Integrative Approach and Collaborative Care Model for Ehlers-Danlos Syndrome (EDS)

Ehlers-Danlos Syndrome (EDS) is a group of genetic disorders that weaken connective tissues in the body, impacting the skin, joints, and blood vessel walls. There are different types of EDS, with the hypermobile and classical forms being the most common. Symptoms can vary but often include loose joints, fragile blood vessels, abnormal scar formation, and stretchy skin that easily bruises. Severe complications such as heart valve problems or spinal curvature can also occur in certain types. Above all, please remember the following if you suspect EDS:

1. Genetic testing may be needed for confirmation.
2. There are multiple types of EDS, so an accurate diagnosis is critical to patient care.
3. While there is no cure for EDS, treatment focuses on symptom management and improving quality of life.
4. Treatment involves a multidisciplinary approach, including specialists, lifestyle modifications, manual medicine for joint protection, and muscle support.

How Do You Know If You Have EDS?

There are several types of EDS, ranging from mild to severe. Most share similarities of joint hypermobility (increased range of joint movement) and stretchy and fragile skin that bruises or tears easily. Ehlers-Danlos Syndrome is caused by variants or mutations in the genes involved in collagen production or assembly. One or more parents inherit some cases, while others can occur spontaneously without any genetic component.

Diagnosing EDS requires recognizing specific signs and symptoms for each type and examining one’s family history. To ensure appropriate management, individuals with EDS need to receive a proper diagnosis from healthcare professionals specializing in connective tissue disorders. Clinical symptoms may include musculoskeletal pain, functional impairment, heart rate variability, respiratory problems, and gastrointestinal symptoms.

Understanding the different types of EDS and their associated genes is essential for effectively diagnosing and managing the syndrome. By utilizing a multidisciplinary approach and focusing on symptom management, healthcare professionals can improve the long-term outcomes and quality of life for individuals with EDS.

While the hypermobile and classical types are the most common forms of EDS, there are many forms, including:

1. Classical: Characterized by highly stretchy and fragile skin, easy bruising, and widening scars.
2. Dermatosparaxis: Features loose, wrinkled skin with redundant folds.
3. Vascular: Involves bleeding problems from tearing blood vessels and organs, leading to easy bruising, internal bleeding, intestinal perforation, or stroke.
4. Kyphoscoliotic: Causes worsening spine curvature that restricts lung expansion.
5. Cardiac-Valvular: Affects heart valves, leading to severe heart valve problems.
6. Brittle Cornea Syndrome: Exhibits thin cornea and other eye abnormalities.
7. Spondylodysplastic: Results in short stature and skeletal abnormalities.
8. Musculocontractural and Myopathic: Involves muscle abnormalities and bent joints.
9. Periodontal: Affects teeth and gums.

How EDS Affects Connective Tissues

Since EDS affects connective tissues, its effects can involve organs, muscles, bone structure, and the body’s connective tissues. These tissues provide support and structure to various parts of the body, including the skin, joints, and blood vessels.

One of the primary ways EDS affects the body is through joint hypermobility. This means the joints have a greater range of motion than usual, leading to joint pain, instability, and dislocations. Additionally, the weakened connective tissues can cause problems with the skin, such as increased bruising, slow wound healing, and stretchy or fragile skin. Other common problems with EDS include gastrointestinal issues, respiratory problems, and blood pressure irregularity.

EDS can also affect the cardiovascular system, as the blood vessels may be more prone to dilation or rupture. This can result in complications such as easy bruising, varicose veins, and, in severe cases, life-threatening conditions like arterial ruptures or organ prolapse.

A common condition is postural orthostatic tachycardia syndrome, characterized by lightheadedness, dizziness, and rapid heart rate upon standing up. The connection between POTS and EDS is believed to be due to the underlying abnormalities in the connective tissues in both conditions. There are ways to manage POTS with oversight from an experienced physician. Read more here on how to stay safely active with POTS.

 What Causes Ehlers Danlos Syndrome?

The causes of Ehlers-Danlos Syndrome (EDS) are linked to specific gene variants or mutations. There are various types of EDS, each associated with different gene variants. For example, the classical type of EDS is linked to variants in the COL5A1 or COL5A2 genes, the classical-like type is connected to the TNXB gene, and the vascular type is most commonly caused by variants in the COL3A1 gene.

