Neurofibromatosis Type 1 Treatment: Medication, Lifestyle Changes, and More

Neurofibromatosis type 1 (NF1) is a genetic condition that causes tumors to grow along nerves in the skin, brain, and other parts of the body. These tumors are usually noncancerous (benign), but they can sometimes cause medical problems depending on where they develop.

The tumors — called neurofibromas — can cause issues for the bones, eyes, and skin, leading to symptoms such as scoliosis (curved spine), changes in skin pigmentation, and café au lait spots (flat, light brown patches on the skin). About 1 in 3,000 people are born with NF1, making it one of the most common inherited neurological disorders.

While there is no cure for NF1, researchers have developed new treatments in recent years that can shrink tumors, ease symptoms, and improve quality of life.

There is no single treatment that works for all people with NF1. Care is individualized, since the condition can affect people in very different ways. The main goals are to monitor symptoms, treat complications as they arise, and improve daily functioning and well-being.

Historically, surgery and, in very rare instances, chemotherapy or radiation therapy were used to treat symptomatic or problematic tumors in patients with NF1, says Roy Strowd, MD, professor of neurology at Wake Forest University School of Medicine and codirector, Neurofibromatosis Clinic at Atrium Health Wake Forest Baptist.

“In the past several years, there has been a revolution and a paradigm shift in how we treat the tumors called plexiform neurofibromas in patients with NF1. The discovery of a type of targeted treatment called MEK inhibitors has changed how we treat NF1. This is a really exciting development that we hope will pave the way for even more treatments,” says Dr. Strowd.

Plexiform tumors are a type of slow-growing tumor that develops on the coverings of nerves and can sometimes reach very large sizes. While most are benign, about 15 percent can transform into malignant (cancerous) peripheral nerve sheath tumors (MPNSTs).

Approved MEK inhibitors include:

• Mirdametinib (Gomekli) This drug blocks MEK1/2, proteins in the mitogen-activated protein kinase (MAPK) pathway that drive uncontrolled cell growth when overactivated. In the phase 2B ReNeu trial, 41 percent of adults and 52 percent of children had tumor shrinkage. Patients also reported less pain and improved quality of life.

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• Selumetinib (Koselugo) Approved for children ages 1 and older, this drug targets the RAS/RAF/MEK pathway.

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  In trials, 68 percent of pediatric patients saw tumors shrink by 20 to 60 percent, with many reporting better mobility, less pain, and improved function.

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While selumetinib is not yet approved for adults, recent studies show tumor shrinkage in the majority of adult participants. A phase 3 trial is under way, and experts are hopeful that approval will follow.

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Surgery is sometimes needed to treat complications of NF1, particularly when tumors or bone problems interfere with function or cause pain. The type of surgery depends on the complication.

Tumor Removal

Some tumors may require surgical removal. If a tumor is growing quickly, causing pain, or pressing on important structures like the spinal cord or major nerves, surgery may be recommended to remove it.

Surgery may be recommended if:

• A tumor is growing quickly or pressing on nearby structures.
• Pain caused by the tumor is severe.
• There’s concern the tumor may become cancerous.

Even after surgery, ongoing monitoring is important, since NF1 tumors can recur, or new ones may form.

Orthopedic Surgery

Bone problems are among the most common complications of NF1. The two most common bone issues are scoliosis (spinal curvature) and tibial dysplasia, or bowing of the shin bone.

Scoliosis Children with NF1 may develop either nondystrophic scoliosis (which resembles the more common adolescent scoliosis) or dystrophic scoliosis (a more aggressive, degenerative form). 

Nondystrophic scoliosis may be treated with bracing or spinal fusion surgery if the curve is severe or progressive. Surgery usually involves realigning the spine with rods and screws and using bone grafts to help the bones fuse. 

Dystrophic scoliosis tends to worsen quickly, with sharp, angled curves and fragile bones. Because of the risks, surgeons often recommend operating early, before the spinal curve worsens even further.

Bracing usually doesn’t help dystrophic scoliosis, and spinal fusion surgery is more complex, with higher risks like poor bone healing. Bone grafts from the pelvis are often used to improve success.

Tibial Dysplasia This condition makes the tibia weak and prone to fractures, sometimes leading to pseudarthrosis, where the bone heals with fibrous tissue instead of bone. Tibial dysplasia may also cause one leg to be shorter than the other.

Treatments for tibial dysplasia can include:

• Bone grafting with an intramedullary rod (a metal rod placed inside the bone to strengthen and stabilize it)
• Limb lengthening surgery when there is a significant difference in leg length
• Corrective surgery to restore or improve walking function if the bowing interferes with mobility

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Plastic Surgery

In cases where tumors become cancerous or show aggressive growth, chemotherapy or radiation may be recommended to slow progression or reduce tumor size, especially if surgery isn’t an option.

“Our patients can experience a range of symptoms caused by neurofibromatosis type 1,” says Strowd, and for some of those symptoms, a variety of rehabilitation therapies can help.

Pain, mobility concerns, and sleep issues are a few of the several issues that a person with NF1 can struggle with, Strowd says. In some cases — for example, post-surgery, or if mobility, balance, or daily functioning is affected — physical, occupational, or speech therapy is necessary. In those situations, a broader multidisciplinary team coordinates to provide the best care, says Strowd. 

