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 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:
There are a number of genetics and other multidisciplinary specialist clinics held weekly in the Genetics Out Patient Department, 6th Floor, St Mary’s Hospital. There are a limited number of satellite clinics currently held in the North East, Sheffield and Leeds area. The service also runs a monthly peripheral radiology and neuroradiology MDT meeting where scans are reviewed.
Prior to the clinic appointment you may receive a telephone call from one of the clinical nurse specialists to discuss your referral, take a family and medical history and find out if you have had any relevant investigations such as scans that it would be relevant to have reviewed prior to your appointment.
Your appointment will last 45 minutes during which you may see one or more of the multidisciplinary team including a nurse specialist. You will be asked in more detail about your medical and family history and any current symptoms. The doctor will ask your permission to perform a general, neurological and skin examination which may require you to undress to your underclothes but a blanket will be provided.
Your appointment will last 45 minutes during which you may see one or more of the multidisciplinary team including a nurse specialist. You will be asked in more detail about your medical and family history and any current symptoms. The doctor will ask your permission to perform a general, neurological and skin examination which may require you to undress to your underclothes but a blanket will be provided.
We have dedicated clinics for children with paediatric doctors and nurses.
Interpreters can be arranged for the consultation if required.
Following the clinic a summary letter will be sent to any relevant medical professionals including your GP and you will be given a contact card for the NF1 nurse specialists. We may also need to order some blood tests or scans or refer you to be seen in one of the other specialist clinics.
There are a number of educational/support events under development within the service. Please contact the NF1 nurse specialists for more information on 0161 701 2043.
Criteria for referral to national complex neurofibromatosis 1 service
NF1_review_checklist_
- Brain glioma, glial neoplasm
- Spine glioma
- DNETOnly enter if diagnosis made on neuroimaging. Do not regard as complex if histology available
- Optic pathway glioma
- All children first 2 years following diagnosis
- Children and adults who have had:
- Chemotherapy or radiotheraphy
- Significant learning problems
- Neurovascular / neuro-inflammatory disease that threatens vision / overlaps with OPG
- Multiple sclerosis
- Cord compression or cauda equina compression
- NF1 Neuropathy
- Symptomatic neurofibromas
- Neurofibromas that cause one or more of:
- Persistent pain / nocturnal pain
- Rapid growth
- Change in texture
- New or unexplained neurological deficit and require FDG PET CT
- Symptomatic neurofibromas causing significant:
- Neurological deficit
- Impaired respiratory function
- Impaired sphincter function
- Haemorrhage
- Severe infection
- Limb overgrowth
- Extensive internal neurofibromas / extensive skull base / facial neurofibromas
- Atypical neurofibromas Diagnosed on histology
- MPNST Current or past history
- Sarcoma Includes rhabdomyosarcoma, bone sarcoma
- Counselling for Segmental NF1
- Pseudarthrosis Record on first visit or initial diagnosis only
- Unusual NF1 phenotype Includes only:-
- GIST
- Phaeochromcytoma
- Juvenile myelomonocytic leukaemia
- Other malignancy (e.g. thyroid)
- Breast cancer <50 years at diagnosis
- Whole gene deletion
- Severe kyphoscoliosis with respiratory impairment
Making a referral
Referrals can be directed to Dr G Vassallo, Dr Emma Burkitt-Wright, and Dr Ealing.
Complex NF1 clinic
Genomic Medicine
6th Floor, St Mary’s Hospital
Oxford Road
Manchester
M13 9WL
For advice regarding a referral please contact the NF1 secretaries, telephone 0161 701 0981, or NF1 nurse specialists, telephone 0161 701 2043.
Urgent referrals where malignant peripheral nerve sheath tumor is suspected will be triaged and seen within a two-week period. Non-complex NF1 referrals can be made for regional patients and will be seen in the general genetics clinics.
