Chronic Pain in Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis: A Review on Epidemiology, Pathophysiology, Symptomatology and Treatment.

Abstract

Background: Neurofibromatosis (NF) is a group of neurogenetic disorders (including neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis) known for their tendency to induce the development of numerous nerve sheath tumors. Pain is a common symptom associated with NF, and the incidence of this pain can vary significantly, severely affecting the quality of life for many patients.

Objective: This narrative review aims to compile recent epidemiological data on NF1, NF2 and schwannomatosis, covering prevalence, incidence, and distribution across populations. It explores the disease's pathophysiology, highlighting the molecular mechanisms behind its development, and examines the diverse clinical manifestations and their impacts on patients. Additionally, the review evaluates current treatment approaches, synthesizing recent advancements to provide a comprehensive understanding. This review aims to offer researchers and health care professionals an updated perspective on managing NF effectively.

Study design: A narrative review of peer-reviewed literature for NF, the management of its associated pain, and quality of life for patients who have the condition.

Methods: The MEDLINE and Embase databases were reviewed to identify peer-reviewed research that discussed factors relevant to NF-related pain and its management.

Limitations: This narrative review is not systematic and focuses primarily on existing literature without presenting new data.

Conclusions: While advances have been made in understanding pain associated with NF, particularly for NF1, NF2, and schwannomatosis, significant gaps in treatment and understanding remain. Future research should prioritize targeted therapies and improved pain management strategies to enhance the quality of life for NF patients.