Allison E. Arch, MD

Terry AR, Jordan JT, Schwamm L, and Plotkin SR. Increased Risk of Cerebrovascular Disease Among Patients With Neurofibromatosis Type 1: Population-Based Approach. Stroke. 2016

Neurofibromatosis type I (NF1) is associated with multiple different tumor types. As it turns out, it may also be associated with vasculopathy and stroke. The link between NF1 and vascular events has been previously addressed in the literature, but it remains poorly understood. In this article, Terry and colleagues explored the relationship between NF1 and stroke in a case-control study. The authors used the population in the US Nationwide Inpatient Sample to screen for NF1 admissions between 1998 – 2009. Then they matched controls to cases in a 5:1 ratio, using the variables age, gender, geographic region, hospital size, and hospital type (rural, urban non-teaching, or urban teaching).

The results showed that NF1 was associated with an increased odds of stroke in hospitalized patients, most notably hemorrhagic strokes. The odds of any stroke was 1.2 (p<0.0001), and the odds of intracerebral hemorrhage was 1.9 (p<0.0001). Patients with NF1 had strokes at a younger age, and the adult patients with NF1 and stroke had a lower prevalence of stroke risk factors, including a lower prevalence of diabetes, atherosclerosis, and atrial fibrillation.

This is a significant finding. Currently, if a patient with NF1 presents with acute neurologic findings, tumor and tumor-associated morbidities are highest on the differential diagnosis. However, if NF1 is also associated with stroke, then vascular events should now also be considered.