Medically reviewed by Dr Itender Pal Singh
Ehlers-Danlos Syndrome (EDS) is a collection of genetic disorders that affect the body’s connective tissue, particularly collagen. Collagen, a vital structural protein, plays a crucial role in providing strength and flexibility to various tissues, including skin, bones, and blood vessels. Individuals with EDS experience a range of symptoms, from skin abnormalities to joint issues and vascular complications, depending on the specific subtype of EDS they have. Here we will get into the different subtypes of EDS, their symptoms, and available management strategies.
What is Ehlers-Danlos Syndrome (EDS)?
EDS is caused by genetic mutations that lead to defects in collagen or collagen-related proteins. Collagen is essential for maintaining the integrity of connective tissues, which are found throughout the body. These defects result in varying degrees of weakness, elasticity, and fragility in tissues, leading to the diverse symptoms seen in Ehlers-Danlos Syndrome patients.
Symptoms of Ehlers-Danlos Syndrome
The symptoms of Ehlers-Danlos Syndrome can vary widely depending on the subtype. However, some common signs include:
- Skin Abnormalities: Individuals with Ehlers-Danlos Syndrome often have soft, velvety skin that may be unusually stretchy and prone to bruising. Scarring is another common issue, with scars often appearing thin and papery.
- Joint Hypermobility: Many people with Ehlers-Danlos Syndrome have excessively flexible joints, which can easily dislocate. This hypermobility can lead to chronic pain and an increased risk of joint injuries.
- Vascular Complications: Some forms of Ehlers-Danlos Syndrome, particularly the vascular type (vEDS), are associated with fragile blood vessels, which can lead to life-threatening complications such as arterial rupture or severe bleeding.
Classification and Subtypes of Ehlers-Danlos Syndrome
Over time, the classification of EDS has evolved. Initially, it was categorized into six subtypes based on symptoms and inheritance patterns. The latest classification, published in 2017, recognizes 13 subtypes, each associated with specific genetic mutations. Here are some of the key subtypes:
1. Classical EDS (cEDS)
Characterized by skin hyperextensibility, atrophic scarring, and joint hypermobility, cEDS is caused by mutations in the COL5A1 and COL5A2 genes. These genes encode type V collagen, a crucial component of connective tissue.
2. Hypermobile EDS (hEDS)
hEDS is the most common subtype, featuring joint hypermobility, chronic pain, and skin that may be mildly stretchy or bruises easily. The exact genetic cause of hEDS remains unidentified, although some cases are linked to mutations in the TNXB gene.
3. Vascular EDS (vEDS)
vEDS is one of the most severe forms, with a high risk of arterial rupture, intestinal perforation, and uterine rupture during pregnancy. It is caused by mutations in the COL3A1 gene, which encodes type III collagen, a critical component of blood vessels and hollow organs.
4. Kyphoscoliotic EDS (kEDS)
This subtype is characterized by severe scoliosis, muscle weakness, and fragile eyes that may be prone to rupture. kEDS is caused by mutations in the PLOD1 or FKBP14 genes, affecting collagen processing and stability.
5. Arthrochalasia EDS (aEDS)
aEDS leads to congenital hip dislocation, severe joint hypermobility, and skin that bruises easily. It is caused by mutations in the COL1A1 or COL1A2 genes, which encode type I collagen, a major component of bones and skin.
6. Dermatosparaxis EDS (dEDS)
dEDS is associated with extremely fragile and sagging skin. It is caused by mutations in the ADAMTS2 gene, which is involved in the processing of type I collagen.
7. Musculocontractural EDS (mcEDS)
This subtype is characterized by multiple congenital contractures, craniofacial deformities, and skin hyperextensibility. mcEDS is caused by mutations in the CHST14 and DSE genes, which play a role in the synthesis of dermatan sulfate, a component of connective tissue.
8. Myopathic EDS (mEDS)
mEDS presents with muscle weakness, hypotonia, and scoliosis. It shares similarities with other forms of muscular dystrophy and is caused by mutations in the COL12A1 gene.
