Spontaneous rupture of the renal artery in a patient with ehlers-danlos syndrome type IV

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Spontaneous rupture of larger-sized arteries is often caused by inborn defects in genes encoding structural proteins (e.g. collagen/fibrillin/elastin). 1 Recent advances in molecular biology have identified the causative genetic defect in several diseases with vascular fragility. The gene causing the Marfan syndrome 2 encodes the elastin-associated glycoprotein Fibrillin I, whilst the Fibrillin II gene has been linked to a related condition called congenital contractural arachnodactyly. 3 A major genetic component has also been demonstrated in the aetiology of common abdominal aortic aneurysms. 4 Collagen type III (COL3A1), an important structural component of arterial walls, is linked to familial aortic aneurysms, and has been proposed as a candidate gene. 5 It also causes Ehlers-Danlos syndrome type IV (EDS IV), 6 which is one of the rarest of the 10 subtypes of Ehlers-Danlos syndrome (EDS). 7'8 EDS IV has been estimated to cause 4% of EDS as a whole, with an incidence of 1:5 000 0007 (probably underestimated). It is clinically severe; causing spontaneous rupture of larger arteries as well as spontaneous intestinal perforations. %12 During the past few years, the underlying mutations/deletions in the collagen type III gene have been characterised in detail in several patientsd 13'~4 On this basis, structurefunction relationships have been predicted. ~5 We report a patient presenting with spontaneous rupture of the renal artery. Histological examination showed remarkable and unique defects of the media layer. The diagnosis of EDS type IV was confirmed by clinical and biochemical criteria.