<p>Pain symptomology, functional impact, and treatment of people with Neurofibromatosis type 1</p>

Abstract

IntroductionNeurofibromatosis type 1 (NF1) is a neurogenetic disorder affecting 1 in 3000 people worldwide, where individuals are prone to develop benign and malignant tumors. In addition, many people with NF1 complain of pain that limits their daily functioning. Due to the complexity of the disorder, there are few options for treating pain symptoms besides surgery and medications. Moreover, the spectrum of pain symptomatology and treatment, as well as the mechanisms underlying NF1-associated pain, has been understudied.MethodologyTo address this knowledge gap, we conducted a survey of 255 adults with NF1, leveraging the Washington University NF1 Patient Registry Initiative (NPRI) database. Demographic and pain data were collected using a Qualtrics survey.ResultsAll participants had at least one surgical procedure, with 55% reporting having at least one surgery within the last year and 17% being currently prescribed opioid medication. A positive relationship was shown (p<0.001) between those prescribed prescription pain medication, and their pain severity and interference. Moreover, there was a significant relationship (p=0.049) between the usage of complementary treatments and pain severity and interference.ConclusionThe current study demonstrates that individuals with NF1 report a higher incidence of pain severity and interference than observed in NF1 previous studies, with pain symptoms not localized to any specific region of the body. The consideration for alternative treatments and careful monitoring of current treatments that are more conservative or have less potential adverse side effects may improve pain management and reduce the risk of developing medication dependence.

Efficacy of Cannabinoids on Spasticity and Chronic Pain in a Patient with Co-occurrence of Multiple Sclerosis and Neurofibromatosis Type 1

“…The pathophysiology of pain in MS includes pain directly related to the brain and spinal inflammatory lesions, with central pain due to corticospinal system disinhibition and/or chronic activation of nociceptive afferents. Pain may also be secondary to complications of the disease, such as spasticity and contractures, or as a side effect of chronic treatment (i.e., steroids, interferon beta, glatiramer acetate) [2] . On the other hand, NF1 patients may experience pain due to scoliosis and skeletal alterations, or secondary to spinal schwannomas or other tumours such as abdominal neoplasms [2][3][4] .…”

“…Pain may also be secondary to complications of the disease, such as spasticity and contractures, or as a side effect of chronic treatment (i.e., steroids, interferon beta, glatiramer acetate) [2] . On the other hand, NF1 patients may experience pain due to scoliosis and skeletal alterations, or secondary to spinal schwannomas or other tumours such as abdominal neoplasms [2][3][4] . Moreover, a high percentage of individuals with NF1 report significant daily chronic pain and diffuse discomfort, often not localized to a specific structural lesion or abnormalities, presenting treatment challenges for the clinician [2,3] .…”

“…At the moment, pain in NF1 patients is probably an underestimated problem. The pathophysiology has not yet been completely elucidated [3,4] , but an American survey of 255 NF1 patients showed a high prevalence of chronic pain particularly in patients undergoing tumour removal surgery, but with the pain not necessarily being located in the area of surgery, and only 7% of participants having plexiform tumours [2] . The areas most affected with pain were the limbs, particularly the arms [2] .…”

“…The pathophysiology has not yet been completely elucidated [3,4] , but an American survey of 255 NF1 patients showed a high prevalence of chronic pain particularly in patients undergoing tumour removal surgery, but with the pain not necessarily being located in the area of surgery, and only 7% of participants having plexiform tumours [2] . The areas most affected with pain were the limbs, particularly the arms [2] . There are few reports on the use of pharmacological treatment for NF1, with opioids being the most used [2,3] and only one study reporting one single patient with NF1 treated with cannabinoids [5] , although the use of cannabinoids in cancer patients is currently a hot topic.…”

“…The areas most affected with pain were the limbs, particularly the arms [2] . There are few reports on the use of pharmacological treatment for NF1, with opioids being the most used [2,3] and only one study reporting one single patient with NF1 treated with cannabinoids [5] , although the use of cannabinoids in cancer patients is currently a hot topic. Several scales and patient-reported outcomes (i.e., VAS) may be used to assess chronic pain, and are particularly recommended in both clinical practice and research contexts to determine symptom variation over time [2] .…”