Introduction

The Ehlers–Danlos syndrome (EDS) is actually a heterogeneous group of connective tissue diseases whose manifestations collectively include fragile or hyperelastic skin, hyperextensible joints, vascular lesions, easy bruising and excessive scarring following an injury (Beighton, 1993). At least ten subtypes of the EDS have been characterized on the basis of clinical manifestations, inheritance pattern, and specific collagen defects (Byers, 1994). Nevertheless, it may be hard to precisely categorize a given patient because of overlapping clinical features and because there is considerable phenotypic variation even among patients with the same subtype (Byers et al., 1979).

Over three-fourths of the patients with EDS have types I, II, or III. Aside from occasional reports of compressive peripheral neuropathy related to ligamentous laxity with EDS (Bell & Chalmers, 1991; Kayed & Kass, 1979), neurological dysfunction is unusual in EDS patients except for the cerebrovascular lesions in individuals with type IV, so this chapter will emphasize type IV EDS. The prevalence of EDS type IV is estimated at 1 in 50 000 to 500 000 individuals (Byers, 1995).

Clinical manifestations

The diagnosis of type IV EDS is often delayed because neither hyperelastic skin (Fig. 17.1) nor hyperextensible joints typically occur. A family history of sudden unexplained death (especially from an aneurysm or during childbirth) may be a clue to the diagnosis. An earlier spontaneous hemorrhage, major hemorrhage from minor trauma, hemorrhagic complications during surgery, or bowel rupture suggests the diagnosis in individuals with subtle findings.