Screenings for adults with neurofibromatosis type 1

The main guidance

In Europe, the 2023 ERN GENTURIS guideline sets out tumour surveillance for people with NF1. It says it reflects current NF1 care in Europe, is not meant to be prescriptive and may be adjusted to the resources of the treating centre. (ERN GENTURIS, 2023) In the US, the ACMG says many issues in adults with NF1 can be managed by an internist or family physician, and strongly encourages evaluation by, and care coordinated with, a specialised NF1 clinic. (ACMG, 2018) The NHS says you will be supported by different professionals, which may include a brain specialist, an eye specialist and a skin specialist. (NHS)

Checks the guidance lists

Check	When	Source
Review by NF1 experts	Adults: at least once every 3 years (ERN GENTURIS); at least once a year (NHS)	(ERN GENTURIS, 2023)(NHS)
Skin and nerve tumour check, with questions about pain, growth and new nerve symptoms	Every visit	(ERN GENTURIS, 2023)
Breast MRI (mammogram if MRI is not available)	Women: every year from soon after 30 to 50, then the general programme	(ERN GENTURIS, 2023)
Mammogram	Women: every year from 40 (NHS)	(NHS)
Blood pressure	Every year	(NHS)(MedlinePlus encyclopedia)
Eye check	Adults: every 2 years (NHS); in the yearly checkup (MedlinePlus)	(NHS)(MedlinePlus encyclopedia)
Whole-body MRI	At least once, around the move from childhood to adulthood	(ERN GENTURIS, 2023)
Brain MRI with contrast	Considered around the move from childhood to adulthood, and with new symptoms	(ERN GENTURIS, 2023)
Check of the back (spine)	In the yearly checkup	(MedlinePlus encyclopedia)

Breast screening

The ERN GENTURIS guideline recommends yearly breast MRI as the main approach, with mammography as the second best option when MRI is not available. It says screening should begin as soon after age 30 as is feasible in the local health system and continue until 50, after which it follows the national guideline for the general population. It also says it is probably safer not to use mammography, although the radiation dose is low, and that education about breast self-examination probably should be given to raise awareness. (ERN GENTURIS, 2023) The NHS says women with NF1 should have a mammogram each year from the age of 40, and lists breast cancer among the cancers with a higher risk in NF1. (NHS) The ACMG lists breast cancer among the common problems in adults with NF1. (ACMG, 2018) See breast cancer screening, mammogram: what to expect and dense breasts.

Blood pressure

The NHS says blood pressure should be checked every year and lists high blood pressure among the problems NF1 can lead to. (NHS) MedlinePlus lists high blood pressure due to an adrenal tumour (pheochromocytoma) or a narrowed kidney artery among the complications, and blood pressure in the yearly checkup. (MedlinePlus encyclopedia) The ERN GENTURIS guideline does not recommend routine blood or urine screening for phaeochromocytoma in everyone with NF1, but says these tests should be done in anyone with NF1 who has raised blood pressure without another medical reason. (ERN GENTURIS, 2023) See blood pressure readings: what they mean.

Skin and nerve checks

The ERN GENTURIS guideline recommends a clinical check for skin neurofibromas and for larger plexiform neurofibromas at every visit, and a whole-body MRI at least once around the move from childhood to adulthood to see how many tumours there are inside the body. It says repeat scans are decided person by person by the care team, and that if the scan shows no internal neurofibromas, clinical checks alone are enough. (ERN GENTURIS, 2023)

The guideline lists the signs that should lead to tests for a malignant peripheral nerve sheath tumour (MPNST): a fast increase in size of an existing plexiform neurofibroma, new and persistent pain, pain at night or pain that is hard to control, new weakness or loss of feeling linked to a neurofibroma or nerve (including bladder, bowel, swallowing or breathing problems), and a hard lump in a previously soft plexiform neurofibroma. It lists the groups at higher risk, including people with large or many plexiform neurofibromas, earlier radiotherapy, or a relative with NF1 and MPNST. (ERN GENTURIS, 2023) The ACMG says teaching people to notice worrying signs, such as progressive severe pain, change in tumour size and new unexplained nerve symptoms, is important. (ACMG, 2018) See skin checks by age.

Eyes, brain and spine

The NHS says adults with NF1 should have their eyes checked every 2 years, and children every year. (NHS) MedlinePlus lists the eyes in the yearly checkup and says tests may include an eye exam by an ophthalmologist familiar with NF1. (MedlinePlus encyclopedia) The ERN GENTURIS guideline recommends yearly vision screening until the move from teenage to adult care. (ERN GENTURIS, 2023) See eye exams by age.

