Clinical practice recommendations for hereditary cerebral small vessel disease in China

Abstract

Hereditary cerebral small vessel disease (hCVSD) is a group of rare cerebrovascular diseases caused by monogenic mutation. Although there is great variability in the age of onset of hCSVD patients, the age of onset younger than 45 years old is an important indicator. The primary clinical manifestations exhibit cognitive impairment, movement disorder, psychological disturbance, and most of which are accompanied by impairment of extra-neurological systems. The main radiological and pathological features of hCVSD include lacunar infarcts, white matter hyperdensities, cerebral microbleeds and enlargement of Virchow-Robin spaces. Current representative diseases include autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, HTRA1 related autosomal dominant cerebellar small vessel disease, collagen 4A1/2 microangiopathy, retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, hereditary cerebral amyloidosis angiopathy, and Fabry disease. In recent years, Chinese scholars have summarized diagnostic, and treatment processes in hCSVD patients. Therefore, we organize experts engaged in the studies of hCVSD, based on the Chinese reports and referring to the relevant foreign literatures, to put forward clinical working recommendations for clinical and imaging characteristics, as well as diagnosis and treatment workflows of different types of hCVSD. The aim of this recommendation is to guide physicians to recognize hCVSD patients from those of stroke in order to obtain timely diagnosis and standard treatment.