mean patients are protected from thrombosis. Several mechanisms can increase clot risk indirectly, especially in hypermobile EDS and related hypermobility spectrum disorders. Chronic joint instability, pain, and fatigue frequently lead to reduced mobility, prolonged sedentary behavior, and periods of immobilization after injuries or surgeries, all of which are well-established risk factors for venous thromboembolism. Autonomic dysfunction, particularly postural orthostatic tachycardia syndrome, which is common in EDS populations, can contribute to venous pooling and impaired venous return, further increasing thrombotic risk in susceptible individuals.
Vascular EDS requires special consideration. While it is not associated with hypercoagulability, arterial fragility dramatically raises the stakes of any thrombotic or anticoagulation decision. Arterial dissections, aneurysms, and spontaneous ruptures are central risks in this subtype, meaning that standard anticoagulation or antiplatelet therapy can be dangerous if prescribed without careful risk assessment. For these patients, clot-prevention strategies must balance the risk of thrombosis with a significantly elevated risk of catastrophic bleeding.
Critically, EDS does not exclude the presence of independent clotting disorders. Patients with EDS can also carry inherited or acquired thrombophilias such as Factor V Leiden, prothrombin gene mutations, antiphospholipid syndrome, or estrogen-related hypercoagulability. In these cases, clinicians may underestimate clot risk by assuming bleeding tendencies dominate the picture. Conversely, some patients report delayed diagnosis or undertreatment of thrombosis because EDS is incorrectly assumed to be protective against clotting.
Individuals with EDS who are at higher risk for thrombotic events need to know that reduced mobility, repeated surgeries, central venous access, hormonal therapy, pregnancy, and long periods of travel can meaningfully increase clot risk despite a connective tissue diagnosis. A personal or family history of blood clots should prompt formal thrombophilia evaluation. Compression strategies, hydration, mobility planning, and individualized perioperative clot-prevention protocols are often safer and more effective than blanket anticoagulation approaches. Most importantly, anticoagulant decisions should be made by clinicians familiar with both connective tissue disorders and thrombosis, as standard algorithms may not apply.
Symptoms
What are the most common symptoms of this disease?
Ehlers-Danlos syndrome can affect many parts of the body at the same time. Symptoms vary from person to person and depend on the subtype, the tissues most involved, and the severity of the collagen changes. Some people have mostly joint symptoms, while others notice skin problems, frequent injuries, digestive issues, or problems related to blood vessels and the autonomic nervous system. Symptoms may begin in childhood or adolescence and often change over time.
Common features across many EDS types include fragile connective tissues, joint instability, and slower healing. This combination can lead to ongoing pain, fatigue, and a higher risk of injuries from everyday activities that would not usually cause problems.
Frequent symptoms and symptom groups include:
Bruising and Skin Fragility: You may bruise easily, even from minor bumps or injuries, and bruises may be larger or more frequent than expected. Your skin may tear with relatively little force, especially over bony areas like the shins, elbows, and knees. Wounds can reopen or stretch after they initially heal, and the edges of cuts may separate more than usual. Some people notice that adhesive bandages or medical tape cause skin damage, and they may need special techniques or products to protect fragile skin.
Skin Texture, Stretchiness, and Scarring: Your skin may feel soft, silky, or doughy and may stretch further than usual before snapping back. It can be especially stretchy over the neck, elbows, and knees. Small cuts and scrapes can take longer to heal, and scars may be thin, wide, or more noticeable than expected for the size of the injury. Some people develop many scars from everyday injuries, joint dislocations, or surgical procedures that would usually leave only faint marks. Stretch marks can appear in areas that have not undergone significant weight gain or pregnancy, reflecting underlying connective tissue weakness.
Joint Hypermobility and Instability: Joints may bend farther than usual, feel loose, or feel like they slip out of place during normal movements. You may notice clicking, popping, or a sensation that joints do not line up correctly. Some people have frequent sprains, subluxations (partial dislocations), or complete dislocations, sometimes after very minor movements such as turning in bed, lifting a light object, or stepping off a curb. Instability can affect large joints, such as shoulders, knees, and hips, as well as smaller joints, such as fingers and toes, making gripping, walking, and overhead activities difficult.
