Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome is a group of inherited disorders that affect the connective tissue throughout your body, causing symptoms like overly flexible joints, stretchy skin, and easy bruising that can significantly impact daily life.

Table of contents

• What is Ehlers-Danlos Syndrome?
• Types of Ehlers-Danlos Syndrome
• Common Signs and Symptoms
• Causes and Risk Factors
• How is EDS Diagnosed?
• Treatment and Management
• Living with Ehlers-Danlos Syndrome
• Potential Complications

What is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect your connective tissues, which are the tissues that provide support and structure throughout your body^[1]. Connective tissue is a complex mixture of proteins and other substances that give strength and elasticity to many parts of your body, including your skin, joints, blood vessel walls, tendons, ligaments, internal organs, and bones^[1][3].

The condition primarily affects how your body produces collagen, a protein that is essential for making connective tissue strong and supportive^[4]. People with EDS have weaker collagen, which means their connective tissue isn’t as strong or supportive as it should be^[4]. This weakness can affect virtually every organ system in your body, potentially causing significant health challenges^[5].

EDS is relatively rare. Experts estimate that it affects at least 1 in 5,000 people worldwide^[4][7]. However, because the condition can be difficult to diagnose and may go unrecognized, the actual number of affected individuals might be higher.

Types of Ehlers-Danlos Syndrome

Healthcare providers have identified 13 different types of Ehlers-Danlos syndrome^[2][7]. These types are classified based on which parts of the body are affected and what symptoms they cause^[4]. Each type has its own set of features with distinct characteristics.

Hypermobile EDS (hEDS) is by far the most common type, affecting as many as 1 in 5,000 to 20,000 people^[7]. People with this type primarily experience joint hypermobility affecting both large and small joints, which may lead to frequent joint dislocations and chronic pain^[6]. The genetic cause of hypermobile EDS has not yet been identified, making it the only type without a known gene mutation^[7][8].

Classical EDS (cEDS) is the second most common type^[7]. This type is characterized by extremely elastic and smooth skin that is fragile and bruises easily, along with joint hypermobility^[6][3]. People with classical EDS often develop wide, flat scars after injuries^[3].

Vascular EDS (vEDS) is considered the most serious type of the syndrome^[3][6]. This rare form affects the blood vessels and internal organs, which can split open and lead to life-threatening bleeding^[3]. People with vascular EDS have thin, translucent skin and are at risk for arterial rupture and organ perforation^[6][7].

Kyphoscoliotic EDS (kEDS) is a rare type that features curvature of the spine starting in early childhood, joint hypermobility, and weak muscle tone from childhood^[3][6]. This muscle weakness may cause delays in sitting and walking or difficulty with movement as symptoms progress.

The other nine types of EDS are quite rare and include Classical-like EDS, Cardiac-valvular EDS, Arthrochalasia EDS, Dermatosparaxis EDS, Brittle Cornea Syndrome, Spondylodysplastic EDS, Musculocontractural EDS, Myopathic EDS, and Periodontal EDS^[6].

Common Signs and Symptoms

The specific symptoms of Ehlers-Danlos syndrome vary depending on which type you have, but there are several common features that appear across most types^[1][4].

Joint hypermobility is one of the hallmark features observed in most forms of EDS^[2][7]. This means your joints have an unusually large range of movement and can move far past what is considered normal^[1][3]. Because the connective tissue that holds joints together is looser, your joints may feel unstable and are more prone to dislocations (when a joint comes completely out of place) and subluxations (partial dislocations)^[2][3]. Joint pain and clicking joints are common complaints^[3].

Skin changes are another frequent feature of EDS. Many people with the condition have stretchy, elastic skin that can be pulled away from the body much more than normal^[1][2]. Your skin might also feel exceptionally soft and velvety^[1]. However, this skin is also fragile and tears or breaks easily^[3]. Damaged skin often doesn’t heal well, and stitches used to close wounds may tear out^[1]. You may also bruise very easily or more often than usual^[3][4].

