Ehlers-Danlos syndrome (EDS) is a group of genetic disorders caused by faulty collagen synthesis; it affects the connective tissues and leads to symptoms such as overly elastic skin, joint hypermobility, and fragile blood vessels. In 2017, 13 variants of EDS were classified, and 12 had distinct genetic characteristics.
What is Ehlers-Danlos syndrome (EDS)?
Ehlers-Danlos syndrome (EDS) is a group of genetic disorders characterized by faulty synthesis of collagen proteins. Collagen is a vital component of connective tissue, which protects and supports many tissues and organs, including the skin, blood vessels, joints, and lungs. Faulty collagen in EDS can lead to overly elastic skin, joint hypermobility, atrophic scarring (a type of scar that doesn’t heal properly), and fragile blood vessels. Over the years, different types of EDS have been categorized, and in 2017, an international guideline was released with 13 variant classifications, 12 of which have known unique genetic characteristics.[1] [2]
What are the main signs and symptoms of Ehlers-Danlos syndrome (EDS)?
Different types of EDS present with different signs and symptoms. People with hypermobile EDS (hEDS) often present with overly flexible and unstable joints, overly stretchy and thin skin, and excessive bruising. EDS can cause a number of secondary complications, such as chronic pain (due to damage to unstable joints), dysautonomia, gastrointestinal dysmotility, mast cell activation (allergies, asthma, etc), and anxiety and phobias. Serious complications, such as vascular or organ rupture, have been reported in vascular and kyphoscoliotic EDS, but all types of EDS should be regularly monitored for serious complications.[2]
How is Ehlers-Danlos syndrome (EDS) diagnosed?
EDS is usually first suspected due to clinical presentation such as skin hyperextensibility, atrophic scars, and shoulder dislocation. It is thought that many milder cases of EDS go undiagnosed. Diagnosis of EDS can be confirmed via genetic testing to identify the responsible gene and variant of EDS. Interestingly, the most common type of EDS (hypermobile) does not have an identified molecular and genetic cause.[1] [2]
What are some of the main medical treatments for Ehlers-Danlos syndrome (EDS)?
There is no known cure for EDS yet. Treatment is specific to the type of EDS, with the goal of managing symptoms (e.g., with pain medications) and preventing damage (e.g., with braces and devices to support joints). It is recommended that patients with EDS be regularly monitored by specialists including cardiologists, rheumatologists, and orthopedists. Preventative measures for cardiovascular complications can include monitoring using tests like echocardiograms (ultrasound of the heart) and management of blood pressure and cholesterol levels. Any wounds usually require special attention due to slowed skin healing.[2]
Have any supplements been studied for Ehlers-Danlos syndrome (EDS)?
Dietary supplements have not been formally studied for EDS. However, supplements may be recommended to correct nutritional deficiencies linked with EDS and to manage symptoms. For example, hEDS has been linked with low vitamin D levels, so supplementation with vitamin D is often recommended. Anecdotally, vitamin C has been tried to improve wound healing and skin fragility, glucosamine for joint pain, and carnitine and coenzyme Q10 for fatigue and muscle weakness.
What's the connection between diet and Ehlers-Danlos syndrome (EDS)?
People with hEDS seem to have more frequent gastrointestinal (GI) complaints including constipation, diarrhea, abdominal pain (possibly due to slowed gastric emptying and abnormal colorectal transit). These symptoms seem to result in suboptimal nutrient intake, changes in nutrient utilization, and unintended weight loss. Dietary modifications, such as following a low FODMAP diet and increasing soluble fiber, have alleviated GI symptoms in other conditions and have been suggested for people with EDS.[3]
Are there any other treatments for Ehlers-Danlos syndrome (EDS)?
Prevention of complications is a key approach in treatment of all types of EDS. Physical and occupational therapy, as well as regular moderate exercise, have been used to prevent joint dislocations, preserve joint function, reduce chronic pain, and slow onset of osteoarthritis.[2]
What causes Ehlers-Danlos syndrome (EDS)?
EDS is caused by inherited gene mutations in collagen processing and synthesis. The different EDS variants involve different mutations with either autosomal dominant or recessive inheritance. Collagen is vital to all body systems, and different gene mutations can affect various types of collagen in different parts of the body, resulting in multiple distinct EDS variants and symptoms. These inherited defects in collagen result in significant vulnerability of various body organs and an increased risk of serious injury from standard activities that do not pose a risk to people without EDS.[2]
Frequently asked questions
What is Ehlers-Danlos syndrome (EDS)?
Ehlers-Danlos syndrome (EDS) is a group of genetic disorders characterized by faulty synthesis of collagen proteins. Collagen is a vital component of connective tissue, which protects and supports many tissues and organs, including the skin, blood vessels, joints, and lungs. Faulty collagen in EDS can lead to overly elastic skin, joint hypermobility, atrophic scarring (a type of scar that doesn’t heal properly), and fragile blood vessels. Over the years, different types of EDS have been categorized, and in 2017, an international guideline was released with 13 variant classifications, 12 of which have known unique genetic characteristics.[1] [2]
Is EDS life-threatening?