Joint Pain And Early Wear-And-Tear: You may feel aching, sharp, or burning pain in one or many joints. Pain can be constant or can flare with activity, weather changes, hormonal shifts, or after a dislocation or sprain. Morning stiffness or stiffness after sitting for a long time is common. Over time, unstable joints can develop early osteoarthritis or chronic degenerative changes that increase pain and limit the range of motion. This can affect work, school, sports, and basic daily tasks such as carrying groceries or climbing stairs.
Muscle Pain and Fatigue: Muscles often work harder to stabilize loose joints, which can cause muscle pain, tightness, cramps, or a dull ache. Many people describe a heavy, tired feeling in their limbs, especially after standing, walking, or maintaining one position for too long. Muscle spasms can occur around frequently injured joints. Some individuals develop patterns of overuse in which stronger muscle groups compensate for weaker or more painful areas, leading to secondary pain in the neck, shoulders, or back.
General Fatigue and Low Energy: Persistent tiredness is very common in EDS. You may feel worn out by routine activities, need longer recovery time after exertion, or feel unrefreshed after a full night of sleep. Fatigue often interacts with pain, poor sleep quality, autonomic symptoms, and mental health. People sometimes notice “post-exertional” fatigue, where symptoms worsen hours or a day after activity. This can make pacing, planning rest periods, and adjusting daily routines important parts of symptom management.
Digestive and Pelvic Symptoms: Digestive issues are frequent and can include constipation, diarrhea, abdominal pain, bloating, nausea, reflux, and symptoms similar to irritable bowel syndrome. Food sensitivities, early fullness, or swallowing difficulties can occur in some people. Weakness in the pelvic floor and surrounding tissues can contribute to incontinence of urine or stool, difficulty fully emptying the bladder, pelvic pressure, or pelvic organ prolapse, especially after pregnancy or pelvic surgery. Hemorrhoids, rectal prolapse, and chronic pelvic pain can also appear when supporting tissues are less resilient.
Hernias and Organ Support Problems: Fragile connective tissues can increase the risk of hernias in the abdominal wall, groin, or around previous surgical incisions. These hernias may appear at younger ages than usual or recur after repair. Some people also experience problems with organ positioning or support, such as prolapse of the uterus, bladder, or rectum, especially after childbirth. These issues can cause discomfort, pressure, changes in bowel or bladder habits, and may require specialized pelvic floor or surgical care.
Autonomic and Circulatory Symptoms: Many people with EDS experience symptoms related to the autonomic nervous system, which controls heart rate, blood pressure, temperature regulation, and digestion. These can include dizziness or lightheadedness when standing, feeling faint, rapid heartbeat, temperature intolerance, and fluctuations in blood pressure. Some are diagnosed with conditions such as postural orthostatic tachycardia syndrome or neurocardiogenic syncope. These symptoms can make standing in lines, taking hot showers, or exercising very challenging and may interact with fatigue and cognitive difficulties.
Headaches and Neurologic Symptoms: Chronic headaches and migraines are common and may be accompanied by neck pain or sensitivity to light and sound. Some people report episodes of numbness, tingling, or burning sensations in their arms or legs. These symptoms may relate to joint instability in the spine, muscle tension, nerve compression, or changes in blood flow. In a subset of individuals, structural issues such as cervical spine instability or Chiari malformation can contribute to headaches, dizziness, or neurologic symptoms and may require targeted evaluation.
Cognitive Symptoms (“Brain Fog”): Trouble concentrating, short-term memory lapses, slowed thinking, or difficulty focusing on tasks for as long as needed are common complaints. People may lose track of conversations, misplace items, or find it harder to multitask than before. Pain, poor sleep, autonomic symptoms, fatigue, and certain medications can all contribute to this sense of “brain fog.” These cognitive changes can affect school performance, work productivity, and daily organization.
Bleeding and Dental Concerns: Easy bruising, frequent nosebleeds, or bleeding gums can be present in some types of EDS due to fragile blood vessels and connective tissues. Dental crowding, a high-arched palate, and fragile gums may also occur and can contribute to tooth misalignment, difficulty with dental procedures, and a higher risk of gum irritation or bleeding. Some individuals need gentle dental techniques, additional time for dental work, or more frequent follow-up for gum health.
