Your connective tissue is impacted by the inherited disease known as Ehlers-Danlos syndrome (EDS). This tissue supports your skin, tendons, ligaments, blood vessels, and internal organs.
nnnnThese conditions can cause many different symptoms. Your doctor will diagnose them by looking at your symptoms and doing tests. The 2017 international classification of Ehlers-Danlos syndromes has replaced the old Roman numeral system with descriptive names for each type.
nnnnSymptoms
nnnnThe connective tissue in your body is impacted by the inherited illness known as Ehlers-Danlos Syndrome. It is a network of protein and other substances that provide strength and flexibility to its surrounding structures, such as your skin, bones, and blood vessels. In people with Ehlers-Danlos, a gene mutation causes this connective tissue to be very stretchy. People with the condition have hyperextensible joints (those that can bend farther than expected), extremely flexible skin, and thin atrophic scars after wound healing.
nnnnPeople with the most common form, hypermobile Ehlers-Danlos Syndrome, often have joint pain and a general feeling of unease. They may experience muscle weakness, chronic fatigue, digestive problems, and mood changes. The severe form of this condition, vascular Ehlers-Danlos Syndrome, can lead to the rupture of large blood vessels and other organs, such as the intestines or uterus.
nnnnDoctors diagnose Ehlers-Danlos Syndrome by doing a physical examination and considering a person’s medical history. They might also order imaging tests such as echocardiography or other vascular imaging to check for heart problems that can be associated with some of the types of this condition.
nnnnDiagnosis
nnnnThe connective tissue in your body holds parts of your body together, but in people with Ehlers-Danlos syndromes, it isn’t as strong or supportive as it should be. People with Ehlers-Danlos Syndrome are likelier to have loose joints, stretchy skin that bruises easily, and fragile blood vessels. A change in the protein collagen brings on each of the 13 kinds of Ehlers-Danlos Syndrome.
nnnnYour doctor will check you for symptoms of Ehlers-Danlos syndrome and may refer you to a specialist if they think it’s appropriate. The specialist will test you to determine which type of Ehlers-Danlos you have. They might also recommend other tests.
nnnnAccording to clinical characteristics, inheritance patterns, and molecular genetic defects, there are 13 different forms of Ehlers-Danlos. Because the treatments a person may require will depend on their unique condition, it is crucial to know information regarding EDS and which variety they have.
nnnnIt’s also possible to have hypermobile Ehlers-Danlos syndrome (hEDS) without meeting the criteria for the thirteen other types. It is known as generalized joint hypermobility (GJH). People with GJH are likely to develop hEDS over time. Depending on their treatment, some people with GJH might experience pain or complications such as chronic fatigue, heart disease, or psychological problems. They’re also at higher risk of dislocations and other musculoskeletal problems.
nnnnTreatment
nnnnA genetic disorder known as Ehlers-Danlos Syndrome damages the connective tissue in a person’s body.. This tissue supports organs, holds them in place, and keeps them together like mortar between bricks. Genetic changes cause the connective tissue to be stretchy and weak, which leads to joint hypermobility and tissue fragility. These problems are only sometimes noticeable, and the symptoms vary depending on the type of Ehlers-Danlos Syndrome an individual has.
nnnnDoctors divide Ehlers-Danlos syndrome into 13 subtypes based on the location of the disease’s symptoms, how it affects the skin, the blood vessels and other internal organs, and other factors. The 2017 international classification of Ehlers-Danlos describes these 13 types, and each has major and minor criteria that help doctors distinguish between them. For example, the hypermobile Ehlers-Danlos syndrome is sometimes abbreviated as hEDS.
nnnnThose with Ehlers-Danlos Syndrome often experience pain and weakness. The disorder has no cure, but some treatments can ease discomfort and prevent complications. For example, prolotherapy can strengthen the muscles that support joints. Those with Ehlers-Danlos need to find a doctor who is familiar with the condition and understands its impact on a person’s quality of life. Psychosocial support and expectation management are also essential for people with this condition.
nnnnPrevention
nnnnEhlers-Danlos Syndrome is a group of disorders that weakens connective tissues, including the skin, tendons, and ligaments. It also can affect the walls of blood vessels and cause easy bruising. The 13 subtypes of Ehlers-Danlos Syndrome range in severity from mild to life-threatening. Some are inherited, others occur spontaneously (abnormal).
nnnnPeople with Ehlers-Danlos Syndrome can live generally with proper treatment and management. Most patients must work closely with a physical therapist familiar with the condition and can recommend stretching exercises. A physician may prescribe medications to help control pain, and some patients require a long-term medication regime to manage chronic pain and fatigue. For most patients with Ehlers-Danlos, over-the-counter painkillers like acetaminophen and ibuprofen (Tylenol and Advil) are generally harmless. Still, some patients may need prescription-strength pain medicines.
nnnnPatients should avoid activities that increase their risk of injury, such as contact sports and weightlifting. It is advised that they use padded equipment and wear safety gear. Pregnant women with Ehlers-Danlos should consult a doctor specializing in pregnancy and childbirth. If a patient has the most severe form of Ehlers-Danlos, known as vascular Ehlers-Danlos Syndrome, ruptured blood vessel walls can be fatal.
nnnnSome patients may need to have surgery. Doctors should be familiar with the specific type of Ehlers-Danlos they are treating to perform the procedure using special techniques to minimize damage to fragile tissue.
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