alexa Ehlers-Danlos syndrome | Switzerland | PDF | PPT| Case Reports | Symptoms | Treatment

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Ehlers-Danlos Syndrome

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  • Ehlers-Danlos syndrome

    Ehlers-Danlos syndrome is a group of disorders that affect connective tissues, which are tissues that support the skin, bones, blood vessels, and other organs. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications. This can become a problem if you have a wound that requires stitches, because the skin often isn't strong enough to hold them. Ehlers–Danlos syndrome (EDS) is an inherited connective tissue disorder with different presentations that have been classified into several primary types. 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.

  • Ehlers-Danlos syndrome

    The major signs and symptoms are of 4 types: Musculoskeletal, Skin, Cardiovascular, Other manifestations or complications. Skin symptoms are: Fragile skin that tears easily, Easy bruising, Redundant skin folds, Molluscoid pseudotumors, Subcutaneous spheroids, Livedo reticularis. The cardiovascular symptoms are: Arterial rupture, Valvular heart disease, Dilation and/or rupture of ascending aorta, Postural orthostatic tachycardia syndrome, Raynaud's phenomenon, Varicose veins. Some other manifestations: Hiatial hernia, Anal prolapse, Collapsed lung (pneumothorax) Nerve compression disorders (carpal tunnel syndrome, acroparesthesia, neuropathy), Insensitivity to local anesthetics, Arnold–Chiari malformation (brain disorder), Platelet aggregation failure (platelets do not clump together properly), Pregnancy complications: increased pain, mild to moderate peripartum bleeding, cervical insufficiency, uterine tearing, or premature rupture of membranes, Sleep apnea.

  • Ehlers-Danlos syndrome

    Treatment 

    A correct diagnosis in patients with Ehlers-Danlos syndrome (EDS) is critical and must be determined if possible. Pay careful attention to cardiac auscultation and evaluation. Surgical teams caring for patients with Ehlers-Danlos syndrome (EDS) need to be informed of any history of vascular or bleeding problems and will preferentially use staples or tape (rather than stitches) for wound closure. Consultation with an ophthalmologist may be necessary. Patients with Ehlers-Danlos syndrome (EDS) should be screened for myopia, retinal tears, and keratoconus. Recommend regular eye examinations. Consultation with a dentist is necessary. Patients with connective-tissue disorders must practice meticulous dental care, which cannot be neglected. Temporomandibular disorders, facial/jaw pain, and bone/tooth density need proper assessment and care. Treat periodontitis aggressively. Patients with kyphoscoliosis type EDS (type VI) are at particular risk.

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