Eye and Vision Issues: In some subtypes, the tissues that support the eyes are fragile. This can increase the risk of nearsightedness, dry eyes, or light sensitivity. In rare eye-focused subtypes of EDS, there may be corneal thinning, corneal fragility, or an increased risk of retinal problems. These issues can lead to fluctuating vision, discomfort, or more serious complications that require prompt evaluation by an eye specialist.
Emotional and Quality-Of-Life Effects: Living with chronic pain, fatigue, and unpredictable symptoms can lead to frustration, anxiety, or low mood. Many people with EDS describe feeling misunderstood or dismissed before receiving a diagnosis, which can affect trust in healthcare and overall emotional well-being. Limits on work, school, sports, and social activities may lead to isolation or grief over lost abilities. Psychological support, peer groups, and education about EDS can be important parts of care, helping people adapt while maintaining meaningful activities and relationships.
Causes
What are the most common causes of this disease?
Ehlers-Danlos syndrome is a genetic condition that affects how your body builds and maintains connective tissue. It belongs to a group of heritable connective tissue disorders, meaning that changes in specific genes are passed through families or develop early in life and affect connective tissues throughout the body.
In most EDS subtypes, those genetic variants alter the structure, production, or processing of collagen or related proteins. Collagen is one of the main building blocks of connective tissue and provides strength, elasticity, and support for skin, ligaments, bones, blood vessel walls, and many internal organs. When collagen or related proteins are abnormal or produced in smaller amounts, connective tissues become weaker, stretchier, or more fragile than usual.
Key points about the causes of EDS include:
Genetic Variants in Collagen and Related Proteins: Experts have identified variants in over 20 genes that can cause different types of EDS. Many of these genes provide instructions for collagen types I, III, or V, or for proteins that help collagen fold correctly, cross-link, or organize in the spaces around cells. Changes in these genes disrupt normal collagen function, leading to the specific pattern of symptoms seen in each subtype.
Subtype-Specific Genetic Changes: Each EDS subtype is associated with specific genes or gene groups. For example, classical EDS is often associated with variants in collagen type V genes, whereas vascular EDS is usually caused by variants in the gene encoding collagen type III. These gene-specific differences explain why some types primarily affect skin and joints, while others mainly affect blood vessels or internal organs.
Hypermobile EDS and Unidentified Genetic Causes: For 12 of the 13 recognized EDS subtypes, a specific genetic cause has been identified. Hypermobile EDS (hEDS) is the main exception. It clearly runs in families and behaves like a heritable connective tissue disorder, but researchers have not yet found a single consistent gene variant that explains most cases. Current evidence suggests that hEDS may involve a combination of genetic factors, and research is ongoing.
Inheritance Patterns: Many EDS types are inherited in an autosomal dominant pattern, which means a person can develop the condition if they inherit one altered copy of the relevant gene from either parent. Some types follow an autosomal recessive pattern, which means both copies of the gene must be altered for the person to show symptoms. In addition, some people develop EDS because of a new (de novo) genetic change that appears for the first time in them and was not present in either parent.
Family History and Risk: Having a close biological relative with a known EDS subtype increases the likelihood of having the same condition, especially in autosomal-dominant forms. However, the exact symptoms and severity can differ even between family members with the same subtype.
Overall, EDS arises when inherited or newly occurring genetic changes interfere with the normal structure and function of collagen and related connective tissue proteins. This underlying genetic cause is present from birth, even if symptoms do not become obvious until later in childhood, adolescence, or adulthood.
Risk Factors
What are the most common risk factors?
Ehlers-Danlos syndrome is a heritable connective tissue condition. Risk is shaped by the way each subtype is inherited, which gene is involved, and whether the genetic change is inherited from a family member or arises the novo in an individual. Environment and lifestyle do not cause EDS, although they can influence how noticeable symptoms become.
In many subtypes, EDS follows an autosomal dominant inheritance pattern. This means a person can develop the condition if they inherit one altered copy of a relevant gene from either biological parent. When a parent has an autosomal dominant form of EDS, each pregnancy carries a significant chance of passing that altered gene to a child, regardless of sex or birth order.
