Current Utilization of Mast Cell Stabilizers for Preemptive Treatment of NF1 Neurofibromas

Abstract

The morbidity and mortality of Neurofibromatosis type I (NF1) are both largely related
to the person’s neurofibroma burden. That burden can presently be minimized by mast cell
stabilizers, with ketotifen as the one most frequently considered for NF1 patients in the published
literature. Here, I review pertinent clinical and research publications to 1) document the
rationale for using mast cell blockers in NF1, 2) consider the NF1 clinical impact of mast cell
blockers, 3) document the relative safety and very modest expense of (at least some) mast cell
blockers, and 4) suggest that the data are sufficiently robust to support the regular, if not routine
use of mast cell blockers to treat NF1, particularly in children, while the NF1 neurofibroma
burden is the least it will be. The rationale for these salutary results have been established
by histopathology, Nf1+/- mouse models, a series of open-label and double-blind protocols, ,
compelling case reports and a series of patients who have afforded their own self-determined
mast cell stabilizer treatment (most often ketotifen). In addition, in the intervening 20-plus
years since the first formal protocol publications, the positive treatment results have never been
refuted or contradicted. The results of the mast-cell-stabilizing treatment are designed to keep
the NF1 neurofibroma burden and its consequences at their minimums, in effect preempting
NF1 neurofibroma initiation and progression as much as possible.