Ehlers–Danlos syndrome
Ehlers-Danlos syndromes can turn ordinary movements into injuries. In people with extreme joint instability, a dislocation may follow something as small as rolling over in bed or turning a doorknob. The name covers a group of 13 genetic connective tissue disorders. Connective tissue is found throughout the body, so the effects reach far beyond the joints. Two physicians, Edvard Ehlers and Henri-Alexandre Danlos, described the syndromes at the turn of the 20th century. The underlying trait is much older, because Hippocrates described excess mobility in 400 BC. This documentary asks why one condition can produce velvety skin in one person and life-threatening artery damage in another. It asks what goes wrong in the genes and proteins behind it. And it asks why getting a correct diagnosis so often begins with the wrong answer.
In 2017, specialists sorted the syndromes into 13 subtypes, each with its own diagnostic criteria. That update added a number of rarer forms to the list. The system has been rewritten before. Until 1997, the classification recognized ten specific types and admitted that others existed. An overhaul then cut it to six major types with descriptive names. Genetic specialists accept that further types exist but have been documented only in single families.
Older numbering still lingers in the descriptions. Hypermobile EDS, formerly type 3, is the most common of the 13. It mainly affects both large and small joints and can cause frequent subluxations, which are partial dislocations. The skin is soft, smooth and velvety, and it is affected less than in other forms. No genetic test exists for this type, so providers diagnose it from clinical criteria.
Classical EDS shows a different face. Its skin is extremely elastic, fragile and quick to bruise. Calcified hematomas called molluscoid pseudotumors form over pressure points, and fat-filled cysts called spheroids appear on the forearms and shins. Wounds are harder to close, so deep stitches are often used and left in place longer than normal.
Some types are so rare that their known cases can be counted. Arthrochalasia EDS, formerly types 7A and 7B, has about 30 reported cases and brings severe joint hypermobility with congenital hip dislocation. Dermatosparaxis EDS, formerly type 7C, has around 11 cases reported worldwide. Its hallmarks are extremely fragile, saggy skin, especially on the face, and hernias. As of 2021-48 people had been reported with one genetic form of musculocontractural EDS and 8 with another.
Other types reach into unexpected places. Brittle-cornea syndrome thins the cornea progressively and can bring nearsightedness, hearing loss and blue sclerae. Kyphoscoliosis EDS, formerly type 6, causes severe low muscle tone at birth and scoliosis present from birth. Periodontal EDS causes severe gum disease beginning in childhood or adolescence. Cardiac-valvular EDS damages the aortic and mitral valves. Myopathic EDS is now called Bethlem myopathy 2 and involves low muscle tone or wasting from birth that improves with age. One further type sits apart from all of these because of what it does to the blood vessels.
Nineteen genes can contribute to Ehlers-Danlos syndromes, and the gene affected decides which type a person has. Most of them change how the body builds or processes collagen, or proteins that interact with it. Collagen gives connective tissue its structure and strength. When it is defective, the skin, bones, blood vessels and organs can all weaken. In some cases the protein at fault is tenascin instead.
The Ehlers-Danlos Society groups the genes into seven categories, labeled A through G. Group A covers primary collagen structure and processing, with genes such as COL1A1, COL3A1 and COL5A1. Group B covers collagen folding and cross-linking, including PLOD1 and FKBP14. Group C concerns the structure and function of the myomatrix, and Group D concerns the making of glycosaminoglycans. Group E involves the complement pathway, and Group F involves processes inside cells. Group G holds forms that remain unresolved.
The hypermobile type is the great exception. It affects the vast majority of people with EDS, yet its genetic causes are still unknown. Every other type can be tied to specific genetic variation. Researchers continue to look for genetic markers for all types.
Inheritance follows several patterns. Most forms are autosomal dominant, meaning that altering just one of the two copies of a gene is enough. A few are autosomal recessive, meaning both copies must be altered. Classical-like EDS, for example, comes from recessive variations in the TNXB gene. Cardiac-valvular EDS arises from variation in both copies of COL1A2. Some cases are new variations that appear during early development, described as de novo or sporadic, with no inheritance at all.
Ancestry can shift the odds. The chance of being a carrier for dermatosparaxis EDS is one in 2,000 in the general population. Among Ashkenazi Jews it is one in 248. Knowing the gene is one matter; seeing what it does to a body is another.
A child with EDS may be slow to walk. Walking can be delayed beyond 18 months of age, and some infants shuffle on their bottoms instead of crawling. Later, the joints turn out to be unstable and prone to sprain, dislocation, subluxation and hyperextension. Repeated tissue injury can bring early, advanced osteoarthritis and finger deformities known as swan-neck and Boutonniere. Lax tendons and ligaments give little protection against tears in muscles and tendons.
The spine is often involved. Scoliosis, kyphosis (a thoracic hump), tethered spinal cord syndrome and instability at the top of the spine can all occur. Osteoporosis and osteopenia are also associated with the syndromes. Severe spinal deformities may even affect breathing.