Some EDS subtypes are inherited in an autosomal recessive pattern. In these types, both copies of the gene need to be altered for a person to show symptoms. Parents may carry a single altered copy each and have no symptoms themselves. When both parents are carriers, there is a chance in each pregnancy that the child will inherit both altered copies and develop that EDS subtype.
In addition to inherited changes, some individuals develop EDS because of a new genetic change that appears for the first time in them. This is sometimes called a de novo variant. In these situations, there may be no prior family history or obvious pattern in earlier generations, but the affected person still carries the altered gene and can pass it to biological children.
Factors that influence risk include:
Family History of EDS or Related Conditions: Having a biological parent, sibling, or child with a confirmed EDS diagnosis increases the likelihood that you have or may develop the same subtype. This is especially true in autosomal dominant forms, where one affected parent can pass the altered gene to multiple children. A family history of arterial rupture, organ rupture, unexplained aneurysms at a young age, or very severe joint hypermobility in several relatives can also signal an underlying EDS subtype or related connective tissue disorder.
Known Genetic Variant Within Family: If a specific gene change causing EDS has been identified in the family, relatives who carry the same variant have an increased risk of having that subtype or of passing it to their children. Genetic testing can sometimes distinguish relatives who carry the variant from those who do not. In dominant forms, a person who inherits the variant usually has some features of the condition, although the severity can differ. In recessive forms, people who carry one altered copy typically have no symptoms but can still pass that copy to their children.
Patterns of Joint Hypermobility and Skin Findings in Relatives: Clusters of family members with very flexible joints, frequent sprains or dislocations, fragile or velvety skin, unusual scars, or early onset hernias suggest a heritable connective tissue disorder. A pattern that spans several generations, affects all sexes, and begins in childhood or adolescence is especially important to recognize. Even if no one in the family has a formal diagnosis, these visible traits often provide the first clue that EDS or a related condition may be present.
De Novo Genetic Changes: Even when no one else in the family has EDS, a new genetic change can arise in a person and cause the condition. This may be suspected when an individual shows clear features of a specific EDS subtype, particularly a severe or vascular form, but parents and siblings do not. Once present, that new variant behaves like any other inherited variant. The affected individual can pass the altered gene to future children with the same inheritance pattern as others with that subtype.
Carrier Status and Population Background: For recessive subtypes, the chance that two carriers will have a child together can be higher in certain situations, such as when partners share a close biological relationship or come from a population where a particular variant is more common. Most carriers never develop symptoms themselves, which can make these risks difficult to recognize without genetic testing.
If you have EDS or if a close biological relative has been diagnosed, it is important to talk with a healthcare provider about your family’s risk. Your provider may recommend referral to a genetic counselor. Genetic counseling can help you understand inheritance patterns, options for genetic testing, the chances of passing EDS to future children, and whether other family members may benefit from evaluation, screening, or genetic testing of their own.
Complications
What are the most common complications?
Complications of Ehlers-Danlos syndrome arise when fragile connective tissues are stressed by everyday activities, injuries, medical procedures, or pregnancy. The type and severity of complications depend on the EDS subtype, the specific genes involved, and which tissues are most affected. Some people experience mainly joint and musculoskeletal complications, while others face serious vascular, organ, or heart issues that require close monitoring and rapid treatment when problems appear.
Joint dislocations and subluxations are among the most common complications. A joint can partially or completely slip out of place during routine movements, such as reaching overhead, rolling over in bed, dressing, or stepping off a curb. These events can stretch or tear ligaments, damage cartilage, and irritate nearby nerves. Never attempt to force a joint back into place on your own. If you suspect a dislocation, seek urgent medical care or go to the emergency department so trained professionals can treat the injury safely and reduce the risk of nerve, blood vessel, or long-term joint damage.
Some EDS subtypes, especially vascular EDS, can cause serious and sometimes life-threatening complications. Fragile blood vessels can tear suddenly, with little warning. This can lead to internal bleeding in the chest or abdomen, artery rupture or dissection, stroke, or organ damage, including bowel perforation or uterine rupture in pregnancy. Sudden severe pain, especially in the chest, abdomen, or head, new weakness or numbness, trouble speaking, or any symptoms of stroke require emergency evaluation.
