[HERNS. A rare, hereditary, multisystemic disease with cerebral microangiopathy]

Abstract

Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is an autosomally dominant inherited, multisystemic disease presenting with leukoencephalopathy, progressive visual loss, and nephropathy. Furthermore, psychiatric symptoms and migraine may occur. Magnetic resonance imaging has identified contrast-enhancing cerebral lesions with surrounding vasogenic edema. Electron microscopy has shown alterations in the arterioles and capillaries consisting of multilayered basement membranes in brain, kidney, and skin biopsies. Linkage analysis has mapped the disease locus to chromosome 3p21. At the present time, no effective treatment is known. This article gives a summary of the clinical, morphological, genetical, and pathological characteristics of HERNS.