Ehlers-Danlos Syndrome type III: a Clinical review of 1606  patients

 

Bravo JF 1, Wolff C 2.

1 San Juan de Dios Hospital,

2 Department of Internal Medicine, University of Chile. Santiago, Chile

 

Objective. Highlight the high frequency of Dysautonomia (Dys), Osteoporosis (O), and other signs and symptoms of Ehlers-Danlos Syndrome type III (EDS-III) that for most authors is the same as Joint Hypermobility Syndrome (JHS). JHS can be associated to arthritis. The fact that the Beighton score (BSc) is insufficient and that the Brighton criteria (BC) is needed to diagnose JHS.

 

Patients. Since 2002, out of 2007 new patients we found 1606 JHS patients, in our Rheumatology Clinic. The BSc and the BC were applied to all patients. Females 78%.  Age: range 16 - 87 y/o, average 46. Patients were grouped by ages, those less than 30 y/o (Group A), those between 30 and 49 y/o (Group B), and those 50 y/o or older (Group C). Statistical analysis: Fisher’s exact test and MedCalc software program.   

 

Results. 1606/2007 new patients had JHS (80%). 112/1606 patients had arthritis (7.2%): RA (37.5%). Psoriatic arthropathy (18%). LES (16%) and PEP (14%). Group A 267 patients (16.6%); Group B 646 (40.2%); Group C 693 (43.2%). BSc negative: 56.8%. Marfanoids: 14.3%. Light blue sclera: 76.8%: M 56.1%, F 82.6%. Dys 710/1591 (44.6%): M 24.3%, F 50.4%. In M in groups: A 54.4%, B 26.5%, C 11.6%; In F in groups: A 79.1%, B 62.9%, C 27.2%. BMD done in 803, low BMD (Osteopenia and O): 71.0%. M 76.7%, F 69.7%. In M in groups: A 66.7%, B 68.4%, C 86.8%. In F in groups: A 64.5%, B 62.7%, C 75.4%. O: 22.4. M 21.2%, F 22.7%. O: in M in groups: A 14.3% B 12.3%, C 30.9%. In F in groups, A 14.5%, B 13.3%, C 30.5%. Hand-head (87%), Elephant paw (81%), Horizontal thumb (77%), Valgus elbow (74%); Flying bird hand (72%), Typical soft skin (70%), Typical JHS face (53%).

 

Conclusions: Dysautonomia was frequent in young F (79%), more frequent in F at all ages. Low BMD was frequent, even at young ages, including Osteoporosis (14% in both sexes). Arthritis was seen in 7%. Light blue sclera was frequent in F (81%). Marfanoid habitus (14%). Other frequent diagnostic signs (>70%) were: Hand holding head; Elephant paw, Horizontal thumb; Valgus elbow; Flying bird hand; and Typical soft skin. Typical JHS face (53%). As in previous studies, the Beighton score was again negative in 56.8%. This is important since in some studies, many JHS patients are not included when only applying the BSc rather than the BC.