Ehlers-Danlos syndrome is a group of genetic conditions that affect the body’s connective tissues, making skin fragile and joints unusually flexible. For those living with this condition, everyday activities can bring unexpected challenges, from wounds that don’t heal well to joints that dislocate easily. Understanding this complex disorder is the first step toward managing its many symptoms and living a fuller life.
What Is Ehlers-Danlos Syndrome?
Ehlers-Danlos syndrome, often shortened to EDS, represents a group of inherited disorders that affect the body’s connective tissues – the materials that provide strength and structure to skin, joints, blood vessel walls, and internal organs. Connective tissues are made up of proteins called collagen and elastin that work together like scaffolding throughout the body. When someone has EDS, their body produces collagen that is weaker than it should be, or produces it in abnormal amounts.[1][4]
Because connective tissue exists everywhere in the body, EDS can affect many different systems and organs. This includes the skin, joints, muscles, bones, blood vessels, and even internal organs like the heart, digestive system, and blood vessels. The condition varies greatly from person to person – some individuals experience relatively mild symptoms, while others face severe, life-altering complications.[3]
Healthcare providers currently recognize 13 different types of Ehlers-Danlos syndrome, each with its own set of features and genetic causes. The classification system was updated as recently as 2017 to include newly identified rare forms of the condition. Each type is named based on which parts of the body it affects most and what symptoms are most prominent.[2][7]
The Different Types of EDS
The most common form is hypermobile EDS, which accounts for the vast majority of cases. People with this type experience loose, overly flexible joints that can move far beyond the normal range of motion. These joints may dislocate or partially dislocate easily, causing chronic pain and instability. This type also often brings extreme tiredness, digestive problems like heartburn and constipation, dizziness when standing up, and skin that bruises easily. Currently, there is no genetic test available to confirm hypermobile EDS, so doctors diagnose it based on medical history and physical examination.[3][9]
Classical EDS is less common and tends to affect the skin more dramatically. In addition to hypermobile joints, people with this type have skin that stretches much more than normal and is fragile enough to split easily, especially over bony areas like the forehead, knees, and elbows. The skin has a smooth, velvety texture and bruises easily. Wounds heal slowly and often leave wide scars. Some people with classical EDS may also develop hernias or experience organ prolapse.[3]
The rarest but most serious form is vascular EDS. This type affects the walls of blood vessels and internal organs, making them fragile and prone to tearing or rupturing. These ruptures can lead to life-threatening internal bleeding. People with vascular EDS often have thin, translucent skin where small blood vessels are visible, especially on the chest and legs. They may have distinctive facial features including a thin nose, large eyes, and small earlobes. Because of the risk of arterial dissection and organ rupture, vascular EDS requires careful monitoring and immediate medical attention for any concerning symptoms.[3][6]
Kyphoscoliotic EDS is another rare form that primarily affects the spine. Children with this type develop curvature of the spine that begins in early childhood and often worsens during teenage years. They also have weak muscle tone from birth, which may delay sitting and walking milestones. The eyes are fragile and can be damaged easily. Like other types, kyphoscoliotic EDS includes hypermobile joints and skin that is soft, stretchy, and bruises easily.[3]
The remaining nine types of EDS are quite rare, including arthrochalasia, classical-like, cardiac-valvular, dermatosparaxis, brittle cornea syndrome, spondylodysplastic, musculocontractural, myopathic, and periodontal EDS. Each has unique characteristics and genetic causes, though they share some common features with the more common types.[6][7]
How Common Is Ehlers-Danlos Syndrome?
Ehlers-Danlos syndrome affects approximately 1 in 5,000 people worldwide, though the exact numbers are difficult to pin down because the condition is often underdiagnosed or misdiagnosed. The hypermobile form may affect between 1 in 5,000 to 1 in 20,000 people, while the classical type probably occurs in about 1 in 20,000 to 1 in 40,000 people. The other forms are much rarer, with some types having only a few dozen cases or affected families described in medical literature.[4][7]
The condition affects people of all ages, genders, and ethnic backgrounds. There is no geographic area where EDS is more or less common. However, because EDS can be inherited, multiple family members across generations may be affected. If one biological parent has EDS, their child has approximately a 50% chance of inheriting the condition, though the severity of symptoms can vary greatly even within the same family.[4][14]
What Causes Ehlers-Danlos Syndrome?
