Preventive health and screening for people with neurofibromatosis type 1

eviQ, 2019Friedman, 1993Miller, 2019Stewart, 2018

The mainstays of care for patients with neurofibromatosis type 1 (NF1) are anticipatory guidance, early detection and symptomatic treatment of disease complications; see Clinical characteristics of neurofibromatosis type 1 for clinical characteristics. This is achieved through regular medical review, at least once a year for children and adults. Review should be more frequent if the patient has active medical complications.

Each regular medical review of a person with neurofibromatosis type 1 should include:

  • medical history, with a focus on symptoms associated with neurofibromatosis type 1 (eg pain, visual complaints, progressive neurological deficits, seizures, headaches, bothersome cutaneous fibromas, depression)
  • physical examination (especially cutaneous, skeletal and neurological systems):
  • ophthalmological evaluation (including slit lamp examination of the irises) at least once a year for all children with neurofibromatosis type 1, up to the age of 12 years
  • developmental assessment (of children):
    • annual review should include a developmental history and review of school progress
    • if any areas of concern are identified, refer for a formal educational assessment (see Specialist assessment)
  • family planning or contraception (and referral for genetic counselling) if needed.

People with neurofibromatosis type 1 should have standard preventive health screening as for the general population (see the Royal Australian College of General Practitioners [RACGP] Guidelines for preventive activities in general practice).

With the exception of breast screening, routine screening with magnetic resonance imaging (MRI) (eg for neurofibromas) or audiology is not indicated. Annual breast screening is recommended for women with neurofibromatosis type 1 from 35 years of age because they have increased risk of breast cancer (see the eviQ website for screening recommendations).

Discussion of the risk of disease complications with a patient, or parent of a child with neurofibromatosis type 1, can give some perspective on the disorder and relieve unwarranted anxiety. The risk of complications changes at different ages. For example, a child aged 10 years is unlikely to develop significant cosmetic disfigurement from a plexiform neurofibroma, or visual loss from an optic glioma. However, their spine must be monitored during puberty for evidence of scoliosis, and cutaneous neurofibromas are likely to appear during adolescence.