The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience.

PURPOSE: Ehlers-Danlos syndrome type IV (EDS-IV) results from abnormal procollagen III synthesis and leads to arterial, intestinal, and uterine rupture. The purpose of this study was to review the spectrum, management, and clinical outcome of EDS-IV patients.

METHODS: We retrospectively reviewed the clinical data of 31 patients (15 male and 16 female) with a clinical diagnosis of EDS-IV treated over a 30-year period (1971 to 2001). Biochemical confirmation was obtained in 24 patients, and mutation of the COL3A1 gene was confirmed in 11 patients. The study excluded patients with other connective tissue dysplasias.

RESULTS: The mean age at the time of diagnosis was 28.5 +/- 11 years (range, 10 to 53 years). Twenty-four patients developed 132 vascular complications; of these, 85 were present either before or at the time of the initial evaluation, and 47 complications occurred during a median follow-up of 6.3 years (range, 0.5 to 26 years). Survival free of vascular complications was 90% at age 20 years, 39% at 40 years, and 20% at age 60 years. Fifteen patients underwent 30 operative interventions for vascular complications, including arterial reconstruction (n = 15), simple repair or ligation (n = 4), coil embolization (n = 3), splenectomy (n = 2), and abdominal decompression, nephrectomy, graft thrombectomy, vein stripping and thoracoscopy (n = 1 each). Three hospital deaths occurred from exsanguinating hemorrhage: two after operative interventions and one because of a ruptured splenic artery. Procedure-related morbidity was 46%, including a 37% incidence of postoperative bleeding and a 20% need for re-exploration. The incidence of late graft-related complications was 40% of arterial reconstructions, including 4 anastomotic aneurysms, 1 fatal anastomotic disruption, and 1 graft thrombosis. Patient survival was 68% at age 50 years and 35% at age 80 years. Of the 12 deaths during the study period, 11 were associated with vascular or graft-related complications.

CONCLUSION: Operative mortality in patients with vascular complications of EDS-IV was not excessively high, but the incidence of postoperative bleeding complications and late graft-related problems was significant. Despite successful repair of vascular complications, survival was shortened because of secondary vascular or graft-related complications.