Understanding Hypermobility Syndromes
Each year, thousands of Americans are diagnosed with hypermobility syndromes, including Ehlers-Danlos syndrome, joint hypermobility syndrome, and Marfan syndrome. These conditions are chronic illnesses; although the symptoms can be treated and the syndromes can be managed, they cannot be cured. In large cities like Philadelphia, people with hypermobility syndromes can find a variety of professionals (rheumatologists, pain management specialists, psychotherapists, physical therapists, massage therapists, acupuncturists) to help decrease pain, support joints, and manage the stress of living with a chronic illness.
What are hypermobility syndromes?
20-30% of the population has joints that are hypermobile, or extend beyond the normal range of motion. If you've ever thought of yourself as double jointed, done flexibility “party tricks,” or excelled at difficult yoga poses, you might have hypermobile joints. General hypermobility doesn’t have any negative repercussions or symptoms, and usually declines with age. Many people who are double-jointed as children lose their flexibility as they get older.
Unlike general hypermobility, hypermobility syndromes are chronic, degenerative conditions caused by genetic defects in connective tissue. Hypermobility syndromes are often painful,with symptoms that get worse over time as the joints sustain damage from repeatedly hyper-extending. These conditions are referred to as syndromes because they affect a variety of systems and functions of the body, causing widely varied symptoms all related to a single underlying cause: defective collagen production and structure. Collagen, often thought of as the “glue” that holds the body together, is the most common protein in the human body. Collagen makes up the main structure of fibrous tissue (tendons, ligaments, and skin), and is also found in muscles, eyes, cartilage, bones, and blood vessels. Because collagen plays an important role in so many parts of the body, collagen defects can cause many different issues.
Hypermobility syndromes are all classified as rare diseases, and there is a lack of awareness and understanding of these conditions among the public, physicians, and therapists. Many people go years without getting the right diagnosis or treatment. People with hypermobility syndromes are often initially misdiagnosed with other chronic illnesses, like fibromyalgia or chronic fatigue syndrome. These conditions have similar symptoms to hypermobility syndromes, but without the underlying defects in collagen.
What are the symptoms of hypermobility syndromes?
The most common symptom shared by all hypermobility syndromes is having multiple joints that bend beyond the normal range of motion, accompanied by widespread joint pain. Fatigue, digestive problems, and low blood pressure are other common symptoms. These symptoms can interfere with daily living, and affect an individual's ability to go to work or school. People with hypermobility syndromes may experience a range of severity of symptoms, from mild discomfort to severe impairment, pain, and fatigue. The symptoms of hypermobility syndromes persist and worsen over time, can be degenerative, and do not decline with age, unlike general hypermobility.
What are the types of hypermobility syndrome?
There are three main conditions that fall under the umbrella of hypermobility syndromes: Ehlers-Danlos syndrome, joint hypermobility syndrome, and Marfan syndrome.
Ehlers-Danlos Syndrome: Ehlers-Danlos Syndrome (EDS) is a genetic condition characterized by joint hypermobility, frequent joint dislocations, stretchy skin, easy bruising, and slow wound healing. Less frequently, EDS can also cause problems with digestion, heart rate, and brain structure. A diagnosis of EDS is classified as one of several different types, depending on the primary symptoms and types of collagen affected. The most common type of EDS, Hypermobility-type (EDS-HM), causes chronic pain and fatigue due to regular joint injuries. People with EDS-HM have unstable, overly stretchy joints. Common everyday activities can cause joints to dislocate or partially dislocate.
Joint Hypermobility Syndrome: Similar to EDS, joint hypermobility syndrome (JHS) is a connective tissue disorder resulting in loose and hypermobile joints, chronic pain, and fatigue. JHS is widely considered to be a milder form of Hypermobility-type EDS, with similar symptoms but much less likelihood of joint dislocation.
Marfan Syndrome: Marfan syndrome is a genetic connective tissue disorder causing long, slender limbs, highly stretchy skin, and hypermobile joints. While similar to EDS-HM and JHS, Marfan syndrome also causes significant problems with the bones, eyes, blood vessels, and heart. People with Marfan syndrome have a risk of life-threatening complications like rupture of the aorta, the main artery in the human body. Because of this, early detection and monitoring of Marfan syndrome is extremely important.
How are hypermobility syndromes diagnosed?
Hypermobility syndromes are typically diagnosed by assessing the level of hypermobility in various joints, particularly the elbows, knees, wrists, and knuckles. The presence of hypermobility alone is not enough to warrant a hypermobility syndrome diagnosis, however. You must also experience chronic pain in four or more joints, usually accompanied by other signs of an underlying medical condition: chronic fatigue, bowel or bladder problems, abnormal skin, or frequent dislocation of joints. If an individual meets these criteria, it is possible to do genetic testing to detect any genetic abnormalities that could indicate Ehlers-Danlos or Marfan syndromes.
How does therapy help hypermobility syndromes?
Living with a chronic illness can be difficult, especially for those who are newly diagnosed or experiencing a loss of mobility or worsening of symptoms. Having the support of a therapist can help you:
- Adjust to a recent diagnosis, new limitations, or changing roles in life.
- Manage chronic pain and fatigue.
- Decrease anxiety and depression.
- Grieve the loss of health or physical ability.
- Adapt to a new identity as chronically ill or disabled.
- Deal with changes to relationships and friendships.
Chronic illness therapy can help people with hypermobility syndromes address concerns like anxiety, depression, and pain, while exploring deeper issues of loss, identity, and fears about the future. Psychotherapy has been shown to decrease chronic pain by 5-10%, which can have a significant impact on daily living. In treating hypermobile clients, therapists often use cognitive-behavioral therapy to teach new coping skills for managing pain, change negative thought patterns that can make the pain experience worse, and decrease focus on chronic pain. Therapists can help you use other techniques like guided imagery, mindfulness, and meditation to learn to relax and tune out pain.
Therapy isn't just for individuals. Family or couples therapy may be useful to help the whole family learn how to deal with the stress of illness, pain, and fatigue. Couples may need help to adapt to changing roles within the relationship, or to figure out new ways of having sex that don't cause pain or injury to hypermobile joints. Support groups can help you connect with other individuals and families living with hypermobility syndromes, and provide a space for empathy, understanding, and community. To find a therapist familiar with hypermobility syndromes in Philadelphia, please contact The Center for Growth at 267-324-9564.