Quick answer:
People with Ehlers-Danlos Syndrome (EDS) face an increased risk of life-threatening complications, particularly those with vascular and kyphoscoliotic EDS, due to poor connective tissue integrity. People with all subtypes of EDS should take preventative measures, including regular medical care and symptom monitoring, to mitigate these risks.
Because of poor connective tissue integrity, people with EDS are at an increased risk of life-threatening complications, such as vascular and organ rupture, spontaneous pneumothorax (collapsed lung), and excessive bleeding. The risk of life-threatening complications is greatest among people with vascular and kyphoscoliotic EDS. However, people with other subtypes of EDS are still vulnerable to these complications and should take preventative measures, such as receiving regular medical care, monitoring symptoms, and avoiding strenuous contact sports.[4]
What are the subtypes of EDS and are all passed down from parent to child?
Quick answer:
There are 13 subtypes of Ehlers-Danlos syndrome (EDS), including hypermobile EDS, classical EDS, and vascular EDS; inheritance patterns vary by subtype, and they are either autosomal dominant or autosomal recessive. This means that the likelihood of passing the condition from parent to child depends on the specific subtype and the genetic makeup of the parents.
The 13 types of EDS include classical EDS, classical-like EDS, cardiac-valvular EDS, vascular EDS, hypermobile EDS, arthrochalasia EDS, dermatosparaxis EDS, kyphoscoliotic EDS, brittle cornea syndrome, spondylodysplastic EDS, musculocontractural EDS, myopathic EDS, and periodontal EDS. The most common variant is hypermobile EDS (hEDS), followed by classical EDS (cEDS) and vascular EDS (vEDS).[1][2] The inheritance pattern of EDS varies by subtype, and can either be autosomal dominant or autosomal recessive. In an autosomal dominant inheritance pattern, only one copy of the mutated gene from one parent is needed for the trait to be expressed. This means that if one parent has the mutated gene (and therefore expresses the trait), there is a 50% chance that the child will inherit the gene and exhibit the trait. In the autosomal recessive pattern, two copies of the gene are necessary for the trait to be expressed; therefore, a child's chance of expressing the trait varies from 0%-100% depending on how many copies of the faulty gene each parent has.
| EDS Subtype | Inheritance Pattern |
|---|---|
| Classical EDS | AD |
| Classical-like EDS | AR |
| Cardiac-valvular | AR |
| Vascular EDS | AD |
| Hypermobile EDS | AD |
| Arthrochalasia EDS | AD |
| Dermatosparaxis EDS | AR |
| Kyphoscoliotic EDS | AR |
| Brittle Cornea syndrome | AR |
| Spondylodysplastic EDS | AR |
| Musculocontractural EDS | AR |
| Myopathic EDS | AD or AR |
| Periodontal EDS | AD |
AD, autosomal dominant; AR, autosomal recessive
Adapted from Malfait, F et al., Mar 2017, Am J Med Genet C Semin Med Genet
Are hEDS and Hypermobility Spectrum Disorder (HSD) the same condition?
Quick answer:
hEDS and Hypermobility Spectrum Disorder (HSD) are not the same condition because hEDS requires additional diagnostic criteria, including specific physical features and family history. Although both involve symptomatic hypermobility and similar treatment approaches, the distinctions in their diagnostic criteria are significant.
No. Although the two conditions require similar treatment, there are important differences in the diagnostic criteria.[5] Whereas both conditions involve symptomatic hypermobility, additional criteria need to be met to qualify for an hEDS diagnosis. Physical features such as hyperextensible skin, an arm span-to-height ratio of ≥1.05, and atrophic scarring are considered, as well as family history of hEDS. These unique features facilitate research into the genetic basis of hEDS.[1][6]
| Hypermobile Ehlers-Danlos syndrome (hEDS) | Hypermobility spectrum disorder (HSD) | |
|---|---|---|
| Diagnostic criteria | Must have the following three characteristics: 1) overall joint hypermobility; 2) at least 5 systemic symptoms (e.g. velvet skin, atrophic scars, overly elastic skin); 3) phenotype does not fit an alternative diagnosis | A joint or a group of joints can move beyond physiologic limits. Other etiologies for joint hypermobility are excluded |
| Prognosis | Chronic symptoms that may worsen over time (joint pain, fatigue, headaches, injury) | Chronic symptoms and manifestations that may worsen over time (joint pain, fatigue, injury, headaches) |
| Treatment | Symptom management (pain relief) and preventing injury | Symptom management and preventing injury |
What are the main signs and symptoms of Ehlers-Danlos syndrome (EDS)?
Ehlers-Danlos syndrome (EDS) has various signs and symptoms depending on the type; hypermobile EDS (hEDS) is characterized by overly flexible joints, stretchy skin, and excessive bruising. It can lead to secondary complications like chronic pain, dysautonomia, and anxiety, and serious complications may occur in vascular and kyphoscoliotic EDS, necessitating regular monitoring.
