Neurofibromatosis Type 1 Research Explores Patient Experiences With Pain

Published on: 

Other than surgery and medications, including opioids, there are few options for treating pain symptoms, which affect more than half of all patients with neurofibromatosis type 1.

Researchers recently reported on the results of a survey of patients with neurofibromatosis type 1 (NF1), a rare neurogenetic disorder causing benign and malignant tumors as well as pain that limits daily functioning.

NF1 affects men and women in equal numbers and affects all races and ethnic groups. It is estimated to occur in 1 in 2500 to 3000 births. NF1 is an autosomal dominant genetic condition; half of all cases arise de novo with a known family history of the disorder.

Other than surgery and medications, including opioids, there are few options for treating pain symptoms, which affect more than half of all patients. in addition, the spectrum of pain symptomatology and treatment, as well as the mechanisms underlying NF1-associated pain, have been understudied. Patients have treatment and quality-of-life challenges, as the pain is often not localized to a specific tumor.

Using the Washington University NF1 Patient Registry Initiative (NPRI) database, researchers conducted a survey of 255 adults, with the goal of identifying pain experience and symptoms, evaluating its impact on function, and determining the prevalence and complementary treatment modalities to reduce pain symptoms. Demographic and pain data were collected using a Qualtrics survey.


The survey found that all participants had at least 1 surgical procedure, with 55% reporting having at least 1 surgery within the last year and 17% being currently prescribed opioid medication.

There was a positive relationship (P <.001) between those prescribed pain medication and their pain severity and interference. Moreover, there was a significant relationship (P = .049) between the usage of complementary treatments and pain severity and interference.

The results show that individuals with NF1 report a higher incidence of pain severity and interference than observed in previous studies. The researchers wrote that the results highlight some salient points about NF1.

Women reported higher pain interference than men, although men reported higher pain severity than women. In addition, many of the patients who were experiencing pain had been dealing with these symptoms for more than 11 years and reported higher pain thresholds, indicating pain chronicity. Multiple regions of their body were affected with NF1 tumors.

The fact that tumor-related pain currently is primarily managed by surgery can be problematic, the authors wrote, given that NF1 tumors are located by nerve tissues or other vital structures and tumor regrowth following surgery is common. They noted that 43% of respondents reported complications from all surgical procedures, with a majority of those suffering permanent weakening of physical abilities following the surgery, permanently affecting their activities of daily living and their quality of life.

Seventeen percent were actively taking opioids to manage pain symptoms, comparable to the national average of 20%. Individuals taking opioids reported higher levels of pain severity and interference relative to those who were not prescribed these medications. Patient access to and knowledge of alternative treatments are needed, the researchers said.

Complementary treatments, such as yoga, massage therapy, and physical therapy, were shown to be effective with improvements in pain thresholds relative to non—evidence-based treatments, the authors wrote. These may improve pain management and reduce the risk of developing opioid dependence.


Buono FD, Grau LE, Sprong ME, Morford KL, Johnson KJ, Gutmann DH. Pain symptomology, functional impact, and treatment of people with neurofibromatosis type 1 [published online August 22, 2019]. J Pain Res. doi: 10.2147/JPR.S209540.