Beyond these primary features, people with EDS commonly experience a range of other symptoms that can significantly affect daily life. Chronic joint and muscle pain is very common^[4]. Extreme tiredness, or fatigue, affects many people with the condition^[3][4]. Some individuals experience digestive problems such as heartburn and constipation^[3]. Dizziness and an increased heart rate after standing up can also occur^[3]. Difficulty concentrating is another symptom that some people report^[4].

Causes and Risk Factors

Ehlers-Danlos syndrome is caused by genetic mutations, which are changes in your DNA^[4]. Experts have identified mutations in more than 20 different genes that can cause the various types of EDS^[4][7]. All of these genetic changes affect your body’s ability to produce collagen properly^[4]. The specific gene mutation you have determines which type of EDS you develop and which parts of your body are most affected.

EDS is most often inherited in an autosomal dominant pattern, which means you only need to inherit the faulty gene from one parent to develop the condition^[5][8]. If one of your biological parents has EDS, you have a 50 percent chance of inheriting it^[4]. Similarly, if you have EDS, you might pass the mutation to your biological children.

However, not all cases are inherited from parents. Up to 50 percent of people with EDS can have what is called a de novo mutation, meaning the genetic change occurred for the first time in them and was not passed down from either parent^[5][8]. Some types of EDS happen somatically, meaning they occur randomly and cannot be passed through generations of a family^[4].

If someone in your biological family has EDS, especially an immediate relative like a biological parent, grandparent, or sibling, you may have an increased risk of developing the condition^[4]. It’s important to talk to a healthcare provider about testing if you have a family history of EDS.

How is EDS Diagnosed?

Diagnosing Ehlers-Danlos syndrome can be challenging because the condition affects many different body systems and its symptoms can overlap with other conditions^[5]. Many people see multiple doctors before receiving a correct diagnosis.

For many types of EDS, the diagnosis often begins with a physical examination and evaluation of your medical history^[3]. Extremely loose joints, fragile or stretchy skin, and a family history of Ehlers-Danlos syndrome are often enough to make an initial diagnosis^[9]. Your doctor will assess your joints for hypermobility and examine your skin for characteristic features.

Genetic testing on a sample of your blood can confirm the diagnosis in most forms of Ehlers-Danlos syndrome and help rule out other problems^[9][7]. For all types of EDS except hypermobile EDS, specific genes have been identified, making genetic testing possible to confirm the diagnosis^[7]. However, for hypermobile Ehlers-Danlos syndrome, which is the most common form, there is no genetic testing available because the specific genes have not yet been identified^[7][9]. In these cases, diagnosis is made based on a person’s medical history and a physical examination^[3].

If you’re experiencing unexplained joint pain, frequent dislocations, or other symptoms consistent with EDS, it’s important to see a healthcare provider^[3]. Your regular doctor may refer you to a specialist, such as a joint specialist called a rheumatologist, or to a genetics service for further evaluation^[3]. The genetics specialist will ask about your medical history and family history, assess your symptoms, and may carry out a genetic blood test to confirm the diagnosis^[3].

Treatment and Management

There is no cure for Ehlers-Danlos syndrome, but treatment can help you manage your symptoms and prevent potentially dangerous complications^[4][9]. Your healthcare provider will work with you to develop a personalized treatment plan based on your specific type of EDS and which symptoms affect you most.

Medications play an important role in managing symptoms. For pain control, over-the-counter pain relievers such as acetaminophen, ibuprofen, and naproxen sodium are often the first line of treatment^[9]. Stronger medications are typically prescribed only for acute injuries^[9]. If you have a type of EDS that affects blood vessels, your doctor may prescribe medications to keep your blood pressure low in order to reduce stress on the vessels^[9].

Physical therapy is considered the primary treatment for Ehlers-Danlos syndrome^[9]. Because joints with weak connective tissue are more likely to dislocate, exercises that strengthen the muscles around your joints and help stabilize them are essential^[9]. A physical therapist experienced in working with connective tissue disorders can guide you through safe exercises and recommend specific braces to help prevent joint dislocations^[9]. It’s important to progress activities slowly to avoid pain, strain, or poor technique^[13].

Braces and supportive devices can be very helpful in improving joint stability^[9]. Depending on which joints are most affected, you might benefit from knee braces, ankle braces, wrist braces, ring splints for finger joints, or a soft neck collar^[11]. Your healthcare team can recommend the appropriate types of support for your needs.

