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Key Points

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  • Disease summary:

    • Ligamentous laxity predisposes to joint instability, subluxations, and dislocations.

    • Chronic pain and fatigue are common.

    • The classical type is distinguished from the hypermobility type by the presence of skin fragility, hyperelasticity, and atrophic scarring in the former.

    • Additional features may include easy bruising, prolonged bleeding, cardiovascular autonomic dysfunction, mild-to-moderate aortic root dilation, and functional bowel disorders.

  • Hereditary basis:

    • Both types of EDS are inherited in an autosomal dominant pattern.

    • The genetic basis of most cases of hypermobility type EDS is unknown.

    • Mutations in one of the two genes for type V collagen account for half of cases of classical type EDS.

  • Differential diagnosis:

    • Four other types of EDS are described in Table 169-1.

    • There are dozens of other genetic causes for ligamentous laxity, including (but not limited to) Marfan syndrome, Loeys-Dietz syndrome, Stickler syndrome, fragile X syndrome, and Turner syndrome.

    • Hypotonia, which itself is a feature of many genetic conditions, can also cause joint laxity, and may be difficult to distinguish from ligamentous laxity.

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Table Graphic Jump Location
Table 169-1System Involvement
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Diagnostic Criteria and Clinical Characteristics

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Diagnostic Criteria

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(see Table 169-2):

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Table Graphic Jump Location
Table 169-2Major Supportive and Exclusionary Diagnostic Criteria for Hypermobility and Classical Type Ehlers Danlos Syndrome
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Joint laxity is semi objectively measured with the Beighton scale (1 point each for ability to place palms on the floor with knees straight; hyperextension of each elbow or knee >10 degrees; dorsiflexion of each fifth finger >90 degrees; passive apposition of each thumb to flexor surface of forearm). A score of 5 or more is considered positive, but males, older individuals, and those with arthritis and/or history of trauma typically have less laxity, so lower scores may be considered positive.

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Skin elasticity is best ...

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