Other possible complications include:
Recurrent Joint Injuries and Early Arthritis: Frequent sprains, subluxations, and dislocations can damage cartilage, ligaments, and tendons over time. This damage increases the risk of early osteoarthritis in weight-bearing joints such as the hips, knees, and ankles, and in frequently used joints such as the shoulders and hands. People may develop persistent swelling, stiffness, and grinding sensations and may need walking aids, orthotics, or activity modifications earlier in life than usual. Repeated injuries can also weaken confidence in movement and contribute to muscle deconditioning if activities are avoided because of fear of pain or dislocation.
Spinal Curvature and Skeletal Changes: Scoliosis, kyphosis, and other spinal curves are more common in people with EDS, especially when the ligaments around the spine are lax. Legs or arms may appear bowed or curved, and flat feet are frequent because ligaments that support the arches are weaker. In some individuals, instability in the neck or upper spine can lead to neck pain, headaches, and neurologic symptoms. These skeletal changes can cause back pain, uneven posture, difficulty sitting or standing for long periods, and limitations in physical activities that involve lifting, twisting, or impact.
Heart Valve and Structural Heart Problems: In some subtypes, heart valves can become weakened and leaky, particularly the mitral and aortic valves. Valve leakage can cause heart murmurs, shortness of breath with exertion, chest discomfort, palpitations, fatigue, or swelling in the legs. The root of the aorta, the main artery leaving the heart, can also enlarge in certain subtypes, which increases the risk of serious complications if not monitored. Regular heart evaluations and echocardiograms may be needed to track valve function, heart size, and aortic measurements so that medication or surgery can be considered at the right time.
Fragile Eyes and Vision Issues: Thin or fragile corneas, nearsightedness, and a higher risk of eye injuries or certain eye conditions can occur in specific EDS subtypes. Some individuals may be prone to corneal thinning or bulging, recurrent corneal erosions, or retinal tears and detachments, especially when tissues inside the eye and in the eye wall are affected. Dry eyes, light sensitivity, or frequent eye discomfort can also appear. These issues may require regular eye examinations, protective eyewear during sports or work, and prompt care for any new flashes of light, floaters, or sudden changes in vision.
Dental and Gum Problems: Fragile gums, crowded teeth, and a high-arched palate are common features of several EDS subtypes. Connective tissue weakness in the gums can lead to easy bleeding, gum recession, or difficulty healing after dental procedures. Crowded teeth and a narrow palate can complicate orthodontic treatment and may increase the risk of relapse after braces. Some individuals develop temporomandibular joint problems in the jaw, which can cause jaw pain, clicking, or difficulty chewing. Gentle dental techniques, careful planning of orthodontic work, and regular monitoring by a dentist familiar with EDS are often helpful.
Hernias and Organ Support Problems: Weakness in the abdominal wall and pelvic floor can lead to several types of hernias, including inguinal hernias in the groin, umbilical hernias near the navel, and incisional hernias at sites of previous surgery. Pelvic organs such as the uterus, bladder, or rectum may descend or prolapse when supportive tissues are lax, leading to pressure, bulging, or difficulty with bowel and bladder function. These conditions may require surgical or non-surgical treatment, such as pelvic floor therapy or supportive devices, and may recur more easily due to the underlying tissue fragility.
Chronic Pain and Fatigue: Persistent pain in joints, muscles, and the spine, frequent headaches, and physical exhaustion are common long-term complications. Pain may shift from one area to another and can flare after minor injuries, changes in weather, stress, or increased activity. Over time, the nervous system can become more sensitive to pain signals, amplifying discomfort even when the imaging appears mild. Fatigue can be profound and may limit work, school, exercise, and social activities. Chronic pain and fatigue often interact with sleep problems and mood changes, which can create a cycle that is difficult to break without coordinated treatment.
Autonomic Nervous System Problems: Some individuals develop problems with blood pressure and heart rate regulation, such as postural orthostatic tachycardia syndrome or neurocardiogenic syncope. These conditions can cause dizziness, lightheadedness, fainting or near-fainting when standing, rapid heartbeat, exercise intolerance, nausea, and temperature sensitivity. People may have trouble standing in lines, taking hot showers, or performing tasks that require prolonged upright posture. These symptoms can increase the risk of falls and injuries and often require a combination of lifestyle changes, medications, and physical conditioning strategies.
