Management of people with neurofibromatosis type 1

If neurofibromatosis type 1 (NF1) is suspected, the person should be referred to a geneticist for confirmation of diagnosis and Genetic counselling. Children with neurofibromatosis type 1 should be managed by local specialists (eg paediatrician, multidisciplinary team) in conjunction with their general practitioner (GP). Adults with neurofibromatosis type 1 can be managed by their general practitioner with referral to specialised services (eg plastic surgeon, dermatologist, ophthalmologist, neurologist, psychiatrist) as required. Complex cases should be referred to a neurofibromatosis type 1 clinic or multidisciplinary team who have experience with the conditioneviQ, 2019.

Patients with neurofibromatosis type 1 receive optimal care if they see the same clinician regularly, and if that clinician has expertise in disease surveillance for neurofibromatosis type 1 (see Preventive health and screening for people with neurofibromatosis type 1).

Although management of health problems for a person with neurofibromatosis type 1 is similar to that for the general population, input from specialist clinicians familiar with neurofibromatosis type 1 is helpful when interpreting neuroimaging (eg magnetic resonance imaging [MRI]), especially when considering the need for medical or surgical intervention. For example, even when optic nerve tumours are detected in patients with neurofibromatosis type 1, 50% of patients do not develop symptoms. Symptomatic optic nerve tumours are usually stable for many years, or only progress slowly; some lesions may even regress spontaneously.

Children with learning disorders or developmental delay may benefit from early intervention services and educational support; see Support and services for children with developmental disability and their family.

New or worsening pain should be investigated by imaging (MRI with or without positron emission tomography [PET] scan). Patients often benefit from referral to a pain management team as treatment of neuropathic pain may be complex; see Neuropathic pain.

Cutaneous neurofibromas can impose a cosmetic burden or cause tenderness, bleeding or itching; referral to a plastic surgeon may be appropriate. Surgery or laser ablation can be used to remove symptomatic lesions, but may be impractical when large numbers of neurofibromas are presentStewart, 2018.

For general advice on the role of the GP in supporting a person with developmental disability and their family or carers, see here.