Neurofibromatosis Type 1

A holistic state of the art service for all complex NF1 patients with multidisciplinary expertise.

Neurofibromatosis 1 (NF1) is an inherited neurocutaneous disease that predisposes affected individuals to the development of benign and malignant tumours. The disease mainly involves the skin and nervous system but people with NF1 can develop a wide range of rare complications.

As the clinical manifestations of complex NF1 are uncommon, two specialist centers have been nationally commissioned: St Mary’s, Manchester, led by Dr G Vassallo, and Guys and St Thomas’s, London, led by Professor Ros Ferner. The role of the National Complex NF1 service is to coordinate care for NF1 patients with complex complications and to provide expert diagnosis, including mutation testing for unusual NF1 phenotypes. We also provide effective monitoring of patients and maintain close links with all major hospitals in the North to facilitate optimum management. The service aims to provide patient and family centered care to maximize the patient’s experience within the nationally designated providers. The nationally commissioned services are seen as the leading clinical services and source of expert advice for the diagnosis and management of complex NF1 and complications within the NHS.

The service has a keen interest in Research and is able to fulfill this role as part of the Manchester University NHS Foundation Trust.

The service provides multidisciplinary outpatient services in order to:

  1. Work up NF1 patients with suspected complex complications of the disease and give accurate diagnosis of unusual phenotypes or diseases that appear to be NF1 but aren’t, through genetic testing, supported with counselling and onward referral and signposting patients to appropriate services.
  2. Coordinate care where complicating diseases behave differently in NF1 compared with the general population.
  3. Monitor risk of malignancy and progression of tumours.

The service consists of a multidisciplinary team of senior clinicians. In addition, the team has strong links with other disciplines and units that may be needed to provide care for patients with complex NF1. The multidisciplinary team consists of a neurologist (adult and paediatric), geneticists (including genetics counselling), clinical nurse specialists and a psychologist. There are formal links to:

  • Neurosurgery (adult and paediatric)
  • Spinal surgery
  • Plastic surgery
  • Oncology (adult and paediatric)
  • Ophthalmology
  • Neuropsychiatry
  • Neuroncology
  • PET
  • Radiology (Musculoskeletal and Neuroradiology)
  • Peripheral Nerve Surgery
  • Sarcoma Units
  • Orthopaedic units.