Diagnosis of Ehlers-Danlos Syndrome
Diagnosing EDS typically involves a thorough clinical evaluation, including a review of the patient’s medical history and a physical examination. Key diagnostic features may include:
- Skin and Joint Assessment: Physicians may assess skin hyperextensibility by gently pulling the skin and evaluating joint hypermobility using the Beighton scale.
- Imaging and Laboratory Tests: Specialized imaging tests such as MRI, CT scans, and echocardiograms can help identify complications like mitral valve prolapse or aortic dilatation. Genetic testing is also crucial for confirming the specific subtype of EDS, especially for those with a family history of the disorder.
Management and Treatment
While there is no cure for EDS, various management strategies can help reduce symptoms and prevent complications:
1. Skin Care
- Patients with EDS should take extra care of their skin to prevent injuries. Deep stitches may be necessary for surgical wounds, and superficial stitches should be carefully applied to minimize scarring.
- Vitamin C supplements may help reduce bruising and support wound healing.
2. Joint Protection
- Avoiding Strenuous Activities: High-impact sports and heavy lifting should be avoided to reduce the risk of joint dislocations.
- Physical Therapy: Low-resistance exercises and physical therapy can help strengthen muscles and support joints, improving overall mobility and reducing pain.
3. Cardiovascular Care
- Blood Pressure Management: Controlling blood pressure is essential for patients with vEDS to reduce the risk of arterial rupture. Regular monitoring and early intervention are crucial.
- Non-Invasive Screening: Ultrasound, MRI, or CT scans should be used for routine monitoring of the cardiovascular system to detect potential complications early.
4. Surgical Considerations
- High-Risk Procedures: Surgery should be carefully considered, especially for non-life-threatening conditions, as patients with EDS are at higher risk of complications such as wound dehiscence and arterial rupture.
- Pregnancy Management: Pregnancies in women with EDS, particularly vEDS, should be closely monitored by specialists familiar with the disorder to minimize the risk of uterine rupture or other complications.
5. Pain Management
- Pain management strategies should be tailored to the individual, considering the severity and location of pain. This may include the use of assistive devices like braces, wheelchairs, or comfortable writing utensils.
Associated Disorders and Differential Diagnosis
Several other conditions share symptoms with EDS, making diagnosis challenging. Some of these include:
- Hypermobility Spectrum Disorders (HSD): These conditions share joint hypermobility and pain with EDS but are generally milder.
- Occipital Horn Syndrome (OHS): This X-linked disorder affects copper metabolism, leading to connective tissue abnormalities and skeletal deformities.
- Loeys-Dietz Syndrome (LDS): An autosomal dominant disorder characterized by arterial tortuosity, widely spaced eyes, and aortic aneurysms.
- Marfan Syndrome (MFS): A connective tissue disorder with features such as tall stature, long limbs, and cardiovascular complications.
Living with Ehlers-Danlos Syndrome : Patient Support and Education
Living with EDS requires a comprehensive approach that includes patient education, support networks, and regular medical follow-ups. Patients should be informed about the importance of avoiding activities that may exacerbate their symptoms and be encouraged to seek medical attention for any sudden or unexplained pains. Wearing a MedicAlert bracelet can be life-saving in emergencies, ensuring that healthcare providers are aware of the patient’s EDS status.
Ehlers-Danlos Syndrome is a complex group of genetic disorders that require careful management to prevent serious complications. By understanding the specific subtype and implementing appropriate preventative measures, patients with EDS can lead healthier, more active lives. Continued research into the genetic causes of EDS will hopefully lead to improved diagnostic tools and therapies in the future.
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Sources –
Harrison manual of Internal Medicine
National Organization for Rare Disorders. Ehlers Danlos syndromes.
National Center for Advancing Translational Sciences/Genetic and Rare Diseases Information Center: “Hypermobile Ehlers-Danlos syndrome.”
Pagon, R. Gene Reviews, University of Washington, Seattle, 2003-2017.
Cleveland Clinic: “Ehlers-Danlos Syndrome.”
Weill Cornell Medicine: “Diagnosing Ehlers-Danlos Syndrome.”
