Symptom and joint mobility progression in the joint hypermobility syndrome (Ehlers-Danlos syndrome, hypermobility type).
OBJECTIVE
To evaluate progression of symptoms and joint mobility in the joint hypermobility syndrome (JHS) in order to identify specific disease pictures by age at presentation.


METHODS
Fifty JHS patients (44 females, 6 males) were evaluated by Beighton score (BS) calculation, and presence/absence and age at onset of 20 key symptoms. Incidence and prevalence rates by age at onset and sex were calculated and compared by chi-square, Fisher's exact test and Mann-Whitney U-test. Relationship between BS and age at examination was evaluated by the Spearman rho correlation. The existence of an age cut-off separating patients with or without a positive BS was analysed by the receiver operating characteristic analysis. Influence of age on the single components of the BS was also investigated.


RESULTS
Except for isolated features, the overall clinical presentation was the same between sexes. In the whole sample, statistically significant differences by age at presentation were registered for fatigue, myalgias, muscle cramps, strains/sprains, dislocations, tendon ruptures, tendonitis, gastroesophageal reflux, chronic gastritis, constipation/diarrhoea and abdominal hernias. A clear inverse correlation between age at examination and BS was demonstrated with an age cut-off fixed at 33 years. Among the components of the BS, spine and elbow joints were not significantly influenced by age.


CONCLUSIONS
This study confirmed the existence of a protean clinical history of JHS which may be exemplified in different phases with distinguishable presentations. The knowledge of the peculiarities of each of them will help the practitioner in recognising and, hopefully, treating this condition.
Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy. mcastori@scamilloforlanini.rm.it
Marco
M
Castori
Isabella
I
Sperduti
Claudia
C
Celletti
Filippo
F
Camerota
Paola
P
Grammatico
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D018450:Disease Progression; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000503:physiopathology; D005260:Female; D006801:Humans; D015994:Incidence; D007558:Italy / Q000453:epidemiology; D007593:Joint Instability / Q000175:diagnosis* / Q000453:epidemiology / Q000503:physiopathology; D007596:Joints / Q000473:pathology* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D012372:ROC Curve; D055815:Young Adult