What are the current guidelines for managing pain and other symptoms associated with neurofibromas in patients with NF1?

Management of pain and symptoms associated with neurofibromas in neurofibromatosis type 1 (NF1) primarily involves a comprehensive assessment and tailored pharmacological and non-pharmacological approaches.

For neuropathic pain, which is common in neurofibromas, initial pharmacological treatment options include amitriptyline, duloxetine, gabapentin, or pregabalin. These should be offered as first-line treatments in non-specialist settings, with careful dosage titration and monitoring for effectiveness and adverse effects. If the initial drug is ineffective or not tolerated, switching to one of the other three drugs is recommended. Tramadol may be considered only for acute rescue therapy, not for long-term use. Capsaicin cream can be considered for localized neuropathic pain if oral treatments are unsuitable or not tolerated. Specialist referral should be considered at any stage if pain is severe, significantly limits daily activities, or if the underlying condition deteriorates ¹.

Regular clinical reviews are essential to assess pain control, impact on lifestyle and psychological wellbeing, adverse effects, and ongoing need for treatment. Withdrawal or switching of treatments should be done with appropriate tapering to avoid discontinuation symptoms ¹.

Non-pharmacological treatments, including physical and psychological therapies, may be offered through rehabilitation services, and surgery may be considered through specialist services if appropriate ¹.

Given the complexity of NF1 and neurofibroma-related symptoms, referral to specialist pain services or condition-specific services is advised for optimal management ¹.