Ehlers-Danlos syndromes ( EDS ) are a group of genetic connective tissue abnormalities. Symptoms may include loose joints, stretchy skin, and the formation of abnormal scars. This can be observed at birth or in early childhood. Complications may include aortic dissection, joint dislocation, scoliosis, chronic pain, or early osteoarthritis.
EDS is caused by mutations in one of more than a dozen different genes. Specific genes affected determine specific EDS. Some cases result from new mutations that occur during early development while others are inherited autosomal dominant or recessive. This results in defects in the structure or processing of collagen. Diagnosis can be confirmed by genetic testing or skin biopsy. People can be misdiagnosed with hypochondriasis, depression, or chronic fatigue syndrome.
There is no known cure. Treatment is supportive. Physical and strengthening therapy can help strengthen muscles and support joints. While some disorders produce a normal life expectancy, those affecting the blood vessels generally produce shorter life spans.
EDS affects about 1 in 5,000 people globally. The prognosis depends on the specific disorder. Excess mobility was first described by Hippocrates in 400 BC. This syndrome is named after two doctors, Edvard Ehlers of Denmark and Henri-Alexandre Danlos of France, who described them at the turn of the 20th century.
Video Ehlers-Danlos syndromes
Signs and symptoms
Signs vary greatly depending on the specific EDS that the person has. This group of disorders affects the connective tissue, most commonly in joints, skin, and blood vessels and causes effects ranging from loose joints to life-threatening complications. The main signs and symptoms include:
Musculoskeletal
- Hyperflexible connection (Very likely to be very flexible or "double joint", but this is not the same as EDS.)
- Unstable joints that are vulnerable to sprain, dislocation, subluxation, and hyperextension
- Thoracic outlet syndrome
- Early onset of advanced osteoarthritis
- Chronic degenerative joint disease
- Swan neck deformity
- Boutonniere finger deformities
- Tear of the tendon or muscle
- Spinal deformities, such as scoliosis (spinal curvature), kyphosis (thoracic thorax), delayed spinal cord syndrome, and occipitoatlantoaxial hypermobility
- Myalgia (muscle aches) and arthralgia (joint pain), which may be severe
- Trendelenburg Signs
- Osgood-Schlatter's Disease
- In infants, walking is delayed (over the age of 18 months), and in a hurry instead of crawling.
Skin
- Fragile skin that is easily torn
- "Atrophy" cigarette burns
- Easy bruising
- Excess skin folds
- Molluscoid pseudotumors, especially at pressure points
- Petechia
- Subcutaneous Spheroid
- Livedo reticularis
- Piezogenic papules
Cardiovascular
- Artery rupture
- Heart valve disease, such as mitral valve prolapse, creates increased risk for infective endocarditis during surgery. This can continue to life-threatening levels. Cardiac conduction abnormalities have been found in those with EDS hypermobility.
- Widening and/or rupture (aneurysm) from ascending aorta
- Postural orthostatic tachycardia syndrome
- Raynaud's phenomenon
- Varicose veins
- Heart murmur
- Heart conduction abnormalities
Other manifestations
- Decorate the hernia
- Gastroesophageal reflux
- Gastrointestinal dismotility
- Dysautonomia
- Gorlin sign (touch tongue to nose)
- Anal probes
- Lung collapse (spontaneous pneumothorax)
- Neurological disorders (carpal tunnel syndrome, acroparesthesia, neuropathy, including small fiber neuropathy)
- Not sensitive to local anesthesia.
- Arnold-Chiari Malformation
- Failure of platelet aggregation (platelets do not coagulate properly)
- Pregnancy complications: increased pain, mild to moderate peripartum hemorrhage, cervical insufficiency, uterine rupture, or premature rupture of membranes.
- Cranial vertebral instability: caused by trauma (s) to the head and neck like a concussion and whiplash. Ligaments in the neck can not heal well, therefore, the neck structure does not have the ability to support the skull, which can then sink into the brainstem blocking the normal flow of cerebral spinal fluid, leading to problems related to the autonomic nervous system failing to function correctly.
- Celiac disease: may be associated with EDS. Also, it can be misdiagnosed as EDS because of the common symptoms that may appear in both diseases, including fatigue, pain, gastrointestinal complaints, or cardiovascular autonomic dysfunction.
- Fibromyalgia
Because it is often undiagnosed or misdiagnosed in childhood, some examples of Ehlers-Danlos syndrome have been misinterpreted as child abuse.
Pain associated with the disorder may be severe.
Maps Ehlers-Danlos syndromes
Genetics
Only a few Ehlers-Danlos syndrome can be positively identified as associated with certain genetic variations.