Doctors look for particular signs. In Trendelenburg's sign, the pelvis drops on the opposite side when the person stands on one leg. Osgood-Schlatter disease, a painful lump on the knee, is common too. Muscle pain and joint pain can be severe and disabling, and the pain overall ranges from mild to debilitating.
Some scars from EDS resemble cigarette paper. These atrophic scars can appear even in people whose skin looks otherwise normal. The skin itself may be stretchy or, in other types, simply velvet soft. Some fragility appears in every type, though the degree varies, and the skin may tear and bruise easily. Redundant skin folds, especially on the eyelids, occur in some subtypes but not in the hypermobile one. Petechiae, livedo reticularis and piezogenic papules are among the other skin findings. Connective tissue also lies inside the heart, gut and head, and that is where the next effects appear.
A study published in 2013 found that patients with EDS were more likely to also be diagnosed with postural orthostatic tachycardia syndrome, known as POTS. Some research suggests that dysautonomia, a malfunction of the autonomic nervous system, is the main culprit behind most cardiac symptoms, rather than structural abnormalities. Palpitations, near-fainting, fainting, heat intolerance and trouble managing blood pressure and heart rate can all follow. Weak connective tissue can also affect the heart valves. Mitral valve prolapse, mitral regurgitation and aortic root dilation are found more often in people with EDS. Valve disease raises the risk of infective endocarditis during surgery.
The digestive tract is affected too. Eosinophilic esophagitis, an inflammatory condition marked by allergic-type reactions to foods and chemicals, is eight times more likely in people with connective tissue disorders. Crohn's disease, ulcerative colitis and celiac disease are also more common in EDS patients than in control groups. The link does not run backward, because people with an inflammatory bowel disorder are not necessarily likely to develop a connective tissue disorder. Slow movement through the gut is common, including delayed gastric emptying and delayed colonic transit. Abdominal pain, bloating, nausea, reflux and bowel trouble can result. Laxity in certain ligaments can lead to hiatal hernia.
The head and neck bring their own problems. Chronic headaches are common, and Arnold-Chiari malformation is found more often because of instability where the skull meets the spine. Neck ligaments that cannot heal properly may fail to support the skull. The skull can then sink toward the brainstem and block the flow of cerebrospinal fluid. Eye problems include nearsightedness, retinal detachment, keratoconus and cataracts. Hearing loss is common, most often in both ears.
There is also some evidence of higher-than-expected rates of ADHD, autism spectrum conditions and Tourette syndrome. The same is true for anxiety and mood disorders. In women, weakened tissue can cause pelvic organ prolapse, and heavy or painful periods are often mistaken for endometriosis. In one form of the disorder, though, the heart and vessels are not a side effect but the defining feature.
Blood vessels can sometimes be seen through the translucent skin of people with vascular EDS, especially on the chest. This form, formerly type 4, is identified by skin that is thin, extremely fragile and quick to bruise. Blood vessels and organs can rupture easily. Affected people are frequently short and have thin scalp hair. Characteristic facial features include large eyes, an undersized chin, sunken cheeks, a thin nose and lips, and ears without lobes. Joint hypermobility is usually confined to the small joints of the fingers and toes. Variations in the COL3A1 gene cause it, and rarely COL1A1 variations do.
Other features of the vascular type are dramatic. Tendons and muscles can rupture, and a lung can collapse in a pneumothorax. Acrogeria is premature aging of the skin of the hands and feet. Early-onset varicose veins and receding gums are also seen. Because the danger is so high, chest or abdominal pain in a person with vascular EDS is treated as a trauma situation. An aortic dissection demands surgery.
The numbers are stark. The median life expectancy in vascular EDS is 48 years. Spontaneous arterial rupture is the most common cause of sudden death. A 50% risk of colonic perforation exists in this type. Pregnancy increases the likelihood of uterine rupture, and maternal mortality is around 12%.
Most people with other types have a normal lifespan. Even so, all forms can prove fatal for some patients. Outcomes depend on the type, and symptoms vary in severity even within the same disorder. Some people have negligible symptoms, while others are severely restricted in daily life. Reaching an accurate diagnosis for any type is rarely simple.
The Beighton score measures joint hypermobility, and it anchors the 2017 diagnostic criteria for the hypermobile type. The first criterion is generalized joint hypermobility on that score. The second requires two of three features. One is a set of signs of different connective tissue structure, such as soft or velvety skin, hernias, a high or narrow palate, an arm span-to-height ratio of 1.05 or more, or mild or greater mitral valve prolapse. Another is a positive family history. The third is proof that symptoms interfere with daily life, such as daily pain in two or more limbs for at least 3 months. The third criterion is the exclusion of all other connective tissue disorders.
The road to those criteria is often rough. People may first be told they have somatic symptom disorder, depression, or myalgic encephalomyelitis/chronic fatigue syndrome. Fibromyalgia and bleeding disorders are other common misdiagnoses. Some childhood cases have been mischaracterized as child abuse, and pain has been mistaken for a behavior disorder or Munchausen by proxy. Knowledge of EDS among practitioners is poor. Early prevalence estimates ranged from one in 250,000 to 500,000 people, but better diagnosis showed those figures were low. The current estimate is about one in 5,000 births worldwide.