Ehlers-Danlos syndrome is caused by changes in genes that provide instructions for making collagen or proteins that work with collagen. These genetic changes, called mutations, affect how the body produces and processes collagen. Researchers have identified more than 20 different genetic mutations that can cause various types of EDS. Each mutation affects collagen production differently, which explains why there are so many types of EDS with different symptoms.[4][7]
A genetic mutation is a change in the DNA sequence that happens during cell division when cells make copies of themselves. If part of the DNA sequence is incomplete, damaged, or in the wrong place, it can lead to symptoms of a genetic condition. In the case of EDS, these mutations disrupt the normal structure and function of collagen, making connective tissues throughout the body weaker and less supportive than they should be.[4]
Interestingly, even though scientists know that genetic mutations cause EDS, they cannot always identify the exact mutation in every patient. This is particularly true for hypermobile EDS, the most common type, where the responsible gene or genes have not yet been discovered. Research continues to search for these genetic markers, which would help improve diagnosis and understanding of the condition.[9]
Some types of EDS follow an autosomal dominant pattern of inheritance, meaning a person needs to inherit only one copy of the mutated gene from one parent to develop the condition. Other types follow an autosomal recessive pattern, where a person must inherit two copies of the mutated gene, one from each parent. However, up to 50% of patients can have a de novo mutation, which means the genetic change occurred randomly during early development and was not inherited from either parent.[5][7]
Who Is at Risk?
The primary risk factor for developing Ehlers-Danlos syndrome is having a biological family member with the condition. If one or both of your biological parents have EDS, you have a significantly increased risk of inheriting it. Similarly, if you have EDS, there is a possibility you could pass the genetic mutation to your biological children. The specific risk depends on which type of EDS runs in your family and how it is inherited.[4]
However, because new mutations can occur spontaneously, it is possible to be the first person in your family to have EDS. This means that even without a family history, the condition can still develop. This is why doctors consider EDS when patients present with characteristic symptoms, regardless of whether other family members have been diagnosed.[5]
Age, gender, and ethnicity do not increase or decrease risk for EDS itself, since it is a genetic condition present from birth. However, symptoms may not become apparent until childhood, adolescence, or even adulthood, depending on the type and severity. Some people may live their entire lives with mild symptoms that are never formally diagnosed as EDS.[8]
For those with vascular EDS, pregnancy presents significant risks. The physical stress of pregnancy can increase the chance of uterine rupture, particularly in late pregnancy. Women with this type of EDS who are considering starting a family should speak with a genetic counselor to understand the risks and discuss their options.[1]
Recognizing the Symptoms
The symptoms of Ehlers-Danlos syndrome vary depending on which type a person has, but certain features appear across most types. The most recognizable symptom is joint hypermobility – joints that are unusually flexible and can move far beyond the normal range of motion. This might sound like an advantage, but it actually causes significant problems. Because the connective tissue holding joints together is looser than it should be, joints become unstable. They may partially dislocate, called a subluxation, or fully dislocate frequently. This leads to chronic joint pain, clicking sounds when moving, and an increased risk of injuries like sprains.[1][4]
Skin problems are another hallmark of EDS. Many people with the condition have skin that is unusually soft and velvety to the touch. The skin may be very stretchy – you might be able to pull it away from your flesh several centimeters, only to have it snap back into place when released. However, this skin is also fragile. It tears or bruises much more easily than normal skin, and wounds often don’t heal well. Stitches may tear out because the skin isn’t strong enough to hold them. After healing, wounds may leave unusual scars that are wide, thin, or have a characteristic appearance described as “cigarette paper” scars.[1][7]
People with EDS commonly experience chronic fatigue – a persistent feeling of being tired that doesn’t improve much with rest. This exhaustion can make everyday activities feel overwhelming and may interfere with work, school, and social life. Difficulty concentrating often accompanies the fatigue, making it hard to focus on tasks or remember things.[4]
Digestive issues affect many people with EDS. These can include heartburn, constipation, bloating, and general gastrointestinal discomfort. Some people develop more serious complications like hernias or organ prolapse, where organs slip out of their normal position because the supporting tissues are too weak.[3][13]
Many individuals with EDS experience problems with their autonomic nervous system, the part of the nervous system that controls automatic body functions. This can cause dizziness and an increased heart rate when standing up, a condition called Postural Orthostatic Tachycardia Syndrome or POTS. People may feel lightheaded, experience heart palpitations, or even faint when moving from sitting or lying down to standing.[3][18]
Additional symptoms can include problems with bladder control, headaches, jaw pain from temporomandibular joint dysfunction, and dental issues. Some people develop problems with their eyes, heart valves, or other internal organs. The specific combination of symptoms depends on which type of EDS a person has and how severely their connective tissue is affected.[3][6]
How to Prevent Complications
While Ehlers-Danlos syndrome itself cannot be prevented because it is a genetic condition, there are many steps people with EDS can take to prevent complications and protect their health. These preventive measures focus on protecting vulnerable joints and skin, maintaining overall health, and avoiding situations that could lead to serious injuries.[9]