Pregnancy and Childbirth Risks: During pregnancy, increased strain on fragile tissues can lead to worsening joint instability, pelvic girdle pain, hernias, and pelvic floor problems. In certain subtypes, especially vascular EDS and some cardiac or classical forms, there is a higher risk of serious complications such as arterial rupture, uterine rupture, significant bleeding, or organ tears during late pregnancy or delivery. Wound healing after cesarean section or vaginal tears can be slower or more complicated. Close monitoring, a tailored birth plan, and a team familiar with EDS, including obstetrics, anesthesia, cardiology, and genetics when needed, are important for pregnant individuals with EDS.
Surgical and Procedural Challenges: Fragile tissues may tear easily during surgery, and wounds may heal slowly or stretch over time, leaving widened or atrophic scars. Sutures may need to remain in place longer, and surgeons often adapt their techniques by using additional layers of closure, gentle tissue handling, and careful positioning to protect joints. Vascular fragility can increase the risk of bleeding during and after procedures, and fragile skin can complicate the use of adhesive dressings or tape. Anesthesiologists may need to take special care with airway management, neck positioning, and regional anesthesia because of joint laxity, cervical spine issues, and bleeding tendencies.
Early recognition of the EDS subtype and regular monitoring help reduce the risk of serious complications. A coordinated care team that understands the specific risks associated with each subtype can adjust activity recommendations, plan safe medical and surgical procedures, and address problems promptly when they appear.
Diagnosis and Testing
How is this disease diagnosed?
Diagnosing Ehlers-Danlos syndrome involves combining a detailed clinical evaluation with, in many cases, genetic testing and targeted investigations. Because many EDS symptoms overlap with other joint, skin, pain, and vascular conditions, diagnosis often takes time and may involve several specialists working together, such as genetics, rheumatology, cardiology, neurology, ophthalmology, and gastroenterology.
A healthcare provider will usually begin with a thorough medical history. They will ask about:
Symptoms of dizziness, fainting, palpitations, or temperature intolerance that suggest autonomic involvement.
Skin changes, including softness, stretchiness, unusual scars, slow wound healing, or frequent bruising.
Onset and progression of symptoms, including whether problems began in childhood, adolescence, or adulthood, and what makes them better or worse.
Digestive issues such as constipation, diarrhea, bloating, abdominal pain, or reflux.
Joint pain, sprains, subluxations, or full dislocations, and how often they occur.
Headaches, migraines, numbness, tingling, or other neurologic complaints.
Prior diagnoses, surgeries, or injuries, and how well you healed afterward.
Any history of hernias, pelvic organ prolapse, or organ rupture.
A physical examination usually includes several focused components.
Joint Assessment: The provider will check how far your joints move and whether they are unusually flexible, unstable, or painful. This often includes:
A standardized joint hypermobility assessment, such as the Beighton score, which evaluates specific movements in the fingers, thumbs, elbows, knees, and spine.
Observation for joint “clicking,” grinding, or visible subluxations during movement.
Assessment of muscle strength and gait to see how your body compensates for joint laxity.
Identification of joints that are particularly unstable or prone to dislocation and documentation of their range of motion.
Skin and Scar Examination: The provider will examine:
Skin texture, looking for a soft, silky, or “velvety” feel.
Skin stretchiness (hyperextensibility) is often assessed by gently lifting the skin on the forearm, neck, or elbows.
The thickness and fragility of the skin, including areas where minor trauma has led to tears.
Scars, noting whether they are wide, thin, “cigarette-paper” like, or more prominent than expected.
Stretch marks or striae appear in places not typically associated with major weight change or pregnancy.
Areas of frequent bruising and how bruises appear and resolve over time.
Skeletal and Posture Evaluation: The provider will review:
Spinal curvature, including scoliosis or kyphosis.
Foot shape, such as flat feet or very high arches, and alignment of ankles, knees, and hips.
Leg length, limb alignment, and any bowing or angular deformities.
