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Imagine having extreme flexibility and stretchy skin. Sounds a lot like something from a science-fiction movie, right? People with Ehlers-Danlos Syndrome live with this condition in their everyday lives. Ehlers-Danlos Syndrome (EDS) is when the body's connective tissue is weaker than normal. This condition mostly affects one's skin and joints. EDS can cause many problems, including joint hypermobility, fatigue, and easy bruising. Symptoms differ based on the type of EDS - hypermobility of joints, repetitive dislocations of joints, spinal deformity, organ prolapse, easy skin bruising etc. EDS is genetically transmitted from parent to child, but there have been cases when a person develops EDS due to spontaneous mutations in the genes involved in collagen function causing abnormalities in connective tissues.
Ehlers-Danlos Syndrome is named after two doctors, Dr. Ehlers and Dr. Danlos. However, Hippocrates first described a condition like EDS in 400 B.C. Van Meekeren didn't discuss it medically until the late 17th century. A man surnamed Tschernogubow presented about an ailment that would become known as Ehlers-Danlos Syndrome, but because the research was published in Russian, news of EDS barely reached the rest of the medical world. In 1901, dermatologist Edvard Ehlers recognized the condition. In 1908, dermatologist Henri-Alexandre Danlos suggested that skin extensibility and fallibility are both indications of a syndrome. In 1936, the name for the syndrome was given by an English doctor called Frederick Parkes-Weber. After that, a person named Barabas (full name unknown) found three types of modern EDS subtypes —classical, varicose, and arterial based on experience with 27 experienced individuals. Today, the old ideas of dermatologists Ehlers and Danlos still hold true to some degree, and further research on the syndrome has revealed less obvious problems, such as chronic pain and digestive issues.
There are 13 different types of EDS classified so far. The most common type of EDS is hypermobile EDS (hEDS) which leads to partial and complete dislocation of joints and smooth, soft, and velvety skin that bruises easily. hEDS accounts for 90% of EDS cases and affects 1 in 3,100-5,000 people. Classical EDS (cEDS) is characterized by extremely elastic skin and hypermobility of joints. Between 1 in 20,000 and 40,000, people have cEDS. Vascular EDS is the most dangerous form of EDS, as it causes arterial fragility, organ fragility and rupture, translucent skin, and extensive bruising. Vascular EDS can be fatal, and it affects 1 in 200,000-400,000 people. Other types of EDS, including periodontal, cardiac-valvular, and classical-like, affect less than 1 in a million people. Continued research on EDS may increase the classifications.
13 Types of EDS and its impacted Gene | |
Hypermobile (hEDS) | Unknown |
Classical (cEDS) | Type V Collagen (COL5A1, COL5A2) |
Vascular (vEDS) | Type III Collagen (COL3A1) |
Classical-like (clEDS) | Tenascin X (TNXB) |
Cardiac-valvular (cvEDS) | Type I Collagen (COL1A2) |
Kyphoscoliotic (kEDS) | Lysyl hydroxylase (PLOD1) |
Arthrochalasia (aEDS) | Type I Collagen (COL1A1, COL1A2) |
Dermatosparaxis (dEDS) | ADAMTS2 |
Brittle Cornea Syndrome (BCS) | ZNF469, PRDM5 |
Spondylodysplastic (spEDS) | SLC39A13, B4GALT6, B3GALT7 |
Musculocontractural (mcEDS) | D4ST1, DSE |
Myopathic (mEDS) | Type XII Collagen (COL12A1) |
Peridontal (pEDS) | C1R, C1S |
There is currently no cure for EDS, and it’s an autosomal dominant condition, so there's a 50% chance that offspring nearly always have EDS. In other words, if a condition is autosomal dominant, only one copy of the genetic variant is needed for the offspring to have the condition. If it's recessive, then two copies of the genetic variant need to exist for the offspring to have the condition or the offspring is only a carrier. Some solutions for pain are over-the-counter medications such as Tylenol and Advil.
People with this condition should avoid overextending or locking their joints, and physicians usually prescribe braces or wheelchairs to avoid dislocations. Non-weight-bearing sports are recommended. Sometimes, physicians prescribe surgery for joints and wounds, but they must be closely monitored so the stitches don't tear through fragile tissue. Children with EDS should be well educated about their condition as any sudden or uncommon moves of their body could cause them big trouble. Family members, friends, and teachers should be taught about the child's condition so they can accept and assist the child. Pregnancy can also cause problems with people who have vascular EDS and talking to a genetic counselor can help people understand how it affects their children.
Animals can also have EDS. For example, it is common in certain breeds of cattle, Himalayan cats, some domestic shorthair cat breeds, and English Springer Dogs. Animals with EDS shouldn't be bred, since the condition can be inherited. However, not much research has been performed on animals as compared to humans.
Ehlers-Danlos Syndrome (EDS) is a fascinating condition. It has a fascinating history and people should be informed about it along with the various types and subtypes so that we can help patients who have EDS in their day-to-day lives.
Sources:
“What Is EDS? - the Ehlers Danlos Society.” The Ehlers Danlos Society, 23 July 2024, www.ehlers-danlos.com/what-is-eds.
Wikipedia contributors. “Ehlers–Danlos Syndrome.” Wikipedia, 1 Aug. 2024, en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome.
“Ehlers-Danlos Syndrome - Symptoms and Causes - Mayo Clinic.” Mayo Clinic, 25 Aug. 2022, www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/symptoms-causes/syc-20362125.
Del Vecchio, Karen. “The History of Ehlers-Danlos Syndrome Research Is Fascinating.” Ehlers-Danlos News, 30 July 2020, ehlersdanlosnews.com/2020/08/04/history-eds-research-discoveries-doctors.
Parapia, Liakat A., and Carolyn Jackson. "Ehlers‐Danlos syndrome–a historical review." British journal of hematology 141.1 (2008): 32-35.
“Heritable Collagen Disorders: The Paradigm of the Ehlers—Danlos Syndrome.” Journal of Investigative Dermatology, vol. 132, Nov. 2012, www.jidonline.org/article/S0022-202X(15)61056-9/fulltext.
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