Protective measures for skin are important for preventing injuries. Very young children with pronounced skin fragility can wear protective pads or bandages over areas prone to injury like the forehead, knees, and shins^[11]. When you do have a wound that requires closure, special care should be taken. Wounds should be closed without tension, preferably in two layers, with stitches left in place twice as long as usual^[11].

Surgical procedures may sometimes be recommended to repair joints damaged by repeated dislocations or to repair ruptured areas in blood vessels^[9]. However, it’s important to note that surgical stabilization of joints may lead to only temporary improvement^[11].

Some people find benefit from high-dose vitamin C therapy, which in theory may help with wound healing and muscle strength^[15]. However, this is not currently considered standard care and requires medical clearance^[15].

Living with Ehlers-Danlos Syndrome

Living with Ehlers-Danlos syndrome requires making certain lifestyle adjustments to protect your health and manage symptoms effectively. Understanding how to adapt your daily activities can significantly improve your quality of life.

Activity modifications are important to prevent injuries while maintaining physical fitness. You may need to avoid contact sports or other high-impact activities that could cause joint injuries^[13]. However, staying active is essential to prevent your muscles and joints from becoming weak. Low-resistance exercises and activities in water can support your body while maintaining cardiovascular health^[13]. It’s important to change positions often when standing, lying, or sitting, and to increase exercise repetitions and resistance slowly over time^[11].

Posture awareness is crucial because good posture habits can help reduce chronic pain^[13]. You might need to adjust how you carry bags or packages to spare your upper back and shoulders^[13]. Some people also need to practice relaxing jaw muscles to prevent tension-related problems.

Managing fatigue requires recognizing that your energy levels can fluctuate from day to day^[13]. Try to stay active and involved in daily life, but pay attention to your body’s needs and rest when necessary^[13]. Improved sleep hygiene and bedtime routines may help you rest better through the night and recharge your energy^[13].

Dietary considerations may be important if you experience digestive symptoms. Your doctor may recommend trying certain dietary modifications or supplements to manage gastrointestinal issues^[13].

Emergency preparedness is essential. Wearing a medical alert bracelet identifying you as having EDS can be life-saving in case of emergencies such as arterial rupture or severe injuries^[5]. Having a wallet-size card that explains your disease to medical personnel is also helpful^[17].

Regular monitoring by healthcare providers is important. If you have EDS, you should have regular cardiac evaluations, including annual echocardiograms to check that your heart is functioning properly^[17][15]. You should also be monitored for scoliosis and other potential complications^[15].

Emotional support is an important aspect of living with a chronic condition. It’s normal to experience grief about the losses and limitations that EDS brings^[17]. Mental health support and psychological therapy can help you develop coping skills and acceptance^[11]. Connecting with others who have EDS through support groups can also be beneficial^[23].

Potential Complications

Ehlers-Danlos syndrome can lead to various complications that range from uncomfortable to life-threatening, depending on the type of EDS you have^[1][4].

Complications related to joints include chronic pain, early-onset arthritis, osteoporosis, and degenerative joint disease^[13]. Frequent joint dislocations and subluxations can cause ongoing pain and functional limitations^[2].

In vascular EDS, the most serious complications involve the blood vessels and internal organs. The weakened walls of blood vessels can rupture, leading to serious internal bleeding^[3][7]. Organs such as the bowel or uterus can also tear, which can be life-threatening^[3]. These complications make vascular EDS particularly dangerous and require careful monitoring.

Pregnancy can pose special risks for women with certain types of EDS, particularly vascular EDS. Because of the potential for serious complications including rupture of the uterus, women with this type may want to talk to a genetic counselor before starting a family^[1].

Some people with EDS also develop associated conditions that affect other body systems. These may include postural orthostatic tachycardia syndrome, mast cell activation syndrome, chronic fatigue, digestive disorders, anxiety, depression, and problems with bladder control^[3][6].

Despite these potential complications, with proper diagnosis, management, and lifestyle modifications, many people with Ehlers-Danlos syndrome can lead full and active lives. The key is working closely with knowledgeable healthcare providers who understand the condition and can help you manage it effectively.