Format

Send to

Choose Destination

Ehlers-Danlos Syndrome, Hypermobility Type.

Authors

Levy HP1.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2004 Oct 22 [updated 2016 Mar 31].

Author information

1
Department of Medicine, Division of General Internal Medicine, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland

Excerpt

CLINICAL CHARACTERISTICS:

Ehlers-Danlos syndrome (EDS), hypermobility type 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 is common. Functional bowel disorders are likely underrecognized. Autonomic dysfunction, such as orthostatic intolerance, may also be seen. Aortic root dilation 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 EDS, hypermobility type is based entirely on clinical evaluation and family history. In EDS, hypermobility type, the gene(s) in which mutation is causative 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:

EDS, hypermobility type 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 EDS, hypermobility type has a 50% chance of inheriting the disorder. Because the gene(s) and pathogenic variant(s) responsible for EDS, hypermobility type have not been identified, prenatal testing is not possible

Copyright © 1993-2018, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

Supplemental Content

Support Center