Ehlers-Danlos Syndromes
Ehlers-Danlos syndromes (EDS/hEDS) are hereditary connective tissue illnesses that cause aberrations in collagen and other connective tissue proteins, causing structural and functional abnormalities.
Connective tissues are specialized tissues in the body that can be found all over the body. In addition to holding structures together and supporting organs and the body, connective tissues store fat, move substances, fend off disease, and aid tissue healing.
With EDS, the proteins that build up connective tissue are faulty because of coding abnormalities within a person’s DNA. Connective tissue abnormalities affect every body part, from joints and skin to the gastrointestinal tract.
EDS does not only cause structural abnormalities. It affects the function of organ systems as well.
Ehlers-Danlos syndrome is a complex, multifaceted condition that requires a comprehensive and integrative approach for effective management. By combining advanced diagnostics, individualized care plans, and holistic therapies, we aim to improve the quality of life for those living with EDS. Our focus is on treating the whole person, not just the symptoms.
If you’re seeking expert care for EDS in the San Francisco Bay Area, DAO Integrated Health offers tailored treatments using a blend of conventional and holistic therapies. Make an appointment today and take control of your EDS.
Symptoms
EDS presents a wide range of symptoms, often varying by type:
1. Joint Symptoms:
- hypermobility
- instability
- dislocations
- deformities
- scoliosis
2. Skin Symptoms:
- fragility
- easy bruising
- delayed wound healing
- atrophic scarring
3. Organ Symptoms:
- hernias
- organ prolapse
- rupture of blood vessels or internal organs
4. Other Symptoms:
- chronic pain and fatigue
- gastrointestinal issues such as slow motility or tortuous colon
- cardiovascular abnormalities, including mitral valve prolapse or aortic root dilation
- dental and periodontal disease
- eye complications like myopia or retinal detachment
Causes
EDS is primarily caused by genetic mutations that affect collagen production or function. Most types of EDS have an identifiable genetic variant, with autosomal dominant or recessive inheritance patterns. However, hypermobile EDS (hEDS) remains genetically unexplained, though it is believed to have a genetic basis still under research.
Types of Ehlers-Danlos syndromes
Ehlers-Danlos syndromes have thirteen types. Genetic variations cause the condition in all subtypes except hEDS. Since the 2017 criteria were published, two more genes have characterized new EDS kinds. COL1A1/A2 gene variation overlapping EDS, AEBP1-related EDS, and Osteogenesis Imperfecta are examples.
Diagnosis
Diagnosis of EDS can be challenging due to overlapping symptoms with other connective tissue disorders. It involves:
1. Clinical Evaluation:
Physical examination and assessment against the 2017 diagnostic criteria for each type of EDS.
2. Genetic Testing:
Identification of specific gene mutations for most types, except hEDS.
3. Differential Diagnosis:
Ruling out other conditions like Marfan syndrome, Loeys-Dietz syndrome, and Hypermobility Spectrum Disorder (HSD).
4. Clinical Diagnosis of hEDS:
Based on clinical criteria in the absence of a genetic marker, requiring ongoing research for molecular confirmation.
Risk Factors
Factors that may increase the likelihood of EDS or its complications include:
- family history of EDS or related connective tissue disorders
- female sex (hEDS is more common in women)
- lack of awareness or misdiagnosis due to the rarity and complexity of the condition
- physical trauma or repetitive stress on joints
Is Hypermobility Spectrum Disease (HSD) a type of Ehler-Danlos Syndrome or h-EDS?
Some persons suffer joint hypermobility, instability, damage, and pain similar to EDS. However, they do not exhibit systemic connective tissue dysfunction, which is the hallmark of EDS. These individuals do not have EDS or any other hypermobility-related connective tissue disorder like Marfan syndrome or Loeys-Dietz syndrome.
When hypermobility, instability, and joint and muscle damage have no apparent cause, this is medically known as Hypermobility Spectrum Disease (HSD). You may receive an initial diagnosis of HSD. If your symptoms progress to include: tortuous colon, slow esophageal function, skin tearing and/or slow skin repair time, Mast Cell Activation Syndrome, chronic migraines and/or history of scoliosis, please talk to your doctor again and see if your diagnosis may need changing. An EDS diagnosis affects how other healthcare providers will review your health and your needs going forward and greatly change the trajectory of your healthcare management. It can take up to 30 years to get a proper diagnosis due to the lack of training in the medical community around EDS. Substantial efforts are being made to expand knowledge and support to the EDS community. We are here to help.
Incidence of HSD
A comprehensive medical record analysis suggests that 1 in 500-600 people have HSD. HSD may be missed or misdiagnosed, making it more frequent.
Ehlers-Danlos syndrome prevalence
Ehlers-Danlos syndromes affect 1 in 3,500–5,000 people. The hypermobile version (hEDS) is the most prevalent and may be more common than that due to misdiagnosis as HSD. Other EDS types are rare—1 in 40,000–200,000—and others are ultra rare —1 in a million. EDS can cause congenital disabilities and worsen with time in people of all races.
How is Ehlers-Danlos inherited?
Ehlers-Danlos syndromes are inherited autosomally dominant or recessive.
Functional Medicine Treatment
Ehlers-Danlos Syndrome prognosis
There is no cure for Ehlers-Danlos syndrome. However, most people benefit from various treatments ranging from Dietary modification, Physical Therapy, Acupuncture, Cranial Sacral, and Stress Reduction techniques.
EDS affects each person differently, and symptoms can vary widely within a family. Ehlers-Danlos syndrome type and the individual’s overall health affect prognosis. Vascular EDS (vEDS) and other unusual EDS can cause organ and vessel rupture and early death. Scoliosis that severely restricts breathing may raise lung disease risk and life expectancy. Gastrointestinal failure can cause failure in other organs. Most people who have EDS live average lifespans.
Acupuncture for EDS
Ehlers-Danlos Syndrome prognosis
Acupuncture can be an effective complementary therapy for managing EDS symptoms by:
Reducing Chronic Pain:
Stimulating endorphin release and reducing inflammation.
Improving Circulation:
Enhancing blood flow to affected tissues for better healing.
Relieving Gastrointestinal Issues:
Supporting motility and reducing bloating or discomfort.
Lowering Stress:
Promoting relaxation and reducing cortisol levels.
How to Improve Your Overall Well-Being
To optimize health and well-being with EDS, consider the following lifestyle adjustments:
Maintain a Balanced Diet:
Focus on whole, nutrient-dense foods and adequate hydration.
Prioritize Gentle Exercise:
Engage in low-impact activities like swimming, pilates, or yoga to build strength without stressing joints.
Sleep Hygiene:
Ensure restorative sleep to support tissue repair and energy levels.
Protect Joints:
Use braces or orthotics as needed and practice proper body mechanics.
Conclusion
Living with Ehlers-Danlos syndrome presents unique challenges, but with the right support, those affected can manage their condition and improve their quality of life.
At DAO Integrated Health, we offer specialized care for individuals with EDS in the San Francisco Bay Area, combining integrative medicine with personalized treatment plans. Our approach aims to address the complexities of this condition, providing lasting relief and better health outcomes.
For those across the USA, we also provide telehealth services, ensuring expert care is accessible from anywhere.