Connective tissue disease - Ehlers-Danlos syndrome
More than 200 connective tissue diseases – inflammatory disorders of muscle, joints and skin — have been identified.
The most common connective tissue disorders are rheumatoid arthritis and systemic lupus. In the U.S., two million people live with rheumatoid arthritis, and another 1.5 million live with lupus.
A much rarer group of connective tissue disorders is called Ehlers-Danlos syndrome. Unlike the diseases noted above, Ehlers-Danlos syndrome is not an autoimmune condition, it's an inherited disorder.
What is Ehlers-Danlos syndrome?
Ehlers-Danlos syndrome can take one of several forms and is believed to affect 1.5 million people around the globe. Classified at the beginning of the 20th century, Ehlers-Danlos syndrome is inherited, passed from parent to child.
If you have Ehlers-Danlos syndrome, your body has a problem producing collagen, making your connective tissues weaker than they should be.
What are the primary signs and symptoms of Ehlers-Danlos syndrome?
Patients can have:
- Skin that can be stretched farther than normal (skin hyperextensibility)
- Fragility of tissue caused by a deficiency in collagen, the primary structural protein that helps tissues stay supple
- Easily bruised skin, problems with healing skin and unique scarring
- Joints that stretch farther than normal (called joint hypermobility)
- Issues with heart valves and blood vessels for some conditions
- Dysautonomia, causing light-headedness, rapid heart rate, fainting, fatigue and gastrointestinal symptoms
- Migraine headache
- Fibromyalgia
- Temporomandibular joint pain and dysfunction
- Small fiber neuropathy, a condition that affects the sensory nerves. It causes numbness, tingling or burning sensations
- A sense of anxiety, tremor, and cold, sweaty hands and feet
- Dark red or bluish color to the legs when standing up
Causes and risk factors of Ehlers-Danlos syndrome
Ehlers-Danlos can occur as a result of inheriting 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 medical history and conduct an exam. Your neurologist may also conduct the following tests to confirm diagnosis:
- Autonomic testing, which evaluates how your body reacts to specific stresses
- Bloodwork
- An EMG, a diagnostic procedure that assesses the health of muscles and the nerves that control them
Treatment options for Ehlers-Danlos syndrome
Treatment often consists of medications and physical therapy. Although there's 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.