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• W2991497565 abstract "Clinical characteristics Hypermobile Ehlers-Danlos syndrome (hEDS) is generally considered the least severe type of EDS, although significant complications, primarily musculoskeletal, can and do occur. The skin is often soft and may be mildly hyperextensible. Subluxations and dislocations are common; they may occur spontaneously or with minimal trauma and can be acutely painful. Degenerative joint disease is common. Chronic pain, distinct from that associated with acute dislocations, is a serious complication of the condition and can be both physically and psychologically disabling. Easy bruising, functional bowel disorders, and cardiovascular autonomic dysfunction are common. Aortic root dilation, when present, is typically of a mild degree with no increased risk of dissection in the absence of significant dilation. Psychological dysfunction, psychosocial impairment, and emotional problems are common. Diagnosis/testing The diagnosis of hEDS is based entirely on clinical evaluation and family history. The gene(s) in which mutation causes hEDS are unknown and unmapped. Management Treatment of manifestations: Physical therapy tailored to the individual; assistive devices (braces to improve joint stability; wheelchair or scooter to offload stress on lower-extremity joints; suitable mattress to improve sleep quality); pain medication tailored to symptoms; appropriate therapy for gastritis/reflux/delayed gastric emptying/irritable bowel syndrome; psychological and/or pain-oriented counseling. Prevention of primary manifestations: Low-resistance exercise to increase both core and extremity muscle tone for improved joint stability; appropriate writing utensils to reduce finger and hand strain. Prevention of secondary complications: Calcium, vitamin D, low-impact weight-bearing exercise to maximize bone density. Surveillance: DEXA every other year if bone loss is confirmed. Pregnancy management: Labor and delivery may progress very rapidly, even in primigravid women. There is no clear advantage to vaginal vs cesarean delivery. Pregnant women with known aortic root dilation should have an echocardiogram in each trimester. Agents/circumstances to avoid: High-impact activity increases the risk of acute subluxation/dislocation, chronic pain, and osteoarthritis. Genetic counseling Hypermobile EDS is inherited in an autosomal dominant manner. Most individuals diagnosed with the syndrome have an affected parent. The proportion of cases caused by a de novo pathogenic variant is unknown. Each child of an individual with hEDS has a 50% chance of inheriting the disorder. Because the gene(s) and pathogenic variant(s) responsible for hEDS have not been identified, prenatal testing is not possible." @default.
• W2991497565 created "2019-12-05" @default.
• W2991497565 creator A5054140224 @default.
• W2991497565 date "2018-06-21" @default.
• W2991497565 modified "2023-09-27" @default.
• W2991497565 title "Hypermobile Ehlers-Danlos Syndrome" @default.
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