Ehlers-Danlos syndromeis the disorders that directly or indirectly affect the collagen and the connective tissues that support the skin, bones, blood vessels, and other organs and tissues in the body. Collagen, which is the building block essential for strengthening connective tissue and providing flexibility, is affected in the EDS.EDS can occur due to poor strength of collagen or absence of sufficient amount of structurally normal collagen. They are generally genetic in nature.
The Ehlers-Danlos syndrome is split into 13 types, which include both rare and general types of syndromes. Each subtype has its own unique clinical criteria that are useful in diagnosis. Every patient’s signs and symptoms are matched with the criteria to identify the best fit subtype. Patients with EDS are supposed to possess the skin that is velvety or loose. The patients often tend to develop paper-thin scars. They have excessively flexible loose joint, thus increasing the risk of them being dislocated.
The fragile blood vessels lead the patients to experience easy bruising and increased chances of serious bleeding.
EDS is generally inherited. It may be a dominator recessive genetic condition.
In the dominant genetic disorder, only one single copy of the abnormal gene is inherited and is the cause of the EDS. The gene can be inherited from either parent, and the risk is 50% for the abnormal gene to pass from a parent to the child.
At times the disorder can be caused due to an instant genetic mutation in the sperm or egg cell. Then, the EDS does not involve hereditary factors from either of the parents.
In recessive genetic disorders, the individual inherits two copies of the abnormal gene from each of the parents.
Thus, it is necessary to go for the further evaluation of the family members in the family if any one of the family members is diagnosed with EDS. It helps in determining the mode of inheritance of the disease in the family.
SIGNS AND SYMPTOMS
Joints and skin are the most affected due to EDS. The main symptoms are usually seen to occur in joints and the skin. Some other symptoms also pertain to exist.
- Joints: Hypermobility in joints, loose/unstable joints that are prone to dislocations, frequent joint pains, early onset of osteoarthritis.
- Skin: Soft velvety skin, hyper-extensibility in the skin, fragile skin that bruises easily, slower wound healings, severe scars.
- Other symptoms: Musculoskeletal pain, arterial/uterine rupture, gum disease, mitral valve prolapsed. Each subtype of EDS causes a distinct problem in connective tissue.
Loose joints, stretchy skin, and a family history of Ehlers-Danlos Syndrome may make the person go for a diagnosis. Genetic tests are used to confirm the diagnosis, and further study of signs and symptoms helps in determining the subtype of EDS.
Though there is no cure to Ehlers-Danlos Syndrome, efficient treatment can help in managing the symptoms and prevent the situations from further complicating.
Suitable drugs are advised by the doctors to help you in controlling the pain, blood pressure, and many other severe symptoms.
Pain relievers are very important for the treatment of Ehlers-Danlos Syndrome, here is how you can track your pain. Strong medications are put onto a prescription when one starts experiencing acute injuries.
With EDS, blood vessels become more fragile, and thus, you may need to reduce the pressure on the vessels to keep the blood flow under control. Thus, medication to control blood pressure is also prescribed by the doctor.
- Physical Exercises
In EDS, the chances of joints to dislocate increases as the connective tissues weaken. Exercises help in strengthening of muscles and provide some stability to the joints. The patients may be advised to do certain physical therapies to prevent dislocation in the joints.
- Surgeries like procedures
At times when situations become severe, repairing of joints is recommended for the joints damaged due to dislocations. But this doesn’t guarantee full healing of the connective tissues. Surgery is only necessary to repair ruptured blood vessels.
- Home Remedies
Preventing injuries is a necessity. A few steps can be taken but the patient to be safe every time to avoid injuries,
- Contact sports, Weightlifting, and other such activities need to be avoided as they increase the risk of the injury. The motive is to provide minimum stress to the knees, ankles, and the major joints in the body.
- Chewing hard things, chewing gums, and such kinds of stuff need to be avoided. Gums and teeth are also largely affected by EDS and can cause major complications.
- Brass instruments must be strictly avoided. Violin, Piano can be a good option. They may also contribute to increasing the flexibility of the hands.
The patients tend to face challenges at home, work, and relationships with others. It is thus necessary for them to communicate and seek support from their near and dear ones.
- Research: Know more about the EDS, the subtype you suffer, and how can you control the conditions. It helps you in boosting your confidence and understanding your symptoms very well.
- Talk and share: Explain your situation to your family and friends. Share it with your employer. Ask them to support you in the possible ways and how you want them to behave and act.
- Positive Environment: Build positive and hopeful surroundings near you. Visit a psychologist if needed. Be around caring and helpful people.
The management of patients suffering from EDS depends mainly on the education for the patient to prevent and help them understand the early recognition of complications due to the disease. It is necessary for them to realize the common principles and complications. They must also have a deep understanding of the symptoms. A symptom tracker may serve as an additional help to keep a record of the symptoms.
EDS is suggested to have grown during recent times among the general public. Thus, though Ehlers Danlos may seem to a serious condition, it can be controlled and managed by the patient if proper medications and prevention methods are employed.