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Primary Care

Presentation: Patient with neurofibromatosis type 1

Neurofibromatosis type 1 is a multisystem genetic condition characterised by an early presentation of multiple café-au-lait macules and, later, benign growths known as neurofibromas.

At a glance:

  • Neurofibromatosis type 1 (NF1) is a neurocutaneous disease that predisposes those affected to both benign and malignant tumours. Clinical features depend on the patient’s age and vary significantly between individuals.
  • Children with NF1 are reviewed annually by paediatrics teams. Depending on clinical features, adults may be managed in primary care, by clinical genetics services or in one of two national specialist centres.
  • Females with NF1 have an increased risk of breast cancer and are eligible for breast screening from the age of 40.
  • Alert! Although rare, serious complications can develop. Adult patients should be advised regarding symptoms of malignant peripheral nerve sheath tumours, phaeochromocytoma and gastrointestinal stromal tumours.

Example clinical scenario

A 40-year-old woman with a background of NF1 presents for a routine review. She has not been followed up by her specialist team for several years.

Identifying those at risk of a genetic condition

  • NF1 is caused by pathogenic variants in the NF1 gene. It can occur de novo, in which case there many be no affected family members; however, it can also be inherited in an autosomal dominant pattern, which means that first-degree relatives of an affected individual (children, siblings, parents) have a 50% chance of also being affected.
  • NF1 is a multisystem condition that affects patients with age-related clinical features. In primary care, patients may present with café-au-lait macules, axillary or groin freckling and/or neurofibromas.

What should you do next?

  • If your patient does not have a formal diagnosis of NF1, refer them to either paediatrics (if the patient is a child) or clinical genetics (if the patient is an adult).
  • If the patient is planning a pregnancy, offer them a referral to clinical genetics to discuss reproductive options, such as preimplantation genetic diagnosis. Affected adults should be made aware of the 50% chance they have of passing the condition on to their children.
  • Ensure that affected women between the ages of 40 and 60 are under the care of their local breast unit for additional breast screening (mammography).
  • Ensure that affected adults have their blood pressure measured annually. If an adult patient is diagnosed with essential hypertension, initiate a referral as per the usual pathways to exclude secondary causes (such as phaeochromocytoma), regardless of age.
  • Adults affected by NF1 are more likely to be deficient in vitamin D. Advise adult patients to take regular supplements and/or have regular blood tests to check their vitamin D levels, depending on symptoms and local policy.
  • Advise affected adults to seek review urgently if any lumps enlarge quickly, become painful or firmer in texture, of if they develop any neurological symptoms or unexplained pain. Refer for investigation on an urgent basis to confirm or exclude malignant peripheral nervous sheath tumours, which can be subcutaneous or internal.
  • Signpost patients to support groups such as Nerve Tumours UK.
  • For information about how to arrange testing in Wales, Scotland or Northern Ireland, see our dedicated Knowledge Hub resource.
  • Information about patient eligibility and test indications were correct at the time of writing. When requesting a test, please refer to the National Genomic Test Directory to confirm the right test for your patient.

Resources

For clinicians

References:

For patients

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  • Last reviewed: 31/05/2023
  • Next review due: 31/05/2024
  • Authors: Dr Abdul Badran
  • Reviewers: Dr Jude Hayward

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