Mutations in the following genes can cause Ehlers-Danlos syndrome:
- Fibrous protein: COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, and TNXB
- Enzymes: ADAMTS2, PLOD1, B4GALT7, DSE, and D4ST1/CHST14
Mutations in these genes typically alter the structure, production, or processing of collagen or proteins that interact with collagen. Collagen provides the structure and strength for connective tissue. Defects in collagen can weaken connective tissue in the skin, bones, blood vessels, and organs, resulting in disturbing features.
The pattern of inheritance depends on the specific Ehlers-Danlos syndrome. Most forms of Ehlers-Danlos syndrome are inherited in an autosomal dominant pattern, which means that only one of the two copies of the gene concerned has to be altered to cause the disorder. Minorities are inherited in an autosomal recessive pattern, which means both copies of the gene must be changed in order for a person to be affected. It can also be an individual mutation (de novo or "sporadic"). See a summary for each Ehlers-Danlos syndrome for a discussion of the pattern of inheritance.
Diagnosis
Diagnosis may be made by evaluation of medical history and clinical observation. Beighton criteria are widely used to assess joint hypermobility rates. DNA and biochemical studies can help identify affected individuals. Diagnostic tests include testing of collagen gene mutations, typing collagen through skin biopsy, echocardiogram, and lysyl hydroxylase or oxidase activity. However, this test can not confirm all cases, especially in the case of unmapped mutations, so clinical evaluation by geneticists remains important. If there are some individuals affected in the family, it is possible to perform a prenatal diagnosis using DNA information techniques known as linkage studies. There is poor knowledge about EDS among practitioners.
Classification
By 2017, 13 Ehlers-Danlos syndromes have been marked, with significant overlap in features.
Hypermobile EDS (hEDS) is characterized primarily by joint hypermobility affecting large and small joints, which can lead to recurrent joint dislocation and subluxation (partial dislocations). In general, people with this type have soft, smooth, soft skin with easy bruising and chronic pain in muscles and/or bones.
Classic EDS - relates to very elastic, soft, delicate, bruised skin; broad, atrophic scars (flat or depressed scars); and joint hypermobility. Molluscoid pseudotumors (calcified hematoma above pressure points such as elbows) and spheroids (cysts containing fat in the forearms and shins) are also commonly seen. Hypotonia and delayed motor development may occur.
Vascular EDS - is characterized by a thin, translucent, brittle looking skin. Arteries and certain organs such as the intestine and uterus are also fragile and susceptible to rupture. People with this type are usually short stature; thin scalp hair; and distinctive facial features including large eyes, thin nose, and lobeless ears. Hypermobility of the joints is present, but is generally confined to small joints (fingers, toes). Other common features include club legs; tendon and/or muscle rupture; acrogeria (premature aging of the skin of the hands and feet); early onset of varicose veins; pneumothorax (pulmonary collapse); gum recession; and a decrease in the amount of fat under the skin.
EDS Kyphoscoliosis - associated with severe hypotonia at birth, delayed motor development, progressive scoliosis (present at birth), and scleral brittleness. The affected person may also get bruised easily; fragile fragile arteries; the cornea is unbelievably small; and osteopenia (low bone density). Other common features include "habitus marfanoid" characterized by long and slender fingers (arachnodactyly); extraordinarily long limbs; and a concave chest (pectus excavatum) or a prominent chest (pectus carinatum).
Arthrochalasia EDS - characterized by severe joint hypermobility and congenital pelvic dislocation. Other common features include brittle and elastic skin with easy bruising; hypotonia; kyphoscoliosis (kyphosis and scoliosis); and mild osteopenia.
Dermatosparaxis EDS - is associated with very delicate skin that causes severe bruising and scarring; skin sag, excessive, especially in the face; and hernias.
Broken Corneal Syndrome (BCS) is characterized by a thin cornea, early progressive keratoglobus; and blue sclerae.
classical EDS such as (clEDS) characterized by skin hyperextendibility with subtle skin texture and absence of atrophic scarring, general joint hypermobility (GJH) with or without recurrent dislocations (most commonly shoulders and ankles) and easy bruising of the skin or spontaneous ecchymoses (discoloration of the skin resulting from bleeding underneath).
EDS Spondylodysplastic (spEDS) is characterized by short stature (progressive in childhood), muscle hypotonia (starting from severe congenital, to mild late onset), and bending to the limbs.
EDS Musculocontractural (mcEDS) is characterized by congenital multiple contractures, contractile-swelling contrainduction and/or talipes equinovarus (clubfoot), craniofacial features, obvious at birth or in early infancy, and skin features such as skin hyperexensibility, easy bruising, skin fragility with atrophic scars, increased palmar wrinkles.
Myopathic EDS (mEDS) is characterized by congenital muscular hypotonia, and/or muscular atrophy, which increases with age, proximal joint contractures (knee, hip and elbow joints); and hypermobility of the distal joint (ankle, wrist, leg and hand joints).
