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EDS is a heterogeneous group of heritable connective tissue disorders, characterized by articular (joint) hypermobility, skin extensibility and tissue fragility. EDS is caused by a defect in the structure, production, or processing of collagen or proteins that interact with collagen, such as mutations in the COL5A or COL3A genes. Symptoms: Symptoms of EDS include: loose joints. highly elastic, velvety skin. fragile skin. skin that bruises easily. redundant skin folds on the eyes. muscle pain. muscle fatigue. benign growths on the pressure areas (such as the elbows and knees).
Diagnosis: A diagnosis can be made by an evaluation of medical history and clinical observation. The Brighton criteria are widely used to assess the degree of joint hypermobility. Diagnostic tests include collagen gene mutation testing, collagen typing via skin biopsy, echocardiogram, and lysyl hydroxylase or oxidase activity. If there are multiple affected individuals in a family, it may be possible to perform prenatal diagnosis using a DNA information technique known as a linkage study.
Treament: Medications: Pain: If over-the-counter pain relievers such as ibuprofen (Advil, Motrin IB, others) and naproxen sodium (Aleve) aren't enough, your doctor may prescribe stronger medications for your joint or muscle pain. Physical therapy and surgery. Epidemology: Ehlers Danlos syndrome is an inherited disorder estimated to occur in about 1 in 5,000 births worldwide. Initially, prevalence estimates ranged from 1 in 250,000 to 1 in 500,000 people. Ehlers Danlos affects males and females of all racial and ethnic backgrounds, although some types are more common among certain groups than others.