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Ehlers Danlos Syndrome
Ehlers-Danlos Syndrome (EDS) is a group of health conditions impacting connective tissue within the body. EDS is a genetic condition passed down from parents to their children. EDS can be classed into 13 subtypes, each with their own presentation of symptoms and genetic causes. The combined prevalence is about 1 in 5000 classing it as a rare disease.
What is Ehlers-Danlos Syndrome?
EDS is caused by variations in the genetic sequence that codes for connective tissue. Variants in this code impact connective tissue and create errors in the tissue that acts as the glue in the body’s ligaments, muscles, and organs. The subtypes of EDS can impact a range of systems in the body from the heart, the skin, the digestive system, and the nervous system. Although the subtypes can have a variety of impacts on different connective tissue types, it is common to present with joint hypermobility, and skin issues including stretchy and fragile skin.
EDS is often referred to as an “invisible illness” as many of the symptoms experienced by individuals with EDS are not visible externally. EDS is much more than stretching skin and hypermobility as it impacts almost every system within the body. Symptoms can range from mild to severe, with the potential for disability and large impacts on an individual's quality of life.
Symptoms and Co-morbidities of Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome can impact quality of life in a variety of ways, with symptoms ranging from mild to severe. Individuals experiencing mild symptoms may still be able to participate in contact sports, however those experiencing severe symptoms may struggle to participate in daily activity. These symptoms may change across an individual's lifetime. Symptoms and comorbidities experienced by those with Ehlers-Danlos syndrome may include;
- Soft velvety-like skin
- Skin hyper-extensibility
- Fragile skin
- Poor wound healing
- Hypertrophic scars
- Bruise easily
- Joint subluxation/dislocations
- Generalised Joint Hypermobility
- Musculoskeletal pain
- Muscle Weakness
- Autonomic Dysfunction
- Fatigue
- Chronic Pain
- Cognitive Impairments
- Clumsiness/Poor coordination
- Gastroparesis
- Heart valve problems
- Fragile blood vessels
- High blood pressure
- Irritable Bowel Syndrome (IBS)
- Craniocervical instability
- Migraines
- Chiari malformation
- Postural orthostatic tachycardia syndrome (POTS)
- Mast Cell Activation Syndrome (MCAS)
- Temporomandibular joint dysfunction (TMJ)
- Characterising facial features such as thin nose (vascular subtype only)
Treatment and Support
A wide variety of treatment options are available to individuals with EDS. Treatment options should be individual to each patient and discussed with their care team to best optimise treatment and support.
Support options include:
- Assistive mobility devices
- Braces and splints
- Dietitian and nutritionist support
- Exercise physiology
- Hydrotherapy
- Massage therapy
- Medications
- Occupational therapy
- Pain management
- Physiotherapy
- Psychologist
- Podiatry
- Speech pathologist
- Surgery
- Specialist doctors (neurologist, cardiologist, immunologist, allergist, rheumatologist, etc.)
- Vitamins and supplements
- Medications
Diagnosis Ehlers-Danlos Syndrome:
Ehlers-Danlos Syndrome can be diagnosed by a specialist doctor called a geneticist. Geneticists specialise in genes and genetic diseases. The hypermobile subtype of EDS (hEDS) is the most common form. Forms of EDS such as hEDS can be diagnosed by a rheumatologist, who is a specialist in immune-related joint, muscle and bone diseases.
Geneticists may order tests based on your family medical history and symptoms to determine any medical disorders that may account for symptoms experienced.
Rheumatologists will use the EDS diagnostic criteria to determine if you meet the diagnostic checklist for hEDS.
