Diagnosis
To diagnose neurofibromatosis type 1 (NF1), a healthcare professional begins with a review of your personal and family medical history and a physical exam.
Your child's skin is checked for cafe au lait spots, which can help diagnose NF1.
Other tests needed to diagnose NF1 may include:
- Eye exam. An eye exam can reveal Lisch nodules and vision loss.
- Imaging tests. X-rays, CT scans or MRI scans can help identify bone changes, tumors in the brain or spinal cord, and very small tumors. An MRI might be used to diagnose optic gliomas.
- Genetic tests. Genetic testing for NF1 can help support the diagnosis. Genetic tests also can be done in pregnancy before a baby is born. Ask a member of your healthcare team about genetic counseling.
For a diagnosis of NF1, at least two symptoms of the condition must be present. A child who has only one symptom and no family history of NF1 is likely to be monitored for any other symptoms. A diagnosis of NF1 can be made by age 4.
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Treatment
There is no cure for neurofibromatosis type 1 (NF1), but symptoms can be managed. Generally, the sooner someone is under the care of a specialist trained in treating NF1, the better the outcome.
Monitoring
If your child has NF1, often yearly age-appropriate checkups are recommended to:
- Check your child's skin for new neurofibromas or changes in existing ones.
- Check for signs of high blood pressure.
- Check your child's growth and development. This includes measuring height, weight and head circumference to compare to growth charts for children who have NF1.
- Look for signs of early puberty.
- Look for any skeletal changes.
- Check your child's learning development and progress in school.
- Get a complete eye exam.
Adults with NF1 need screening tests that may include:
- Annual mammograms starting at age 30 to screen for breast cancer. Your healthcare professional may recommend a contrast-enhanced mammogram.
- Screenings for high blood pressure and related conditions.
- Yearly screenings for a curved spine, known as scoliosis.
- Imaging of plexiform neurofibromas, especially if there are symptoms, such as pain.
- Tests for a rare tumor that grows in an adrenal gland, known as a pheochromocytoma.
- Screenings for depression, attention-deficit/hyperactivity disorder (ADHD) and changes in thinking ability, known as cognitive impairment.
Adults who want to start a family can talk to a genetic counselor about the risks of passing the disease to a child.
Contact your healthcare team right away if you notice any changes in symptoms between visits. Many complications of NF1 can be treated effectively if therapy starts early.
Medications
Medicines have been approved by the U.S. Food and Drug Administration to treat tumors that grow in multiple nerves, known as plexiform neurofibromas. Selumetinib (Koselugo) has been approved to treat the tumors in children. Mirdametinib (Gomekli) has been approved to treat plexiform neurofibromas in both children and adults. The medicines can shrink the size of a tumor. Clinical trials of similar medicines are currently underway.
Surgery and other procedures
Surgery to remove tumors may be needed to treat serious symptoms or complications of NF1. Symptoms can be relieved by removing all or part of tumors that are compressing nearby tissue or damaging organs.
Cancer treatment
Cancers related to NF1 are treated with standard cancer therapies, such as surgery, chemotherapy and radiation therapy. Early diagnosis and treatment are the most important factors for a good outcome.
Potential future treatments
Researchers are testing gene therapies for neurofibromatosis type 1 (NF1). Potential new treatments could include replacing the NF1 gene to restore the function of the protein that affects cell growth, called neurofibromin.
Clinical trials
Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.
Coping and support
Living with neurofibromatosis type 1 (NF1) can be challenging. But many people live healthy lives with few, if any, complications.
To help you cope:
- Find a healthcare professional you can trust and who can coordinate your care with other specialists. If you're a parent of a child with NF1, the Children's Tumor Foundation has an online tool to help you find a specialist in your area.
- Join a support group for people with NF1. You might look for support groups for adults or children who have NF1, attention-deficit/hyperactivity disorder (ADHD), special needs or lifelong illnesses. If you're a parent, it may help to seek out other parents caring for children with NF1.
- Accept help for daily needs, if needed, such as cooking or cleaning.
- If your child has NF1 and has a learning disability, seek academic support.
Preparing for your appointment
You may be referred to a doctor who specializes in brain and nervous system conditions, known as a neurologist.
It's a good idea to be well prepared for your appointment. Here's some information to help you get ready and know what to expect.
What you can do
- Write down a list of concerns, making a note of when you first noticed them.
- Bring a complete medical and family history with you if your healthcare professional doesn't already have it.
- Write down key personal information, including any major stresses or recent life changes.
- Make a list of all medicines, vitamins or supplements that you or your child is taking.
- Bring photographs of any family members — living or deceased — who may have had similar symptoms.
- Write down questions to ask your healthcare professional.
Preparing a list of questions ahead of time can help you make the most of your time during your appointment. List your questions from most important to least important in case time runs out. For neurofibromatosis type 1, some basic questions to ask include:
- Do you suspect neurofibromatosis type 1?
- What tests do you recommend?
- What treatments are available?
- How should the condition be monitored for changes?
In addition to the questions that you've prepared, don't hesitate to ask others that come up during your appointment.
What to expect from your doctor
You'll likely to be asked a number of questions. Being ready to answer them may allow time later to cover other points you want to address. Your healthcare professional may ask:
- When did you first notice symptoms? Have they changed over time?
- Is there a family history of neurofibromatosis type 1?