CSF-Venous Fistulas Occurring in First-Degree Relatives: A Multicenter Case Series

CSF-venous fistulas are a common cause of spontaneous intracranial hypotension. Though these fistulas are increasingly recognized and diagnosed, their risk factors and pathogenesis remain incompletely understood. Previous studies have elucidated many nonheritable risk factors associated with CSF-venous fistulas, including elevated body mass index (BMI), presence of spinal degenerative changes, and advanced age. Furthermore, these fistulas are associated with the presence of spinal meningeal diverticula, though many asymptomatic patients also possess these diverticula. There are likely additional predisposing factors for this disease that are yet to be discovered. The existence of CSF-venous fistulas among closely related relatives has not been previously studied, even though such cases may imply a heritable basis for this disease. In this clinical report, we performed a retrospective, multicenter case series describing 4 pairs of first-degree relatives (8 patients) who developed CSF-venous fistulas. We evaluated the clinical and imaging features of these patients, finding that most had an elevated BMI and spinal meningeal diverticula. No patients had evidence of a connective tissue disorder. Overall, our study supports previous literature regarding nonheritable risk factors for CSF-venous fistulas but also suggests the presence of undiscovered genetic predispositions.