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Ehlers–Danlos syndrome
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Ehlers–Danlos syndrome
Ehlers–Danlos syndromes (EDS) are a group of 13 genetic connective tissue disorders. Symptoms often include loose joints, joint pain, stretchy, velvety skin, and abnormal scar formation. These may be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis. The existing classification was last updated in 2017, when a number of rarer forms of EDS were added.
EDS occurs due to mutations in one or more particular genes—there are 19 genes that can contribute to the condition. The specific gene affected determines the type of EDS, though the genetic causes of hypermobile Ehlers–Danlos syndrome (hEDS) are still unknown. Some cases result from a new variation occurring during early development. In contrast, others are inherited in an autosomal dominant or recessive manner. Typically, these variations result in defects in the structure or processing of the protein collagen or tenascin.
Diagnosis is often based on symptoms, particularly hEDS, but people may initially be misdiagnosed with somatic symptom disorder, depression, or myalgic encephalomyelitis/chronic fatigue syndrome. Genetic testing can be used to confirm all types of EDS except hEDS, for which a genetic marker has yet to be discovered.
A cure is not yet known, and treatment is supportive in nature. Physical therapy and bracing may help strengthen muscles and support joints. Several medications can help alleviate symptoms of EDS, such as pain and blood pressure drugs, which reduce joint pain and complications caused by blood vessel weakness. Some forms of EDS result in a normal life expectancy, but those that affect blood vessels generally decrease it. All forms of EDS can result in fatal outcomes for some patients.
While hEDS affects at least one in 5,000 people globally, other types occur at lower frequencies. The prognosis depends on the specific disorder. Excess mobility was first described by Hippocrates in 400 BC. The syndromes are named after two physicians, Edvard Ehlers and Henri-Alexandre Danlos, who described them at the turn of the 20th century.
In 2017, 13 subtypes of EDS were classified using specific diagnostic criteria. According to the Ehlers–Danlos Society, the syndromes can also be grouped by the symptoms determined by specific gene mutations. Group A disorders are those that affect primary collagen structure and processing. Group B disorders affect collagen folding and crosslinking. Group C includes disorders of the structure and function of the myomatrix. Group D disorders are those that affect glycosaminoglycan biosynthesis. Group E disorders are characterized by defects in the complement pathway. Group F are disorders of intracellular processes, and Group G is considered to be unresolved forms of EDS.
Classical EDS is characterized by extremely elastic skin that is fragile and bruises easily, and hypermobility of the joints. Molluscoid pseudotumors (calcified hematomas that occur over pressure points) and spheroids (cysts that contain fat occurring over forearms and shins) are also often seen. A side complication of the hyperelasticity presented in many EDS cases makes wound closure on its own more difficult. Sometimes, motor development is delayed and hypotonia occurs. The variation causing this type of EDS is in the genes COL5A2, COL5A1, and less frequently COL1A1. It involves the skin more than hEDS. In classical EDS, large variation in symptom presentation is seen. Because of this variance, EDS has often been underdiagnosed. Without genetic testing, healthcare professionals may be able to provide a provisional diagnosis based on careful examination of the mouth, skin, and bones, as well as by neurological assessment.
A good way to begin the diagnostic process is by reviewing a person's family history. EDS is an autosomal dominant condition, so it is often inherited from parents. Genetic testing remains the most reliable way to diagnose EDS. No cure for type 1 EDS has been found, but a course of non-weight-bearing exercise can help with muscular tension, which can help correct some EDS symptoms. Anti-inflammatory drugs and lifestyle changes can help with joint pain. Lifestyle choices should also be made with children who have EDS to try to prevent wounds to the skin. Protective garments can help with this. In a wound, deep stitches are often used and left in place for longer than normal.
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Ehlers–Danlos syndrome
Ehlers–Danlos syndromes (EDS) are a group of 13 genetic connective tissue disorders. Symptoms often include loose joints, joint pain, stretchy, velvety skin, and abnormal scar formation. These may be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis. The existing classification was last updated in 2017, when a number of rarer forms of EDS were added.
EDS occurs due to mutations in one or more particular genes—there are 19 genes that can contribute to the condition. The specific gene affected determines the type of EDS, though the genetic causes of hypermobile Ehlers–Danlos syndrome (hEDS) are still unknown. Some cases result from a new variation occurring during early development. In contrast, others are inherited in an autosomal dominant or recessive manner. Typically, these variations result in defects in the structure or processing of the protein collagen or tenascin.
Diagnosis is often based on symptoms, particularly hEDS, but people may initially be misdiagnosed with somatic symptom disorder, depression, or myalgic encephalomyelitis/chronic fatigue syndrome. Genetic testing can be used to confirm all types of EDS except hEDS, for which a genetic marker has yet to be discovered.
A cure is not yet known, and treatment is supportive in nature. Physical therapy and bracing may help strengthen muscles and support joints. Several medications can help alleviate symptoms of EDS, such as pain and blood pressure drugs, which reduce joint pain and complications caused by blood vessel weakness. Some forms of EDS result in a normal life expectancy, but those that affect blood vessels generally decrease it. All forms of EDS can result in fatal outcomes for some patients.
While hEDS affects at least one in 5,000 people globally, other types occur at lower frequencies. The prognosis depends on the specific disorder. Excess mobility was first described by Hippocrates in 400 BC. The syndromes are named after two physicians, Edvard Ehlers and Henri-Alexandre Danlos, who described them at the turn of the 20th century.
In 2017, 13 subtypes of EDS were classified using specific diagnostic criteria. According to the Ehlers–Danlos Society, the syndromes can also be grouped by the symptoms determined by specific gene mutations. Group A disorders are those that affect primary collagen structure and processing. Group B disorders affect collagen folding and crosslinking. Group C includes disorders of the structure and function of the myomatrix. Group D disorders are those that affect glycosaminoglycan biosynthesis. Group E disorders are characterized by defects in the complement pathway. Group F are disorders of intracellular processes, and Group G is considered to be unresolved forms of EDS.
Classical EDS is characterized by extremely elastic skin that is fragile and bruises easily, and hypermobility of the joints. Molluscoid pseudotumors (calcified hematomas that occur over pressure points) and spheroids (cysts that contain fat occurring over forearms and shins) are also often seen. A side complication of the hyperelasticity presented in many EDS cases makes wound closure on its own more difficult. Sometimes, motor development is delayed and hypotonia occurs. The variation causing this type of EDS is in the genes COL5A2, COL5A1, and less frequently COL1A1. It involves the skin more than hEDS. In classical EDS, large variation in symptom presentation is seen. Because of this variance, EDS has often been underdiagnosed. Without genetic testing, healthcare professionals may be able to provide a provisional diagnosis based on careful examination of the mouth, skin, and bones, as well as by neurological assessment.
A good way to begin the diagnostic process is by reviewing a person's family history. EDS is an autosomal dominant condition, so it is often inherited from parents. Genetic testing remains the most reliable way to diagnose EDS. No cure for type 1 EDS has been found, but a course of non-weight-bearing exercise can help with muscular tension, which can help correct some EDS symptoms. Anti-inflammatory drugs and lifestyle changes can help with joint pain. Lifestyle choices should also be made with children who have EDS to try to prevent wounds to the skin. Protective garments can help with this. In a wound, deep stitches are often used and left in place for longer than normal.