Physical and occupational therapy can help restore strength, improve coordination, and support independence after procedures such as tumor removal or amputation for pseudarthrosis. Therapists also work with people who experience weakness or chronic pain to adapt daily activities like cooking, dressing, or schoolwork.

Speech therapy is sometimes needed, since NF1 can cause speech and language issues linked to cranial nerve dysfunction. Speech therapy may improve communication and swallowing.

Children with NF1 are at higher risk for learning disabilities, attention deficit hyperactivity disorder (ADHD), and delayed speech. Speech therapy, occupational therapy, and physical therapy can help with speech articulation, motor coordination, and daily activities.

“People with NF1 will have the condition for their entire life. My goal when I am working with a patient is to think of all of the ways to help them to live and thrive with this condition,” says Strowd.

Exercise, diet, and sleep are three important ways to approach many of the common and the uncommon symptoms that can develop, he says.

These lifestyle changes may help both children and adults with NF1:

• Vitamin D supplementation, especially in people with low levels, will help protect bones.
• Physical activity — within safe limits — can help to maintain strength and improve coordination. Low-impact activities, flexibility exercises, and light strength training are typically recommended. The exercise should avoid any movements that could increase the chance of injury, fractures, or worsening of orthopedic problems. All exercise programs should be approved by the healthcare team prior to starting.
• Constipation is common in NF1 and can usually be managed with diet changes (fiber-rich foods, fluids) and gentle stool softeners.

People with NF1 need lifelong, yearly medical follow-up. Children require close monitoring for growth, development, and vision, while adults also need cancer screening, bone health checks, and support for pain and mood disorders. Early detection and proactive care can help prevent serious complications.

Checkups for Children With NF1

Yearly checkups for children with NF1 should include:

• Physical Exam A yearly checkup should include a full physical exam, growth measurements, blood pressure check, and skin checks for new or changing tumors. Plexiform neuromas, in particular, should be evaluated for changes in size, pain, or firmness, which could suggest malignant transformation.
• Eye Exams Eye doctors will screen for optic pathway gliomas, which are tumors that can affect vision.
• Check for Scoliosis and Other Bone Problems
• Development and Learning Assessment Evaluations should include speech, attention, and school progress.
• Puberty Evaluation Early puberty may be linked to brain tumors.

Checkups for Adults With NF1

For adults with NF1, yearly checkups should include:

• Ongoing Tumor Monitoring Adults should tell their doctor about new or worsening pain, rapid tumor growth, or changes in existing neurofibromas. MRI and sometimes PET scans are done if malignancy is suspected.
• Breast Cancer Screening Annual mammograms should start at age 30 in women with NF1, with breast MRI often added between ages 30 and 50.
• Blood Pressure All adults should have their blood pressure checked yearly, and more frequent testing is needed if hypertension develops before age 30, during pregnancy, or with symptoms to rule out vascular disease or pheochromocytoma, a rare tumor that forms in the middle of the adrenal gland.
• Annual Eye Exams Eye doctors will screen for optic pathway gliomas, which are tumors that can affect vision.
• Bone Health Checks This includes screening for osteoporosis and scoliosis progression.
• Mental Health Screening Adults with NF1 are at higher risk for mood disorders such as depression and anxiety.
• Chronic Pain Management New or worsening pain should always be evaluated, since it may signal tumor complications.
• Reproductive Counseling Prospective parents with NF1 should be aware that each of their children has a 50 percent chance of inheriting NF1. Once the NF1 pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.

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   Additionally, women with NF1 need high-risk pregnancy monitoring.

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• Nonsteroidal anti-inflammatory drugs (NSAIDs)
• Neuropathic Pain Medications Because NF1 pain often comes from nerve compression, doctors may use drugs that calm nerve signals, such as gabapentin (Neurontin), pregabalin (Lyrica), or duloxetine (Cymbalta), or antidepressants that also help nerve pain, such as amitriptyline.
• Opioids Morphine or oxycodone may be used for short-term relief in severe cases, but they’re usually avoided long term because of side effects and risk of dependence.

Medications alone often do not fully resolve pain in NF1, and researchers continue to look for other ways to alleviate pain in this population.

Living with neurofibromatosis type 1 (NF1) can bring more than just physical challenges. Many children and adults experience emotional or mental health concerns as well. Counseling and support services can play a key role in helping people cope and thrive. 

Adults with NF1 are at higher risk for depression, anxiety, and chronic pain, which can all impact quality of life. Screening for mood and emotional well-being should be a regular part of NF1 care.

• While there is no cure for neurofibromatosis type 1 (NF1), treatments like targeted MEK inhibitors, surgery, and supportive therapies can help shrink tumors, ease symptoms, and improve quality of life.
• Regular medical monitoring is essential for both children and adults, since NF1 can affect the skin, bones, eyes, and nerves, and some tumors may become cancerous.
• Lifestyle steps such as safe physical activity, vitamin D supplementation, adequate sleep, and a high-fiber diet can support overall health, alongside physical, occupational, and speech therapy when needed.
• Mental health counseling and support groups are important for coping with the emotional and social challenges of NF1, and research into future treatments like gene therapy offers hope for even better care ahead.