Internal Medicine

P1: OXT/OZN/JDO P2: PSB

0521779407-E-01 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:10

Ehlers-Danlos Syndrome 521

Specific Diagnostic Tests

■No specific diagnostic tests available clinically

■Ultrastructural abnormalities in collagen detectable on electron

microscopy, and biochemical abnormalities in fibroblast collagen

in some types

■Mutations in various collagen genes, specific for some types, used

as research tool

■Type VI has decreased hydroxylysine content in skin Type I collagen

■Type IX has low serum copper and ceruloplasmin

differential diagnosis

■Marfanoid hypermobility syndrome lacks skin hyperextensibility,

bruising, and abnormal scarring

■Osteogenesis imperfecta has osteoporosis, susceptibility to frac-

tures, specific bony abnormalities, blue sclerae, hearing loss

management

General Measures

■Physical therapy to build muscle mass to stabilize joints

■Avoidance of sports that stress joints

■Braces or surgical correction of scoliosis

■Orthopedic surgery to prevent recurrent dislocations

■Analgesics or nonsteroidal anti-inflammatory drugs for arthralgias

or osteoarthritis

■Delay surgical suture removal to decrease scarring

■Diligent investigation and close observation of vascular and visceral

symptoms in patients with Type IV

■Elective cesarean section to decrease risk of uterine rupture and vagi-

nal tears

■Genetic counseling

specific therapy

■None

■High doses of vitamin C may help in Type VI

follow-up

■Assess joint symptoms, posture, scarring

complications and prognosis

Complications

■Recurrent dislocations may cause joint effusions or hemarthrosis

■Premature osteoarthritis