Chest and ribcage shape, including pectus excavatum or carinatum.
Overall posture and movement patterns, including how you stand, walk, and transition from sitting to standing.
Cardiovascular and Other System Checks: Depending on your symptoms and suspected subtype, your provider may:
Listen for murmurs that could suggest valve problems.
Measure blood pressure and heart rate lying down, sitting, and standing to look for orthostatic changes.
Check pulses and look for signs of vascular fragility, such as prominent veins or unusual bruising.
Examine the abdomen for hernias, organ enlargement, or tenderness.
Perform a basic neurologic exam to assess strength, reflexes, sensation, balance, and coordination.
Family History: Family history is a key part of the diagnostic process. Your provider will usually ask about at least three generations of relatives, focusing on:
Very flexible joints, frequent sprains or dislocations, or need for early joint surgery.
Unusual scars, fragile skin, frequent bruising, or poor wound healing.
Aneurysms, arterial dissections, early strokes, or sudden unexplained deaths.
Organ rupture, severe pregnancy complications, or uterine rupture.
Known diagnoses of EDS or related connective tissue conditions such as Marfan syndrome, Loeys-Dietz syndrome, or osteogenesis imperfecta.
Additional tests may include:
Genetic Testing: When a specific EDS subtype is suspected based on symptoms and examination, genetic testing can:
Look for variants in genes known to cause many EDS subtypes, such as those affecting types I, III, or V collagen and related proteins.
Be performed as single-gene testing, multigene panels for connective tissue disorders, or broader sequencing in complex cases.
Confirm the diagnosis in the rarest, non-hypermobile EDS types and distinguish EDS from other heritable connective tissue disorders.
Help clarify inheritance patterns and guide family testing and counseling.
For hypermobile EDS (hEDS), a specific genetic test is not yet available in routine clinical practice. In this subtype, diagnosis is based on clinical criteria after excluding other genetic conditions.
Heart and Blood Vessel Imaging: To evaluate cardiovascular involvement and screen for complications, tests may include:
Echocardiograms to assess heart valve structure and function, look for valve leakage, and measure the size of the aorta and other major vessels.
CT angiography or MR angiography in individuals with suspected vascular EDS or concerning symptoms, to visualize arteries throughout the body and detect aneurysms, dissections, or other abnormalities.
Ultrasound of specific arteries is performed if localized problems are suspected.
Regular repeat imaging in certain subtypes to monitor known vascular or aortic changes over time.
Eye Examinations: An eye specialist may:
Perform a slit-lamp exam to evaluate the corneas for thinning, scarring, or other signs of fragility.
Assess the lenses and retina for changes linked to connective tissue weakness, including retinal tears or detachments in higher-risk subtypes.
Measure intraocular pressure and check for other eye conditions that may be more common in EDS.
Recommend protective strategies or follow-up schedules tailored to your specific subtype and findings.
Other Supportive Tests: Depending on your symptoms and suspected subtype, your care team may also use:
X-rays, ultrasound, CT, or MRI of joints and the spine to document structural changes, instability, or degenerative changes, and to rule out other causes of pain.
Bone density tests (DEXA scans) to assess for low bone density or osteoporosis, particularly if there are frequent fractures or risk factors.
Autonomic function tests, such as tilt-table testing, to evaluate dizziness, fainting, and changes in heart rate or blood pressure.
Gastrointestinal studies, such as endoscopy, motility testing, or imaging, to investigate severe or persistent digestive symptoms.
Pelvic floor and urologic assessments to evaluate incontinence, prolapse, or bladder emptying issues.
Laboratory tests to rule out other conditions that can mimic or overlap with EDS, such as inflammatory arthritis, clotting disorders, or certain endocrine diseases.
Because no single test can identify all EDS cases, diagnosis usually depends on combining clinical criteria with selected investigations. When needed, referral to a genetics clinic, rheumatologist, cardiologist, neurologist, ophthalmologist, or other specialist can help clarify the diagnosis, determine the specific subtype, and guide long-term monitoring and care.
Management And Treatment
What treatments are available for this disease?