EDS periodontal (pEDS) is characterized by severe periodontitis and difficult to deal with in early onset (childhood or adolescence), a lack of inherent gingiva, pretibial plaque; and family history of a first-degree relative who meet clinical criteria.
Cardiac-valvular EDS (cvEDS) is characterized by progressive cardiac-valvular problems (aortic valve, mitral valve), skin problems (hyperexensibility, atrophic scar, thin skin, bruising) and joint hypermobility or limited to small joints).
Differential diagnosis
Some disorders have some characteristics with EDS. For example, on the laxa cutis the skin is loose, dangling, and wrinkled. In EDS, the skin can be pulled away from the body but elastic and returns to normal when released. In Marfan syndrome, joints are highly mobile and similar cardiovascular complications occur. People with EDS tend to have the appearance of "Marfanoid" (eg, tall, thin, long arms and legs, "spidery" fingers). However, physical appearance and features in some EDS also have characteristics including short stature, large eyes, and the appearance of small mouth and chin, due to the small ceiling. The ceiling can have high curves, causing the teeth to wrinkle. Blood vessels can sometimes be easily seen through translucent skin, especially in the chest. The genetic connective tissue disorder, Loeys-Dietz Syndrome, also has symptoms that overlap with EDS.
In the past, Menkes disease, copper metabolism disorder, considered as EDS. It is not uncommon for patients to be misdiagnosed with fibromyalgia, bleeding disorders or other disorders that may mimic the symptoms of EDS. Because of similar disorders and complications that can arise from an unattended EDS case, the correct diagnosis is important. Pseudoxanthoma elasticum (PXE) should be considered in the diagnosis.
Management
There is no known cure for Ehlers-Danlos syndrome. His treatment is supportive. Close monitoring of the cardiovascular system, physiotherapy, occupational therapy, and orthopedic instruments (eg, wheelchairs, buffers, casting) can help. This can help stabilize the joints and prevent injury. Orthopedic instruments are helpful for the prevention of further joint damage, especially for long distance, although it is recommended that individuals not become dependent on them until other mobility options have been exhausted. Patients should avoid activities that cause the joint to lock or overextend.
A doctor can prescribe a foundry to stabilize the joints. The doctor may refer the patient to the orthotist for orthotic treatment (corroborating). Doctors can also consult with physical and/or occupational therapists to help strengthen muscles and to teach people how to use and maintain their joints properly.
Aquatic therapy enhances muscle development and coordination. With manual therapy, joints are gently mobilized in range of motion and/or manipulation. If conservative therapy is not helpful, surgical repair of the joint may be necessary. Medications to reduce pain or manage heart, digestion, or other associated conditions may be prescribed. To reduce bruising and improve wound healing, some patients have responded to vitamin C. Special precautions are often taken by medical care workers because of the many complications that tend to arise in EDS patients. In vascular EDS, signs of chest or abdominal pain are considered a traumatic situation.
In general, medical intervention is limited to symptomatic therapy. Before pregnancy, patients with EDS should have genetic counseling and familiarize themselves with the risks to their own bodies that go through pregnancy. Children with EDS should be given information about their disorder so they can understand why they should avoid contact sports and other physical stressful activities. Children should be taught that they demonstrate unusual positions that they can maintain because loose joints should not be performed because this can lead to early joint degeneration. Emotional support along with behavioral and psychological therapy can be useful. Support groups can greatly assist patients facing major lifestyle changes and poor health. Family members, teachers, and friends should be informed about EDS so they can receive and help the child.
Surgery
Joint instability, leading to (sub) relaxation and joint pain, often requires surgical intervention in people with Ehlers-Danlos syndrome. Instability of almost all joints can occur but most often occurs in the lower and upper extremities, with the most common wrists, fingers, shoulders, knees, hips and ankles.
Common surgical procedures are joint debridement, tendon replacement, capsulorraphy, and arthroplasty. Studies have shown that after surgery, the degree of stabilization, pain reduction, and patient satisfaction may increase, but surgery does not guarantee optimal results: Patients and surgeons report dissatisfied with the outcome. The consensus is that conservative treatment is more effective than surgery, especially since the patient has the risk of additional surgical complications due to the disease. Three basic surgical problems arise because of EDS: decreased network strength, which makes the network less suitable for surgery; the fragility of blood vessels can cause problems during surgery; and wound healing is often delayed or incomplete. If considering surgical intervention, it would be wise to seek treatment from a surgeon with extensive knowledge and experience in treating people with EDS and joint hypermobility issues.
