Background: Ehlers Danlos syndrome (type IV) and kidney and liver cyst disease can present a common factor: anomalous biosynthesis of structural collagen and elastic tissue. We present an exceptional case.
Case report: A 62-year-old man complained of pain in the upper left quadrant of the abdomen. Ultrasonography, magnetic resonance imaging and arteriography evidenced an aneurysm of the splenic artery, an aneurysm of the hypogastric artery, multiple cysts in the kidney and liver, and mitral valvulopathy. Treatment was splenectomy with resection of the splenic aneurysm and resection of the iliac aneurysm and iliac-iliac bypass.
Discussion: The association of kidney and liver cyst disease with venous gastrointestinal and cardiovascular complications is well known. The simultaneous presence of cysts and peripheral and visceral aneurysms with anomalies of the arterial wall resembling Ehlers Danlos syndrome (type IV) would suggest that these two diseases might result from a common connective tissue anomaly. The underlying mechanism(s) remain unknown.