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
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]
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]
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
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 |
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]
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]
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]
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.
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]
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]
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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References
- ^Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle BThe 2017 international classification of the Ehlers-Danlos syndromes.Am J Med Genet C Semin Med Genet.(2017-03)
- ^Miklovic T, Sieg VCEhlers-Danlos SyndromeStatPearls.(2023-01)
- ^Do T, Diamond S, Green C, Warren MNutritional Implications of Patients with Dysautonomia and Hypermobility Syndromes.Curr Nutr Rep.(2021-Dec)
- ^Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PHThe Ehlers-Danlos syndromes.Nat Rev Dis Primers.(2020 Jul 30)
- ^What is HSD?
- ^National Academies of Sciences, Engineering, and Medicine; Health and Medicine Division; Board on Health Care Services; Committee on Selected Heritable Disorders of Connective Tissue and Disability, Wedge RA, Cartaxo T, Spicer CM, Volberding PASelected Heritable Disorders of Connective Tissue and Disability.(2022 Jul 8)