Studies have shown that local anesthesia, central arterial catheter and central venous catheter cause a higher risk of hematoma formation in people with Ehlers-Danlos syndrome. People with Ehlers-Danlos syndrome also exhibit resistance to local anesthesia. Resistance to xylocaine and bupivacaine is not uncommon, and carbocaine tends to work better in people with EDS. Specific recommendations for anesthesia in people with EDS are prepared by orphananesthesia and address all aspects of anesthesia for people with EDS. Detailed recommendations for anesthesia and perioperative care of people with EDS should be used to improve safety.
Surgery in people with Ehlers-Danlos syndrome requires careful tissue handling and longer immobilization thereafter.
Prognosis
Prospects for individuals with EDS depend on the specific EDS they have. Symptoms vary in severity, even in the same disorder, and the frequency of complications varies. Some people have symptoms that can be ignored while others are very limited in everyday life. Extreme joint instability, chronic musculoskeletal pain, degenerative joint disease, frequent injuries and spinal defects may limit mobility. Severe spinal deformity can affect breathing. In the case of extreme joint instability, dislocations can occur due to simple tasks such as rolling over on the bed or turning the doorknob. Secondary conditions such as autonomic dysfunction or cardiovascular problems, occur in any type, may affect the prognosis and quality of life. Defects associated with severe mobility are seen more frequently in hypermobile EDS than in classical EDS or vascular EDS.
Although all EDS is potentially life-threatening, the majority of patients have a normal lifespan. However, those with fragile blood vessels have a high risk of fatal complications, including spontaneous arterial rupture, which is the most common cause of sudden death. Median life expectancy in populations with vascular EDS is 48 years.
Epidemiology
Ehlers-Danlos syndrome is a congenital abnormality that is thought to occur in about 1 in 5,000 births worldwide. Initially, the prevalence estimates range from 1 in 250,000 to 1 in 500,000 people, but these estimates soon found to be too low because of the disruption of receiving further studies and medical professionals becoming more adept at diagnosis. Ehlers-Danlos syndrome may be much more common than the currently accepted estimates due to the various severity with present disorders.
The prevalence of 13 disorders differs dramatically. The most common is EDS hipermobile, followed by classical EDS. Ehlers-Danlos syndrome is very rare. For example, fewer than ten infants and children with EDS dermatosparaxis have been described worldwide. Some Ehlers-Danlos syndrome is more common in Ashkenazi Jews. For example, the possibility of becoming a carrier for dermatosparaxis EDS is 1 in 248 in Ashkenazi Jews, whereas the prevalence of this mutation in the general population is 1 in 2,000.
Society and culture
- In the nineteenth century, there were several spectacle players billed as The Elastic Skin Man, The Indian Rubber Man and Frog Boy. They include famous people (at their time) like Felix Wehrle, James Morris, and Avery Childs.
- Some celebrities now have EDS:
- Actress Cherylee Houston has an EDS hypermobile and uses a wheelchair; she was the first full-fledged actress at Coronation Street .
- EDS may have contributed to the virtuoso violinist NiccolÃÆ'² Paganini's skills because he can play a fingering wider than a normal violinist.
- The science blogger Yvette d'Entremont aka Babe Science has Ehlers-Danlos syndrome.
- Mandy Morbid's adult film star has discussed the impact of EDS on mobility and life.
- Rei Haycraft, lead singer for hard rock band Raimee, artist, and illustrator, has made songs and documentaries about life with Ehlers-Danlos syndrome, as well as written songs about its impact on his life.
- American disability rights activist Annie Segarra has EDS, and talks about conditions on her Annie Elainey YouTube channel.
- Eric "The Actor" Lynch, frequent caller to The Howard Stern Show, has EDS arthrochalasia, which results in his finger being destroyed.
- Singer Mandy Harvey gradually loses his hearing due to interference; by the time he was 19, he was legally deaf. Ten years later, at the age of 29, he competed in America's Got Talent, season 12, ending in 4th place.
- Conditions have been mentioned on many television shows, including:
- The premier subject of Season 8 series A & amp; E Intervention , Linda, claimed to have EDS.
- In season 13, episode 4 of the Gray Anatomy patient was diagnosed with EDS.
Other species
Ehlers-Danlos-like syndrome has been shown to be hereditary in Himalayan cats, some domestic shorthair cats, and in certain types of livestock. It is seen as a sporadic condition in domestic dogs.
- Animal EDS
Degenerative suspensory desmitis ligament (DSLD) is a similar condition seen in many horse races. It was originally denoted in Paso Peru and considered to be excessive working conditions and older ages. However, the disease is recognized in all age groups and all levels of activity. It has even been noted on newborns. Recent research has led to renaming the disease as a systemic proteoglycan accumulation, after the possibility of systemic and hereditary components described by the University of Georgia.
References
External links
- Ehlers-Danlos syndromes in Curlie (based on DMOZ)
Source of the article : Wikipedia
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