Ehlers–Danlos syndrome (EDS)
Ehlers–Danlos syndrome (EDS) is a group of connective tissue disorders characterized by symptoms such as overly stretchy and fragile skin, as well as excessively flexible joints. The most common form, known as classic EDS, allows individuals to stretch their skin significantly and bend their joints in ways that may be considered unusual. While EDS itself is rarely life-threatening, it can lead to complications like joint dislocations, chronic pain, and scarring. Historically recognized since ancient times, formal identification of EDS began in the late 19th century, with contributions from physicians Ehlers and Danlos, after whom the syndrome is named.
Individuals with EDS can experience a wide range of symptoms, including poor wound healing and various secondary issues such as scoliosis and heart valve irregularities. Current estimates suggest that EDS affects approximately 1 in 2,500 people globally, with at least thirteen recognized types, each presenting different symptoms and severity. Although EDS is a genetic disorder with potential hereditary implications, no cure currently exists. Diagnosis can aid individuals in managing symptoms and accessing appropriate treatments, making awareness of this condition important for those who might be affected.
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Ehlers–Danlos syndrome (EDS)
Ehlers-Danlos syndrome (EDS) is a medical term referring to any of several disorders of the connective tissue in humans. In its most common form, EDS causes skin to be unusually stretchy and fragile and joints to be excessively flexible. People with EDS may be able to pinch and pull their skin far from their bones and bend their joints in unusual directions. These symptoms are rarely life-threatening, although they can lead to more serious problems such as scarring, joint dislocation, and fragility of organs and blood vessels. Physicians identified EDS symptoms in ancient times, but the syndrome was only formally defined beginning in the 1890s. In the twenty-first century, EDS is relatively common, and people have many treatment options, although a permanent cure or prevention program is not yet known.
Brief History
The symptoms of Ehlers-Danlos syndrome (EDS) appeared in historical records long before the syndrome was formally identified or diagnosed. Hippocrates, the eminent physician of ancient Greece, noted weak joints and abnormally scarred skin in some of his patients in 400 BCE. Observations such as this suggest that EDS may have always been a factor in human health, although it has only been medically recognized in relatively recent times.
In the 1700s and 1800s, many people gained notoriety due to unusual physical features likely related to EDS. Italian musician Niccolò Paganini impressed audiences not only with his masterful violin playing but also with his strange ability to contort his hands, arms, and body while performing. Others became known for their physical abnormalities alone, often in exploitative ways. Some joined circuses or other demonstrations, going by monikers such as "The Human Pretzel" or "The Rubber Lady."
Formal modern research into the syndrome began around 1892, when Russian physician Alexandre Nicolaiev Tschernogobov conducted a study of two patients with skin and joint abnormalities exhibiting the qualities of EDS. Shortly after, two other doctors performed similar studies and produced influential reports on their findings. Danish physician Edvard Ehlers and French physician Henri-Alexandre Danlos created detailed case studies in 1901 and 1908, respectively.
The work of Ehlers and Danlos clearly outlined the major defining features of the syndrome, which was named the "Ehlers–Danlos syndrome" in their honor in 1936. Since that time, physicians have diagnosed the syndrome in thousands of people from populations around the world.
Overview
Ehlers–Danlos syndrome (EDS) describes several disorders of the connective tissue, a material that bonds other kinds of tissue in the human body, both strengthening this tissue and giving it the ability to move. Connective tissue is an important part of the skin and joints, two body parts most often affected by EDS. The primary symptoms of the most common form of EDS, sometimes known as "classic EDS," directly demonstrate the impact of the tissue weakness in the skin and joints.
EDS may affect the skin of humans in two primary ways. First, it causes the skin to be unusually stretchy. This phenomenon is known as "hyperextensibility." The weak connective tissue in the skin means that a person can pinch his or her skin and stretch it abnormally far away from the bones and muscles. The skin will generally return quickly to its former position, however. Second, the weak connective tissue related to EDS makes skin fragile, easily damaged, and difficult to repair. Skin injuries among people with EDS may heal poorly and resist medical stitches, which rip through the skin instead of holding it. Many people with EDS develop unusually large scars after injuries.
EDS may also have a profound effect on the connective tissue in the joints of the body, such as finger, arm, and leg joints. The weaker grip of connective tissue in the joints allows people with EDS to move their joints past the regular range of motion, a condition known as "hypermobility." For example, someone with EDS may be able to bend his or her fingers in the opposite direction. For many people, this does not lead to serious health consequences; however, it makes joints dislocate more easily and may also contribute to joint irritation and arthritis.
People with EDS report many different experiences, as well as a wide range of possible secondary symptoms. These symptoms include chronic pain of the bones and muscles, most often among people with hypermobility; scoliosis and other spinal disorders; distortion of the heart valves; and even dental and gum diseases.
Researchers have determined that EDS is relatively common in all world populations, regardless of race and sex. As many as 1 in 2,500 people may be affected by the syndrome. The prevalence of EDS is partly due to the wide variety of disorders included in the syndrome. Physicians have identified at least thirteen distinct types of EDS. Additionally, occurrence and severity of EDS symptoms may differ greatly among people with the syndrome. For instance, some may only have mild skin symptoms and significant joint symptoms, or vice versa.
Most varieties of EDS are not life-threatening. Some, however, such as vascular-type EDS, can present serious dangers. Vascular-type EDS can cause weaknesses in the blood vessels and organs that can lead to potentially deadly ruptures. This danger may be especially great during pregnancy when the uterus stretches.
The causes of EDS are uncertain and may vary depending on the particular disorder in question. However, researchers know that EDS is a genetic disorder, and some of its genetic causes may be inherited from parents or passed on to children. The likelihood of passing on the most common EDS gene to children is approximately 50 percent. Some health professionals encourage people with EDS who want to have children to consult with genetic experts to help determine the risk of passing the syndrome to their offspring.
Scientists have not found a cure for EDS or a way to prevent its transmission. However, a diagnosis of EDS can be helpful in determining the causes of symptoms and finding appropriate treatments. People with symptoms resembling those of EDS can undergo specialized examinations to help find which, if any, EDS subtype best matches the conditions.
Bibliography
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"Ehlers-Danlos Syndrome." Mayo Clinic, 2017, www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/symptoms-causes/syc-20362125. Accessed 26 Oct. 2017.
"Ehlers-Danlos Syndrome." Physiopedia, www.physio-pedia.com/Ehlers-Danlos‗Syndrome. Accessed 26 Oct. 2017.
"Ehlers-Danlos Syndrome." The Marfan Foundation, 2014, www.marfan.org/ehlers-danlos. Accessed 26 Oct. 2017.
"Ehlers-Danlos syndrome." U.S. National Library of Medicine, ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome. Accessed 26 Oct. 2017.
Knight, Isobel. A Guide to Living with Ehlers-Danlos Syndrome (Hypermobility Type): Bending Without Breaking, 2nd Ed. Singing Dragon, 2015.
"What are the Ehlers-Danlos Syndromes?" The Ehlers-Danlos Society, 2017, www.ehlers-danlos.com/what-is-eds/. Accessed 26 Oct. 2017.