Similar disorders complicate the picture. In cutis laxa, the skin hangs loose and wrinkled. In EDS, skin can be pulled away from the body, yet it is elastic and returns to normal. Marfan syndrome and Loeys-Dietz syndrome share some overlapping signs. Menkes disease, a copper metabolism disorder, was once thought to be a form of EDS. Genetic testing can confirm every type except the hypermobile one.
No cure is known, and treatment is supportive. Physiotherapy, occupational therapy, bracing and casting can stabilize joints. Aquatic therapy promotes muscle development and coordination. Stretching must be slow and gentle to avoid dislocations. After a dislocation, a sling is advised, but orthopedic casts are not, because muscles may still spasm against them. Some people have responded to vitamin C for bruising and wound healing. Pain management is considered insufficient, and it requires a multidisciplinary team.
Medication needs care. Long-term use of NSAIDs risks stomach, kidney and blood-related side effects. Acetaminophen avoids the bleeding-related ones. Lidocaine can be applied to painful gums or injected into painful areas. Surgery is often needed for unstable joints, but the consensus is that conservative treatment works better. Tissues are weakened, vessels are fragile, and wound healing is often delayed or incomplete. Some people resist lidocaine and bupivacaine, and mepivacaine tends to work better. Children with EDS should avoid contact sports and be taught not to show off the unusual positions their joints allow.
Niccolò Paganini, the virtuoso violinist, may owe part of his skill to EDS. He could play wider fingerings than a typical violinist. Many sideshow performers have had the condition. They were billed as the Elastic Skin Man, the India Rubber Man and Frog Boy. Well-known examples in their time included Felix Wehrle, James Morris and Avery Childs.
Two performers with EDS hold world records today. Contortionist Daniel Browning Smith, who has hypermobile EDS, holds the Guinness World Record for the most flexible man as of 2018. Gary "Stretch" Turner of the Circus of Horrors has held the Guinness record for the most elastic skin since 1999. He can stretch the skin on his stomach 6.25 inches.
Many public figures have spoken about the condition. Actress Cherylee Houston, who uses a wheelchair, was the first full-time disabled actress on Coronation Street. Yvie Oddly won the 11th season of RuPaul's Drag Race. Jameela Jamil, Lena Dunham, Sia and Halsey are also named among notable cases. So are Miss America 2020 Camille Schrier and deaf singer-songwriter Mandy Harvey. Others have died of the disorder. Trevor Jones died of the vascular form, and Rommy Hunt Revson, who created the scrunchie, died of a ruptured aorta.
Fiction has begun to reflect it as well. In the fantasy novel Fourth Wing, the main character Violet Sorrengail has an unnamed chronic condition that closely matches EDS. Author Rebecca Yarros has EDS and says it goes unnamed because of the level of medical knowledge in her story's world. Grey's Anatomy took up the topic in its 13th season. In the episode "Falling Slowly," doctors confused by a patient's contradicting symptoms finally diagnose EDS. The script drew on conversations that producers held with a patient and a doctor who have EDS.
Animals can have similar conditions. Ehlers-Danlos-like syndromes are hereditary in Himalayan cats, some domestic shorthair cats and certain breeds of cattle. In dogs they appear sporadically, most often in English Springers. In horses, a related condition called degenerative suspensory ligament desmitis was first noted in the Peruvian Paso and has since been seen in newborn foals.
Updated
Common questions
What is Ehlers-Danlos syndrome?
Ehlers-Danlos syndromes are a group of 13 genetic connective tissue disorders. Symptoms often include loose joints, joint pain, stretchy or velvety skin and abnormal scar formation.
What causes Ehlers-Danlos syndrome?
Mutations in one or more of 19 genes cause Ehlers-Danlos syndrome, and the gene affected determines the type. The variations usually alter the structure, production or processing of collagen or tenascin. The genetic cause of the hypermobile type is still unknown.
How is Ehlers-Danlos syndrome diagnosed?
Diagnosis rests on medical history, clinical observation and, for most types, genetic testing. The hypermobile type has no genetic test, so it is diagnosed using 2017 criteria that include the Beighton score for joint hypermobility.
Is there a cure for Ehlers-Danlos syndrome?
No cure for Ehlers-Danlos syndrome is known, and treatment is supportive. Physical therapy, bracing, pain medication and monitoring of the cardiovascular system help stabilize joints and reduce complications.
What is the life expectancy with Ehlers-Danlos syndrome?
Most people with Ehlers-Danlos syndrome have a normal lifespan, but vascular EDS carries a median life expectancy of 48 years. Spontaneous arterial rupture is the most common cause of sudden death in that type.
How common is Ehlers-Danlos syndrome?
Ehlers-Danlos syndromes are estimated to occur in about one in 5,000 births worldwide. Hypermobile EDS is the most common type, followed by classical EDS, and the other types are very rare.
Who discovered Ehlers-Danlos syndrome and where does the name come from?
The syndromes are named after physicians Edvard Ehlers and Henri-Alexandre Danlos, who described them at the turn of the 20th century. Excess mobility was first described by Hippocrates in 400 BC.
All sources
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