Ehlers-Danlos syndrome hypermobility type and the excess of affected females: possible mechanisms and perspectives.

摘要

Joint hypermobility (JH) is a relative common finding in clinical practice, especially in rheumatology [Al-Rawi et al., 1985; Birrell et al., 1994]. A trained clinician may easily recognize JH by using specific sets of diagnostic criteria, the Beighton score being the most common [Beighton et al., 1973]. JH is often a benign trait and may regress with age [Grahame, 1999]. On the other hand, the term "joint hypermobility syndrome," which is now considered one and the same with the Ehlers-Danlos syndrome hypermobility type (EDS-HT) [Tinkle et al., 2009], refers to the concurrence of JH with additional musculoskeletal complaints without features of other well-defined connective tissue disorders [Hakim and Grahame, 2003]. While JH is deemed a multifactorial attribute, EDS-HT generally is an autosomal dominant or, more rarely, recessive trait [Wood, 1971; Grahame, 1999; Levy, 2010]. The molecular bases of JH and EDS-HT are still largely obscure, although approximately 5% of EDS-HT patients harbor homozygous or heterozygous mutations in the TNXB gene [Schalkwijk et al., 2001; Zweers et al, 2003].