Objectives

To redefine the symptomatology of Ehlers-Danlos syndrome and help better identify it. Propose and develop treatments mainly in physical medicine and organize rehabilitation.

Patients

A study of 600 patients with active file followed by physical medicine and rehabilitation units, examined by the same physician, according to a standard analytical and quantitative evaluation. Production of a database and use of Excel software. Evaluation of rehabilitation therapy where each individual was his/her own control.

Results

Described by Edvard Lauritz Ehlers (1900), then by Alexandre Danlos (1908) this debilitating genetic connective tissue disease is artificially designated by two signs: hypermobility and hyperlaxity. The diagnosis is purely clinical, based on the association of pain, fatigue, impaired proprioception, fragile skin, hypermobility, bleeding, constipation, gastric reflux, dyspnea, respiratory “blocage”. Other events: ENT, ophthalmology, cardiovascular, obstetrical, bladder, spine, thermal, hypnic, memory, attentional disorders, are also observed.

Treatments

Compressive garments, braces, TENS, “Percussionnaire”, oxygen, balneotherapy.

Discussion

The syndrome is very often confused with fibromyalgia, sclerosis, axial rheumatism, asthma, Crohn’s disease, hypothyroidism, and psychopathology. Very rare forms with a vascular, intestinal, obstetrical important risk have been described but the distinction remains unclear despite the identification of COL3A1 in vascular EDS. The therapeutic contribution of garments is confirmed.

Further reading

Beighton P., De Paepe A., Steinman B. et al., Ehlers-Danlos syndrome: revised nosology, Villefranche 1997. Am J Med Genet 1998; 77: 33–7.

Hamonet Cl., Laouar R., Vienne M., Brissot R., Bernard J.-C., Comberg A., Vêtements compressifs et syndrome d’Ehlers-Danlos. Étude multicentrique et prospective sur 49 personnes du handicap avec le Handitest. Journal de réadaptation médicale, no 4 2010; 30:pp 184–191.