Protecting joints is crucial for people with EDS. This means avoiding activities that put excessive stress on joints or increase the risk of dislocation. Contact sports, heavy lifting, and repetitive movements that hyperextend joints should be avoided or approached with great caution. Instead, low-impact activities like swimming or water aerobics are often recommended because water supports the body and reduces stress on joints while still providing good exercise.[13][20]
Using supportive devices can help prevent joint injuries. Braces for knees, ankles, and other problem joints provide extra stability and support during daily activities. Ring splints can stabilize finger joints, and wrist braces help with hand and wrist instability. Some people benefit from using a neck collar to reduce neck pain and headaches. A physical therapist or occupational therapist can recommend the right types of supports for individual needs.[9][11]
Skin protection is equally important. Very young children with pronounced skin fragility can wear protective pads or bandages over vulnerable areas like the forehead, knees, and shins to prevent skin tears. Older children and adults who are active can wear protective padding during activities. When cuts or tears do occur, they should be cleaned and treated promptly. Instead of traditional stitches, wounds may be better closed with surgical glue or adhesive strips, which put less stress on fragile skin.[11]
Regular medical monitoring helps catch potential problems early. People with EDS should have regular heart checkups, including echocardiograms to check heart valve function and the condition of the aorta. Those with vascular EDS need particularly careful monitoring because of the risk of arterial rupture. Regular dental care is important, as some types of EDS affect the gums and teeth.[9][17]
Managing associated conditions can prevent further complications. Many people with EDS develop related conditions like POTS, which can be managed by increasing fluid and salt intake, wearing compression stockings, and following an exercise program designed for the condition. Managing inflammation through diet, adequate sleep, and appropriate medication can help reduce overall symptoms and improve quality of life.[18][20]
Wearing a medical alert bracelet that identifies you as having EDS can be lifesaving in an emergency. This ensures that emergency medical personnel understand your condition and can take appropriate precautions, such as being extra careful with stitches or being aware of the risk of arterial rupture in certain types of EDS.[15]
Understanding How EDS Affects the Body
To understand how Ehlers-Danlos syndrome affects the body, it helps to know what happens at the most basic level. Collagen is one of the most important proteins in the human body. It provides structure and strength to connective tissues, acting like the body’s natural scaffolding. There are many different types of collagen, each serving specific functions in different parts of the body. Some types provide structure to skin, others support blood vessel walls, and still others strengthen tendons and ligaments.[4]
In people with EDS, genetic mutations interfere with how collagen is made or how it functions. The collagen produced may be abnormally weak, structurally abnormal, or produced in insufficient amounts. This means that tissues throughout the body lack the strength and support they need to function properly. The specific type of collagen affected determines which body systems are most impacted and explains why different types of EDS have different symptoms.[5][7]
When joints are affected, the ligaments that normally hold bones together at joints become too loose and stretchy. This allows joints to move beyond their normal range, creating instability. Over time, this instability leads to wear and tear on the joint surfaces, increasing the risk of early-onset arthritis and degenerative joint disease. The constant small injuries to joint structures cause chronic pain and inflammation. Muscles around affected joints must work harder to compensate for the lack of ligament support, leading to muscle fatigue and pain.[8]
In the skin, weak collagen means the tissue lacks normal strength and elasticity. The skin becomes fragile and tears easily from minor trauma. When wounds occur, the healing process is impaired because the body cannot produce strong, healthy collagen to repair the damage. This results in wounds that heal slowly and form abnormal scars. The increased stretchiness of the skin is also due to abnormal collagen structure – the fibers don’t provide normal resistance when pulled.[7]
For people with vascular EDS, the walls of blood vessels are weakened because they lack normal collagen support. Blood vessels need strong walls to withstand the constant pressure of blood flowing through them. When these walls are weak, they can develop bulges called aneurysms, or they can tear, causing internal bleeding. The same weakness affects hollow organs like the intestines or uterus, which can also rupture. This is why vascular EDS is the most dangerous type of the syndrome.[7]
The autonomic nervous system problems seen in many people with EDS may result from connective tissue abnormalities affecting blood vessels and nerves. When a person stands up, blood normally pools slightly in the legs, and the body compensates by narrowing blood vessels and increasing heart rate slightly. In people with EDS, overly stretchy blood vessel walls may not constrict properly, causing more blood to pool in the legs and less to reach the brain, resulting in dizziness and rapid heart rate.[18]
Digestive problems likely stem from weak connective tissue in the walls of the digestive tract and the supporting structures that hold organs in place. This can slow digestion, affect how the intestines move food through the system, and allow organs to shift out of their normal positions. Weak muscle tone, common in some types of EDS, can also affect the muscles involved in digestion.[13]
The widespread nature of connective tissue in the body explains why EDS can affect so many different systems and produce such a wide variety of symptoms. Every part of the body that depends on strong, healthy connective tissue for support and structure can potentially be affected by this condition.
