Ehlers-danlos Syndrome: Causes, Symptoms, Diagnosis, Treatment, and Prevention
The Ehlers-danlos syndrome (EDS) is a family of inherited disorders affecting the connective tissue of the body. It is common for people with EDS to have overly flexible joints and fragile skin, as well as stretchy, fragile bones, blood vessels, and other organs. There can be complications in blood vessels, intestines, or the uterus as a result of this condition. Each type of EDS has its own genetic cause and specific symptoms.
Causes of EDS
It is caused by variations in genes that affect the structure and function of collagen and related proteins. Collagen is a major component of connective tissue that maintains its integrity and elasticity. Variations may result in defects in the production, processing, or cross-linking of collagen molecules, depending on the type of EDS. A person with EDS can inherit the condition from one or both parents, while others may occur as a result of a mutation during their early years.
Symptoms of EDS
The symptoms of EDS vary depending on the type and severity of the disorder. However, some common signs and symptoms include:
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Overly flexible joints that can move far past the normal range of motion. This can lead to joint pain, dislocations, and early-onset arthritis.
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Stretchy and fragile skin that bruises easily and tears or splits with minor injuries. The skin may also feel soft and velvety and have abnormal scars that widen over time.
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Problems with blood vessels, such as easy bleeding, aneurysms, or ruptures. This can affect the heart, lungs, brain, kidneys, or other organs and cause life-threatening complications.
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Problems with internal organs, such as hernias, organ prolapse, or rupture of the intestines or uterus. This can cause severe pain, bleeding, infection, or shock.
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Other symptoms may include muscle pain, fatigue, dizziness, digestive issues, urinary incontinence, dental problems, eye problems, or abnormal facial features.
Diagnosis of EDS
The diagnosis of EDS is based on a combination of physical examination and genetic testing. A physical examination may include checking the skin for elasticity and fragility, the joints for hypermobility and instability, and the blood vessels for signs of weakness or damage. A blood sample may be taken to test for specific gene variations associated with certain types of EDS. A skin biopsy may be performed under a microscope to examine the collagen structure.
Treatment of EDS
There is no cure for EDS and treatment is mainly supportive and aimed at managing symptoms and preventing complications. Some possible treatment options include:
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Medications to relieve pain, inflammation, or bleeding. These may include over-the-counter or prescription analgesics (such as acetaminophen), nonsteroidal anti-inflammatory drugs (such as ibuprofen), antihypertensive drugs (such as midodrine), or blood clotting agents (such as tranexamic acid).
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Physical therapy to strengthen muscles and stabilize joints. This may include exercises to improve posture, balance, coordination, and flexibility. Braces or splints may also be used to support weak or unstable joints.
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Surgery to repair damaged or dislocated joints, blood vessels, or organs. This may require special techniques or materials to avoid further injury to the connective tissue.
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Lifestyle modifications to avoid activities or factors that may worsen symptoms or trigger complications. These may include avoiding contact sports, heavy lifting, smoking, sun exposure, or certain medications.
Prevention of EDS
Despite the fact that EDS is a genetic disorder, some steps can be taken to reduce the risk of complications or improve the quality of life of people with the disorder. These steps include:
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Watching for signs of complications and seeking regular medical care. As part of this, you may need to see a rheumatologist (for joint problems), a cardiologist (for heart problems), a gastroenterologist (for digestive problems), or a geneticist (for genetic counseling).
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You should follow the treatment plan prescribed by your health care provider. This may include taking medication as directed, following physical therapy recommendations, wearing braces or splints if necessary, or undergoing surgery.
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EDS and its implications need to be educated to oneself and others. Support groups can be found online or in person (such as The Ehlers-Danlos Society), information can be shared with family or friends who may also suffer from EDS, or community awareness can be raised about EDS.
With proper diagnosis, treatment, and support, people with EDS can lead fulfilling and productive lives.
