[Ehlers-Danlos syndrome, with special emphasis in the joint hypermobility syndrome].
There is an urgent need to increase the awareness on the Joint Hyper mobility Syndrome QHS). This is a congenital and prevalent emergent condition that is frequently undiagnosed and that causes significant health problems. Besides recurrent muscular-skeletal problems and signs and symptoms derived from tissue fragility, adolescents and young adults may develop osteoporosis, early osteoarthritis or dysautonomia, that are common in the disease, and deteriorate quality of life. Many JHS patients have signs and symptoms suggestive of fibromyalgia and are usually misdiagnosed. Physicians should be able to differentiate the less severe form of JHS from the Vascular Ehlers-Danlos Syndrome, to diagnose it before the appearance of serious complications and even death. The study of these diseases is a promising area for genomic and rheumatologic research.
Bravo
Jaime F
JF
Departamento de Reumatología, Departamento de Medicina Occidente, Facultad de Medicina, Universidad de Chile, Santiago, Chile.
D000293:Adolescent; D003937:Diagnosis, Differential; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis*; D019066:Facies; D006801:Humans; D007593:Joint Instability / Q000151:congenital / Q000175:diagnosis*; D013577:Syndrome; D055815:Young Adult