Different types of EDS present with different signs and symptoms. People with hypermobile EDS (hEDS) often present with overly flexible and unstable joints, overly stretchy and thin skin, and excessive bruising. EDS can cause a number of secondary complications, such as chronic pain (due to damage to unstable joints), dysautonomia, gastrointestinal dysmotility, mast cell activation (allergies, asthma, etc), and anxiety and phobias. Serious complications, such as vascular or organ rupture, have been reported in vascular and kyphoscoliotic EDS, but all types of EDS should be regularly monitored for serious complications.[2]
How is Ehlers-Danlos syndrome (EDS) diagnosed?
Ehlers-Danlos syndrome (EDS) is typically suspected based on clinical signs like skin hyperextensibility and shoulder dislocation, though many milder cases may remain undiagnosed. Diagnosis can be confirmed through genetic testing, although the most common type, hypermobile EDS, lacks a known genetic cause.
EDS is usually first suspected due to clinical presentation such as skin hyperextensibility, atrophic scars, and shoulder dislocation. It is thought that many milder cases of EDS go undiagnosed. Diagnosis of EDS can be confirmed via genetic testing to identify the responsible gene and variant of EDS. Interestingly, the most common type of EDS (hypermobile) does not have an identified molecular and genetic cause.[1] [2]
What are some of the main medical treatments for Ehlers-Danlos syndrome (EDS)?
There is no cure for Ehlers-Danlos syndrome (EDS); treatment focuses on managing symptoms and preventing damage and often involves pain medications and supportive devices. Regular monitoring by specialists and preventative measures for cardiovascular complications are also recommended.
There is no known cure for EDS yet. Treatment is specific to the type of EDS, with the goal of managing symptoms (e.g., with pain medications) and preventing damage (e.g., with braces and devices to support joints). It is recommended that patients with EDS be regularly monitored by specialists including cardiologists, rheumatologists, and orthopedists. Preventative measures for cardiovascular complications can include monitoring using tests like echocardiograms (ultrasound of the heart) and management of blood pressure and cholesterol levels. Any wounds usually require special attention due to slowed skin healing.[2]
Have any supplements been studied for Ehlers-Danlos syndrome (EDS)?
Dietary supplements have not been formally studied for Ehlers-Danlos syndrome (EDS), but they may be recommended to address nutritional deficiencies and manage symptoms. For instance, vitamin D is often suggested due to its association with hypermobile EDS, and other supplements like vitamin C, glucosamine, carnitine, and coenzyme Q10 have been used anecdotally for various symptoms.
Dietary supplements have not been formally studied for EDS. However, supplements may be recommended to correct nutritional deficiencies linked with EDS and to manage symptoms. For example, hEDS has been linked with low vitamin D levels, so supplementation with vitamin D is often recommended. Anecdotally, vitamin C has been tried to improve wound healing and skin fragility, glucosamine for joint pain, and carnitine and coenzyme Q10 for fatigue and muscle weakness.
What's the connection between diet and Ehlers-Danlos syndrome (EDS)?
People with hypermobile Ehlers-Danlos syndrome (hEDS) often experience gastrointestinal issues that can lead to poor nutrient intake and unintended weight loss. Dietary changes, like adopting a low-FODMAP diet and increasing soluble fiber, may help alleviate these GI symptoms.
People with hEDS seem to have more frequent gastrointestinal (GI) complaints including constipation, diarrhea, abdominal pain (possibly due to slowed gastric emptying and abnormal colorectal transit). These symptoms seem to result in suboptimal nutrient intake, changes in nutrient utilization, and unintended weight loss. Dietary modifications, such as following a low FODMAP diet and increasing soluble fiber, have alleviated GI symptoms in other conditions and have been suggested for people with EDS.[3]
Are there any other treatments for Ehlers-Danlos syndrome (EDS)?
Treatment for Ehlers-Danlos syndrome (EDS) focuses on preventing complications through physical and occupational therapy, along with regular moderate exercise. These approaches aim to prevent joint dislocations, preserve joint function, reduce chronic pain, and slow the onset of osteoarthritis.
Prevention of complications is a key approach in treatment of all types of EDS. Physical and occupational therapy, as well as regular moderate exercise, have been used to prevent joint dislocations, preserve joint function, reduce chronic pain, and slow onset of osteoarthritis.[2]
What causes Ehlers-Danlos syndrome (EDS)?
Ehlers-Danlos syndrome (EDS) is caused by inherited gene mutations that affect collagen processing and synthesis, and leads to various EDS variants with distinct symptoms. These mutations can result in significant vulnerability of body organs and an increased risk of injury from normal activities.
EDS is caused by inherited gene mutations in collagen processing and synthesis. The different EDS variants involve different mutations with either autosomal dominant or recessive inheritance. Collagen is vital to all body systems, and different gene mutations can affect various types of collagen in different parts of the body, resulting in multiple distinct EDS variants and symptoms. These inherited defects in collagen result in significant vulnerability of various body organs and an increased risk of serious injury from standard activities that do not pose a risk to people without EDS.[2]
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