There is no cure that corrects the underlying genetic changes in Ehlers-Danlos syndrome. Treatment focuses on managing symptoms, protecting fragile tissues, and reducing the risk of complications. Care is usually most effective when it is coordinated by a team that may include primary care providers, specialists, physical and occupational therapists, and mental health professionals.
Common approaches include:
Physical Therapy and Targeted Exercise: Structured exercise programs help strengthen the muscles that support joints, improve posture, and promote joint stability. Therapists usually emphasize low-impact, controlled movements that build strength without overstressing joints.
Bracing and Supportive Devices: Braces, splints, orthotics, and compression garments may provide extra stability to specific joints, reduce pain, and prevent frequent sprains or dislocations. These devices are often custom-fitted and used for particular activities.
Pain Management Strategies: Treatment plans may combine medications and physical therapy. The goal is to reduce pain to a manageable level while minimizing side effects and maintaining function.
Skin and Wound Care: Daily use of gentle soaps, moisturizers, and sun protection helps reduce the risk of skin injury. Wounds may require careful closure, additional reinforcement, and longer follow-up to ensure proper healing and reduced scarring.
Management of Autonomic and Digestive Symptoms: For individuals with dizziness, fainting, or heart rate changes, treatments may include increased fluid and salt intake when appropriate, compression garments, tailored medications, and specific exercise programs. Digestive symptoms may be managed with dietary adjustments, medications, pelvic floor therapy, and support from gastroenterology or pelvic health specialists.
Dental and Eye Care: Regular dental visits help monitor gum health and tooth alignment. Eye examinations detect early changes in the cornea or retina, especially in subtypes with higher ocular risk.
Heart and Vascular Monitoring: In subtypes that affect blood vessels or heart valves, scheduled imaging and cardiology follow-up are important. Some individuals may need medications to lower blood pressure or reduce stress on the blood vessel walls.
Surgical Planning and Precautions: When surgery is necessary, surgeons and anesthesiologists plan procedures with tissue fragility in mind. They may use specific suturing techniques, adjust positioning to protect joints, and anticipate longer healing times.
Psychological and Social Support: Living with a chronic condition can be emotionally challenging. Counseling, support groups, and accommodations at work or school can help people with EDS manage stress, advocate for their needs, and maintain participation in daily life.
Your healthcare team will tailor treatment to your specific symptoms, subtype, age, and life circumstances. The plan often changes over time as new symptoms appear or as your goals and activities evolve.
Patient-Provider Communication
What questions should you ask your doctor about your diagnosis and care plan?
You should contact a healthcare provider if you notice changes that suggest your connective tissues are weaker or more fragile than expected. This includes new or worsening joint pain, frequent sprains or dislocations, unexplained bruising, wounds that heal poorly, or skin that seems unusually stretchy or delicate.
Other reasons to schedule a visit include:
Family History Concerns: If a close biological relative has EDS or a related connective tissue disorder, or if you notice similar symptoms in yourself or your children, an evaluation is appropriate.
New or Worsening Symptoms: If pain, fatigue, digestive problems, fainting, or other symptoms interfere with daily activities, work, or school, your provider can reassess your condition and adjust your treatment plan.
Pregnancy Planning or Pregnancy: If you have EDS and are planning a pregnancy, or if you become pregnant, early consultation with your care team helps plan monitoring and delivery. New or severe symptoms in pregnancy should be reported promptly.
Postoperative or Injury Concerns: If wounds reopen, scars stretch, or recovery from injuries or surgery is slower than expected, your provider should reassess healing and adjust care.
Your provider will recommend how often you should attend follow-up visits based on your subtype, current symptoms, and any complications. Regular follow-up allows your care team to track changes, monitor for new problems, and update your treatment plan so that it continues to match your needs.
If you ever experience sudden severe pain, signs of a stroke, difficulty breathing, or other emergency symptoms, seek urgent medical care immediately.
The IWBCA provides the information and materials on this site for educational and informational purposes only. The content is not a substitute for professional medical evaluation, diagnosis, or treatment. Always consult your physician or another qualified healthcare provider regarding any questions you may have about a medical condition, diagnosis, or course of treatment. Do not disregard, delay, or alter medical advice based on information obtained from this site. If you believe you are experiencing a medical emergency, call 911 or your local emergency services immediately.
Comments