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Supporting children, young adults and their families up to the age of 30

Supporting children, young adults and their families up to the age of 30

Information for Health Care Professionals

Through our research, in partnership with the Patient Led Research Hub – University of Cambridge, we have found that many healthcare professionals struggle to access clear guidelines on Neurofibromatosis Type 1 (NF1), as there are currently no dedicated NICE guidelines. To address this gap, we aim to simplify the process of caring for individuals with NF1 by providing access to comprehensive resources, including the ERN Genturis guidelines. While these are European guidelines and some recommendations may differ in the UK, they represent the most thorough and reliable guidance currently available.

Diagnostic criteria for Neurofibromatosis Type 1 (NF1)

A diagnosis of NF1 can be given if an individual has two or more of the following manifestations:

A pathogenic NF1 gene variant**

**Additional Genetic Criteria Updates:
  • The term “mutation” is no longer accepted; pathogenic variant is now the preferred term.
  • Genetic analysis is not REQUIRED for diagnosis but may allow for an earlier diagnosis.
  • Genetic analysis ALONE is not sufficient to diagnose NF1 – diagnosis requires a second diagnostic feature of NF1.

A parent with NF1 based on diagnostic criteria

*At least one of the two pigmentary findings (café-au-lait macules or freckling) should be bilateral.

Glossary

Anterolateral bowing of tibia is a curving of a bone in the leg
Café-au-lait macules, also called café-au-lait spots, are flat darkened areas on the skin
Choroidal abnormalities are problems with the vascular layer of the eye (the choroid)
Dysplasia means abnormal growth
Lisch nodules are small tan or brown bumps on the surface of the iris in the eye
Neurofibroma is a tumor that forms on a nerve cell sheath
Osseous lesion is a problem with a bone that is not due to injury
Optic pathway glioma is a tumor of the visual pathway
Pseudarthrosis is a condition that occurs when the bones in the leg do not heal correctly
Sphenoid is a bone near the base of the cranium behind the eye

Guidelines

Download the ERN NF1 Guidelines
Download the Plain Language Summary

Specialist centres

Read about the UK specialist centres for NF1

Take a free CPD module to recognise NF1

Stay tuned for updates as we continue to expand this resource. Our goal is to empower healthcare professionals with the tools and knowledge to provide informed care.