More than 200 connective tissue diseases – inflammatory conditions of the muscles, joints and skin – have been identified.
The most common connective tissue diseases are rheumatoid arthritis and systemic lupus. In the United States, two million people live with rheumatoid arthritis, and another 1.5 million live with lupus.
A much rarer group of connective tissue diseases is called Ehlers-Danlos syndrome. Unlike the diseases mentioned above, Ehlers-Danlos syndrome is not an autoimmune disease, but a hereditary condition.
What is Ehlers-Danlos Syndrome?
Ehlers-Danlos syndrome can take several forms and is thought to affect 1.5 million people worldwide. Ehlers-Danlos syndrome, which was classified in the early 20th century, is inherited and passed from parent to child.
If you have Ehlers-Danlos syndrome, your body has a problem producing collagen, causing your connective tissue to become weaker than it should.
What are the main signs and symptoms of Ehlers-Danlos syndrome?
Patients may have:
- Skin that can be stretched longer than normal (hyperextensibility)
- Tissue fragility caused by a lack of collagen, the main structural protein that keeps tissues supple
- Easily bruised skin, skin healing problems and unique scars
- Joints that stretch longer than normal (called joint hypermobility)
- Problems with heart valves and blood vessels in some conditions
- Dysautonomia causing dizziness, rapid pulse, fainting, fatigue and gastrointestinal complaints
- Migraine
- fibromyalgia
- Temporomandibular joint pain and dysfunction
- Small fiber neuropathy, a condition that affects the sensory nerves. It causes numbness, tingling or burning sensations
- A feeling of fear, shaking and cold, sweaty hands and feet
- Dark red or bluish color on the legs when you stand up
Causes and risk factors for Ehlers-Danlos syndrome
Ehlers-Danlos can occur as a result of you inheriting the affected genes from your parents. Mutations in at least 19 genes have been linked to Ehlers-Danlos syndromes. There are no other risk factors.
How is Ehlers-Danlos diagnosed?
Your HonorHealth neurologist will first complete a personal and family history and perform an examination. Your neurologist may also perform the following tests to confirm the diagnosis:
- Autonomous trial, which evaluates how your body responds to specific loads
- Blood works
- AEMG, a diagnostic procedure that assesses the health of the muscles and the nerves that control them
Treatment options for Ehlers-Danlos syndrome
The treatment often consists of medication and...physiotherapy. Although there is no cure, there are treatment options for symptoms caused by Ehlers-Danlos syndrome. Although some rare forms of the disease are potentially life-threatening, the majority of patients have a normal life expectancy.
