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The Ehlers-Danlos Syndrome

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    All six types of Ehlers-Danlos Syndrome (EDS) are diagnosed with the same criteria. The diagnosis begins with a complete history and physical examination. During the examination, the physician will evaluate the range of motion, pes planus, scoliosis, and skin hyperextensivity. The physician will also diagnose using the Beighton Criteria. This is where parts of the body are moved past zero position and measured. One point is granted for every body part that hyperextends. A maximum score of nine is possible. The movements include passive dorsiflexion of the fifth metacarpophalangeal joint past ninety degrees, hyperextension of elbow greater than ten degrees, opposition of thumb to the ipsilateral forearm, hyperextension of the knee greater than ten degrees, and placing hands on the floor without bending the knees. Genetic testing and cardiac testing are also used to diagnose.

    Hypermobile EDS is the first type and the most common type. The cause of hypermobile EDS is unknown, but medically suggested to be a cause of the mutation in the COL5A2 collagen. Common symptoms of hypermobile EDS include joint hypermobility, chronic pain, joint swelling, and inguinal hernias. More common symptoms include bruising, bleeding, and joint hypermobility. Hypermobile EDS cannot be cured, but can be treated to improve the quality of life. Anti-inflammatory drugs and RICE (rest, ice, compression, elevation), can be used to reduce swelling and diminish pain. Balance, coordination, and walking are all therapeutic treatments for hypermobile EDS. Supportive and protective splints are used to prevent injuries and treat current injuries. Hypermobile EDS is the most common type and easy to manage.

    Classic EDS is the second type and also very common. Classic EDS is recessive and caused by defects with the Tenascin XB collagen and TNXB gene. Classic EDS is characterized by elastic, smooth skin, poor healing, joint hypermobility, and mitral valve prolapse. Just like hypermobile EDS, it cannot be cured, but it can be treated. Classic EDS can be treated with medical interventions, good hydration and healthy habits, hydrotherapy, and physical therapy. Hydrotherapy is therapy using water, like swimming and water aerobics. Classic EDS is a common, yet painful type of Ehlers. Vascular EDS is the third and most dangerous form of EDS. Vascular EDS is dominant and caused by a type III collagen deficiency in the COL3A1 gene.

    Thin, translucent skin, lobeless ears, and easy bruising are all symptoms of vascular EDS. People with vascular EDS are also at risk for club foot, artery and organ rupture, tendon and muscle rupture, pneumothorax, and varicose veins. With the threat of artery and organ rupture, surgery to treat vascular EDS should be avoided. Optimal therapy should be used to treat vascular EDS, beginning with increasing the awareness about the bleeding, tissue fragility, and spontaneous perforations of inner organs. It is also recommended for the patient to work closely and carefully with select centers and hospitals for treatment. Although a cure cannot be accomplished, the treatments mentioned are used to better the quality of life. Vascular EDS is dangerous and needs to be closely monitored.

    Kyphoscoliosis is the fourth type and is not as common as the first two types. Kyphoscoliosis is recessive and caused by a deficit of the PLOD1 gene and a deformity of the LH1 collagen. Symptoms of kyphoscoliosis include progressive scoliosis, small corneas, scleral fragility, and ocular damage. When treating kyphoscoliosis, physicians are hesitant to perform surgery because of potential extreme complications. Although there is some hesitation, scoliosis can be corrected by posterior spinal fusion. Being that kyphoscoliosis not the most common form of EDS, it is the least known and researched type.

    Arthrochalasia EDS is the fifth type of EDS. It is recessive and caused by a mutation of the COL1A1 and COL1A2 genes and a deformity of the type I collagen. Arthrochalasia is characterized by severe joint hypermobility, reduced mobility, congenital hip dislocation, and mild osteopenia (low bone density). Treatments for arthrochalasia are less invasive and include physical therapy. Assistive devices like braces and wheelchairs are also used to treat arthrochalasia. In minimal cases, some sufferers wear pads to prevent scrapes and bruises. Arthrochalasia is not as common as the other types, but is equally important.

    Dermatosparaxis EDS is the sixth and final type of EDS. It is recessive and caused by a defect in the ADAMTS-2 collagen and the ADAMTS2 gene. Dermatosparaxis is characterized by saggy, extremely fragile skin, dwarfism, and hernias. Dwarfism is only present in very minimal cases. Dermatosparaxis can be treated by physical therapy, and assistive devices, like braces. Hernias will be treated surgically. Another type of preventative treatment is avoiding contact sports, like basketball or football. Dermatosparaxis is a rare form of EDS.

    In conclusion, Ehlers Danlos Syndrome is a connective tissue disorder that is mainly caused by gene mutations and collagen deficiencies. There are six types of EDS that are all diagnosed using the same criteria. Each of the six types has their own symptoms, but all have joint hypermobility, tissue fragility, and skin hyperextensivity in common. Although there is not a cure for Ehlers Danlos Syndrome, there are multiple treatments tailored to every type. Ehlers Danlos Syndrome is a very painful disease that is difficult to cope with, but with the many forms of treatment and upcoming research and technology, there is hope for people struggling with EDS.

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    The Ehlers-Danlos Syndrome. (2022, Apr 14). Retrieved from https://graduateway.com/the-ehlers-danlos-syndrome/

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