For brain tumours in adults, the ERN GENTURIS guideline recommends a check for signs at every visit, such as new or changed seizures, new or unusual headache and new weakness, and says a brain MRI with contrast should be considered for everyone with NF1 around the move from childhood to adulthood, and done after new symptoms. (ERN GENTURIS, 2023) MedlinePlus lists the back and nervous system in the yearly checkup and scoliosis among the complications. (MedlinePlus encyclopedia) See scoliosis screening.

Checks for relatives

The NHS says that if you have NF1, there is a 1 in 2 chance of passing the gene on to any children you have, and that a child can also be born with NF1 when neither parent has the altered gene. (NHS) MedlinePlus recommends genetic counselling for anyone with a family history of NF1. (MedlinePlus encyclopedia) See family history and screening.

Routine age-based screening

The USPSTF recommends blood pressure screening for all adults 18 and older. (USPSTF blood pressure, 2021) Its breast screening recommendation, a mammogram every 2 years from 40 to 74, does not apply to people with a genetic marker or syndrome linked to a high risk of breast cancer. (USPSTF breast, 2024) Self-pay whole-body MRI for people without a condition like NF1 is a different thing; see full-body MRI screening.

When to contact a provider

MedlinePlus, Neurofibromatosis-1, when to contact a medical professional: (MedlinePlus encyclopedia)

Contact your provider if:

You notice multiple coffee-with-milk colored spots on your child's skin or any other symptoms of this condition.
You have a family history of NF1 and are planning to have children, or you would like to have your child examined.

The NHS says to ask for an urgent GP appointment or get help from NHS 111 if you keep getting headaches that do not go away or are getting worse, keep feeling or being sick, or have blurred vision or vision loss. (NHS)

Where they differ:

Breast screening age and test. The ERN GENTURIS guideline recommends yearly MRI from soon after 30 until 50, (ERN GENTURIS, 2023) the NHS says a yearly mammogram from 40, (NHS) and the USPSTF general schedule of a mammogram every 2 years from 40 does not apply to high-risk genetic syndromes. (USPSTF breast, 2024)
How often to see a specialist. The NHS says at least once a year and MedlinePlus a yearly checkup, (NHS)(MedlinePlus encyclopedia) while the ERN GENTURIS guideline sets a minimum of once every 3 years for adults, as a weak recommendation. (ERN GENTURIS, 2023)
Eye checks. The NHS says every 2 years for adults, MedlinePlus includes the eyes in a yearly checkup, (NHS)(MedlinePlus encyclopedia) and the ERN GENTURIS guideline sets yearly vision screening only up to the move into adult care. (ERN GENTURIS, 2023)
Strength of the evidence. The ERN GENTURIS guideline grades its breast MRI advice as moderate and its whole-body MRI advice as weak, and says its recommendations are not meant to be prescriptive. (ERN GENTURIS, 2023)

Your doctor decides what your result means for you.

Questions people ask

When should women with NF1 start breast screening?

The ERN GENTURIS 2023 guideline recommends yearly breast MRI starting as soon after age 30 as the local health system allows, with mammography as the second best option when MRI is not available, until 50, and then the general population programme. The NHS says women with NF1 should have a mammogram each year from the age of 40. (ERN GENTURIS, 2023) (NHS)

Does the USPSTF breast screening advice apply to women with NF1?

The USPSTF recommends a mammogram every 2 years from 40 to 74, but says its recommendation does not apply to people who have a genetic marker or syndrome linked to a high risk of breast cancer. Women with NF1 follow the schedule their NF1 team sets. (USPSTF breast, 2024) (ERN GENTURIS, 2023)

How often should blood pressure be checked in NF1?

The NHS says blood pressure should be checked every year, and MedlinePlus lists blood pressure in the yearly checkup. The ERN GENTURIS guideline says anyone with NF1 who has raised blood pressure without another medical reason should have tests for an adrenal tumour called phaeochromocytoma. (NHS) (MedlinePlus encyclopedia) (ERN GENTURIS, 2023)

How often do adults with NF1 need a specialist review?

The NHS says a check-up at least once a year, and MedlinePlus lists a yearly checkup of the eyes, skin, back, nervous system and blood pressure. The ERN GENTURIS guideline sets a minimum of one review by NF1 experts every 3 years in adults, with more frequent reviews around the move from teenage to adult care. (NHS) (MedlinePlus encyclopedia) (ERN GENTURIS, 2023)

Do adults with NF1 need a whole-body MRI?

The ERN GENTURIS guideline says a whole-body MRI should be done at least once, around the move from childhood to adulthood, to see how many tumours there are inside the body, and that repeat scans are decided person by person. It calls this a weak recommendation. It also says a brain MRI should be considered at the same age. (ERN GENTURIS, 2023)