These gene variants disrupt the production or processing of collagen, a protein that provides structure and strength to connective tissues. When collagen molecules cannot assemble correctly, it leads to EDS’s characteristic signs and symptoms. The prevalence of all types of EDS combined is estimated to be at least 1 in 5,000 individuals worldwide.

In individuals with the vascular type of EDS, mutations in the COL3A1 gene weaken connective tissues in parts of the body that generally contain abundant type III collagen. Another gene associated with EDS is FKBP14, which plays a role in folding procollagens. Mutations in the FKBP14 gene can weaken connective tissues and related symptoms.

Understanding the genetic factors involved in EDS helps explain why individuals with specific mutations experience weakened connective tissues and related symptoms. It is important to note that the inheritance pattern of EDS can vary depending on the type. Genetic testing can provide valuable information for diagnosing and identifying specific types of EDS.

Treating EDS and Coexisting Conditions

While there is no known cure for EDS, Restoration Healthcare suggests that patients seek a clinic that employs collaborative medical professionals who practice integrative medicine. Many patients seek out multidisciplinary support from many types of medical specialists, including:

1. Integrative physicians
2. Rheumatologist
3. Geneticist
4. Orthopedic surgeon
5. Cardiologist
6. Dermatologist
7. Manual medicine therapists

Ehlers-Danlos Syndrome treatment options aim to manage symptoms and prevent complications, which requires close collaboration with healthcare professionals is crucial to determine the most appropriate regimen. The following treatment options are commonly used for individuals with EDS:

1. Integrative medicine: Physicians specializing in chronic diseases like EDS can help control pain, reduce inflammation, and manage specific symptoms associated with EDS, such as gastrointestinal issues or cardiovascular complications. Dietary changes are often called for to manage blood pressure and address gastrointestinal problems.
2. Manual medicine and therapy: Manual medicine and therapy play a crucial role in managing EDS by strengthening muscles, improving joint stability, and enhancing mobility. Working with manual medicine experts allows individuals to learn exercises and techniques that are safe for their joints and enable mobility and activity.
3. Lifestyle modifications: This type of care is highly recommended to minimize joint strain and prevent injuries. Changes may include avoiding activities that exacerbate joint instability, practicing proper body mechanics, using assistive devices when necessary, and engaging in low-impact exercises like swimming or cycling. Protecting the skin from injuries and managing wound healing is also important.
4. Multidisciplinary approach: Due to the complex nature of EDS, a multidisciplinary approach involving specialists such as geneticists, rheumatologists, orthopedic surgeons, and physical therapists is essential. This ensures treatment plans are tailored to each individual’s symptoms and needs.
5. Surgical interventions: In some instances, surgery may be necessary to address specific complications associated with EDS, like ventral herniation or vascular issues such as aortic dissection or mitral valve prolapse. However, a healthcare professional should carefully evaluate the decision to undergo surgery.

 Is There a Cure for EDS?

While there is no cure for EDS, ongoing research provides hope for future advancements in understanding and treating the condition. Staying informed about new developments and discussing them with healthcare providers is vital to improving the quality of life for individuals with Ehlers-Danlos Syndrome (EDS). Relief includes strategies for:

• Pain management and complementary therapies like acupuncture or chiropractic care.
• Joint support with braces, splints, or orthotics can stabilize joints and reduce discomfort.
• Gastrointestinal management is critical because many individuals with EDS experience digestive symptoms. Identifying trigger foods, following a low FODMAP diet, and considering dietary modifications can alleviate digestive issues and prevent weight loss.
• Psychological distress and psychiatric disorders are often associated with EDS. Access to counseling, therapy, and support groups can help individuals cope with the emotional impact of the condition.

Integrated care for EDS requires close collaboration between healthcare professionals from different specialties to ensure comprehensive management of EDS. A coordinated approach involving integrative physicians, cardiologists, orthopedic specialists, gastroenterologists, pain specialists, physical therapists, and psychologists provides a holistic treatment approach.

Patient education empowers individuals with knowledge about their condition, essential for self-management. A better understanding of treatments and available resources helps individuals make informed decisions and improves quality of life.

In summary, treatment options for Ehlers-Danlos Syndrome involve a multidisciplinary approach, including integrative medicine, manual medicine and therapy, lifestyle modifications, and, in some cases, surgical interventions. Collaborating closely with healthcare professionals and staying informed about ongoing research is crucial for managing EDS effectively.

If you live in Orange County or Los Angeles and are seeking a physician for EDS, learn more here and how to request a new patient packet.