Ehlers-Danlos Syndrome
Ehlers-Danlos Hypermobility Type: Pathophysiology and Treatment
Abstract
Ehlers-Danlos syndrome is a degenerative condition caused by the malformation of collagen within the body. Many different types of Ehlers-Danlos syndrome have been linked to different types of collagen malformation in different tissues. Hypermobility type Ehlers-Danlos syndrome (HT-EDS) is the most common type of Ehlers-Danlos syndrome. HT-EDS is mainly characterized by marked joint instability and mild cutaneous involvement (Castori et al., 2010). Although it is typically considered the least severe form of the disorder, complications, primarily musculoskeletal, can and do occur (Levy, 2004). Subluxations and dislocations are common as is degenerative disk disease (Levy, 2004). Chronic pain, distinct from that associated with acute …show more content…
Subluxation 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 (Levy, 2004). Functional bowl disease disorders are likely underrecognized (Levy, 2004). Autonomic dysfunction, such as orthostatic intolerance, may also be seen (Levy, 2004). Aortic root dilation is typically of a mild degree with no increased risk of dissection in the absence of significant dilation (Levy, 2004).
Mechanisms
The diagnosis of Hypermobility type Ehlers-Danlos is entirely based on clinical evaluation and family history. In most individuals with HT-EDS, the gene in which the mutation is causative is unknown and unmapped (Levy, 2004). Haploinsufficiency of tenascin-X (encoded by TNXB) has been associated with Hypermobility type Ehlers-Danlos in a small subset of affected individuals (Levy, 2004).
Abstract
Ehlers-Danlos syndrome is a degenerative condition caused by the malformation of collagen within the body. Many different types of Ehlers-Danlos syndrome have been linked to different types of collagen malformation in different tissues. Hypermobility type Ehlers-Danlos syndrome (HT-EDS) is the most common type of Ehlers-Danlos syndrome. HT-EDS is mainly characterized by marked joint instability and mild cutaneous involvement (Castori et al., 2010). Although it is typically considered the least severe form of the disorder, complications, primarily musculoskeletal, can and do occur (Levy, 2004). Subluxations and dislocations are common as is degenerative disk disease (Levy, 2004). Chronic pain, distinct from that associated with acute …show more content…
Subluxation 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 (Levy, 2004). Functional bowl disease disorders are likely underrecognized (Levy, 2004). Autonomic dysfunction, such as orthostatic intolerance, may also be seen (Levy, 2004). Aortic root dilation is typically of a mild degree with no increased risk of dissection in the absence of significant dilation (Levy, 2004).
Mechanisms
The diagnosis of Hypermobility type Ehlers-Danlos is entirely based on clinical evaluation and family history. In most individuals with HT-EDS, the gene in which the mutation is causative is unknown and unmapped (Levy, 2004). Haploinsufficiency of tenascin-X (encoded by TNXB) has been associated with Hypermobility type Ehlers-Danlos in a small subset of affected individuals (Levy, 2004).