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Ehlers-Danlos Syndrome, Kyphoscoliotic Form.

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GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2000 Feb 02 [updated 2013 Jan 24].

Excerpt

DISEASE CHARACTERISTICS:

Ehlers-Danlos syndrome (EDS), kyphoscoliotic form (previously known as EDS VI) is a generalized connective tissue disorder characterized by friable, hyperextensible skin, thin scars, and easy bruising; generalized joint laxity; severe muscular hypotonia at birth; progressive scoliosis, present at birth or within the first year of life; and scleral fragility with increased risk of rupture of the globe. Intelligence is normal; life span may be normal, but affected individuals are at risk for rupture of medium-sized arteries and respiratory compromise if kyphoscoliosis is severe.

DIAGNOSIS/TESTING:

EDS, kyphoscoliotic form is caused by deficient activity of the enzyme procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1, or lysyl hydroxylase 1). The diagnosis of EDS, kyphoscoliotic form relies on the demonstration of a markedly increased ratio of deoxypyridinoline to pyridinoline crosslinks in urine measured by high-performance liquid chromatography (HPLC) (a highly sensitive, specific, and inexpensive test) and/or assay of lysyl hydroxylase enzyme activity in skin fibroblasts. PLOD1 is the only gene in which mutations are known to cause EDS, kyphoscoliotic form.

MANAGEMENT:

Treatment of manifestations: Management of kyphoscoliosis by an orthopedic surgeon, including surgery as needed; physical therapy to strengthen large muscle groups; bracing to support unstable joints; protective pads and helmets during active sports; control of blood pressure to reduce the risk for arterial rupture; treatment with beta blockers as needed to prevent aortic dilation. Prevention of secondary complications: Standard American Heart Association guidelines for antimicrobial prophylaxis for mitral valve prolapse. Surveillance: Routine ophthalmologic examination; routine examination for inguinal hernia; regular follow-up by an orthopedic surgeon; echocardiogram at five-year intervals even if the initial echocardiogram is normal. Agents/circumstances to avoid: Sports that impact the joints, such as gymnastics or long-distance running. Pregnancy management: Affected pregnant women may be at increased risk for spontaneous abortions, premature rupture of membranes, and rupture of arteries.

GENETIC COUNSELING:

EDS, kyphoscoliotic form is inherited in an autosomal recessive manner. At conception, each sib of a proband with EDS, kyphoscoliotic form has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Prenatal testing for pregnancies at increased risk is possible once the disease-causing mutations have been identified in the family.

Copyright © 1993-2014, University of Washington, Seattle. All rights reserved.

PMID:
20301635
[PubMed]
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