Heritable disorders of connective tissue.
Baillieres Best Pract Res Clin Rheumatol
; 14(2): 345-61, 2000 Jun.
Article
en En
| MEDLINE
| ID: mdl-10925749
ABSTRACT
This chapter seeks to draw readers' attention to the importance of the heritable disorders of connective tissue in clinical practice. It describes the principal features of the Marfan and Ehlers-Danlos syndromes, osteogenesis imperfecta and benign joint hypermobility syndrome, their clinical and prognostic similarities and differences, and their distinguishing features. Recently revised international classifications drawing on advances in molecular genetics are described in detail. Wherever possible, patients' symptoms are explained on the basis of the altered biomechanics of genetically aberrant connective tissue matrix proteins. Finally, the chapter draws attention to the often unrecognized burden of chronic pain borne by patients with these conditions, a feature of which many rheumatologists seem unaware, and sets out a rational and holistic approach to treatment and management that is based on the best currently available evidence.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Osteogénesis Imperfecta
/
Síndrome de Ehlers-Danlos
/
Inestabilidad de la Articulación
/
Síndrome de Marfan
Límite:
Humans
Idioma:
En
Revista:
Baillieres Best Pract Res Clin Rheumatol
Asunto de la revista:
REUMATOLOGIA
Año:
2000
Tipo del documento:
Article
País de afiliación:
Reino Unido
Pais de publicación:
ENGLAND
/
ESCOCIA
/
GB
/
GREAT BRITAIN
/
INGLATERRA
/
REINO UNIDO
/
SCOTLAND
/
UK
/
UNITED KINGDOM