Abstract

Clinical Study of 1124 Cases of Ehlers-Danlos Syndrome

(Classic EDS, JHS and Vascular EDS)

Bravo, J. and Wolff, C.

PURPOSE: To show the high frequency and possible severe complications of Ehlers-Danlos Syndrome (EDS) in patients and relatives. EDS is one of the Hereditary Diseases of the Connective Tissues (HDCT), along with Marfan syndrome, and Osteogenesis Imperfecta.

METHODS: We studied 1124 EDS cases in an adult Rheumatology Clinic during the last 5 years. We did not include cases under 16 years old, since the Brighton criteria has been validated only for patients 16 years or older. The Brighton criteria was used for Classic EDS (CEDS) and Joint Hypermobility Syndrome (JHS), and the Revised Nosology, Villefrance, 1997 was used for Vascular EDS (VEDS).

RESULTS: Age range in the total group was 16-87. Women 78.8%. Frequency: CEDS (EDS type I - II): 1.1%; JHS (EDS - III): 93.6%; Vascular EDS (VEDS or EDS - IV): 5.3%. None of the patients had been previously diagnosed with EDS. Fourteen different rheumatological diseases were found associated to EDS: 14.5% (153/1052) of JHS cases, 5.0% (3/60) of VEDS cases. The most frequent associations with JHS were: Rheumatoid Arthritis 23.5%, Condrocalcinosis 13.7%; Gout 10.5%; Psoriatic Arthropaty 9.2%; SLE 10.5%; Spondyloarthropaties 9.8%. There were 2 cases with Condrocalcinosis and one case with SLE associated to VEDS (n = 60). Patients with CEDS had no associated arthritis.

Severe complications in patients: Spontaneous Neumothorax, Cerebral Aneurysm, Hemorrhage during labor, Gravid uterus rupture, Baker’s cyst rupture, Hemangiomas and Carotid dissection, were present in JHS (1.8% - 19/1052) and in VEDS (20.0% - 12/60), but none in CEDS.

Severe complications in relatives: Spontaneous Neumothorax, Cerebral Aneurisms, other aneurisms, Hemorrhage during labor, Aortic Rupture, Sudden Death, Prune-Belly Syndrome, Myocardiopathies and Aniridonia, were present in JHS (4.7% - 49/1052) and in VEDS (28.3% - 17/60). There were no uterine ruptures, but there were Sudden Deaths in 6 JHS relatives (0.6%) and in 5 VEDS relatives (8.3%). Patients with CEDS had no severe associated complications.

CONCLUSIONS: Ehlers-Danlos Syndrome is frequent in rheumatological practice. JHS accounted for (94%) of the patients studied and usually not diagnosed, VEDS is less frequent (5%), but has worse prognosis. Frequently, JHS patients have other rheumatological diseases associated (15%) and VEDS patients have them in 5%. This association is important in the differential diagnosis and in the evaluation of pain in a patient with associated arthritis. There was no arthritis associated to CEDS, in part probably because these were younger patients.