Videos

Multidisciplinary NF1 Care, Emerging Therapies, and Long-Term Family Planning Considerations

ByP. Leia Nghiemphu, MD,Christopher Moertel, MD

In this segment, the physicians emphasize the importance of multidisciplinary care in managing the complex, lifelong needs of patients with NF1. One physician describes how comprehensive NF programs rely on coordinated input from neurology, ophthalmology, orthopedics, pulmonology, urology, endocrinology, dermatology, nephrology, neurosurgery, and psychosocial specialists to address the diverse medical and cognitive challenges associated with the condition. They highlight the essential role of neuropsychology, noting that many patients require ongoing assessment, educational support, and accommodations—services that are often harder to access in adulthood. The discussion then shifts to emerging treatments for plexiform neurofibromas. While MEK inhibitors remain the current standard, ongoing research is exploring combination therapies and novel agents with lower toxicity to reduce long-term treatment burdens. Finally, the physicians stress the need for proactive conversations about fertility, pregnancy safety, and “drug vacations” for young adults hoping to start families. They underscore the importance of genetic counseling and careful planning to balance treatment efficacy with reproductive goals.

Individualized MEK Inhibitor Dosing Strategies for NF1-PN

ByP. Leia Nghiemphu, MD,Christopher Moertel, MD

In this segment, the physicians discuss how MEK inhibitor dosing differs between pediatric and adult patients with NF1-associated plexiform neurofibromas. One physician explains that children are typically dosed using weight-based or body surface area–based calculations, whereas adults receive standard fixed dosing. However, both physicians emphasize that individualized dosing is often necessary regardless of age. They describe how starting at a lower-than-recommended dose can reduce early side effects—an approach particularly valuable for adults who may discontinue treatment if initial tolerability is poor. The physicians note that some patients achieve meaningful clinical benefits, including pain reduction, even at these reduced doses, eliminating the need to escalate therapy. They highlight that dose adjustments should reflect patient goals, symptom severity, and overall tolerability, especially because many adults are treated primarily for pain relief rather than rapid tumor progression. Both clinicians acknowledge that while these modified approaches deviate from strict guidelines, they are widely practiced and often improve adherence and quality of life.

Adult NF1 Care, Health Maintenance, and Treatment Adherence Challenges

ByP. Leia Nghiemphu, MD,Christopher Moertel, MD

In this segment, the physicians explore the broad health maintenance needs and everyday challenges faced by adults with NF1 as they move further into their twenties and thirties. One physician notes that, beyond cancer surveillance, adults must manage cutaneous neurofibromas, increasing vascular risks, recurrent headaches, and hypertension—conditions that may signal vasculopathy or serious complications such as pheochromocytoma. The discussion highlights the importance of regular blood pressure monitoring and educating patients that even mild hypertension should not be ignored in the NF1 population. They also address treatment adherence, emphasizing that adults may discontinue MEK inhibitor therapy at the first sign of side effects, unlike pediatric patients whose parents manage their care. Clear expectations, proactive side-effect management, and structured “treatment contracts” help sustain adherence. Cognitive challenges—including ADHD, executive dysfunction, and intellectual disability—further complicate adult independence, employment, and insurance continuity. The physicians underscore the need for ongoing healthcare engagement, even when symptoms seem minimal, because NF1 remains a lifelong condition requiring continuous surveillance.

Transitioning NF1 Care From Childhood to Adulthood

ByP. Leia Nghiemphu, MD,Christopher Moertel, MD

In this segment, the physicians explore the challenges and priorities involved in transitioning patients with NF1 from pediatric to adult care. One physician describes how his center follows patients from infancy through adulthood, while noting that many institutions must formally transition patients to adult providers. They emphasize that adult NF1 management requires a shift in focus: during childhood and adolescence, the primary goal is supporting school success and monitoring for complications such as optic pathway gliomas, plexiform neurofibromas, and spinal cord compression. After age 18, however, additional adult-onset risks emerge, including cutaneous neurofibromas, malignant peripheral nerve sheath tumors, and significantly increased breast cancer risk in women beginning around age 30. The conversation highlights the importance of comprehensive screening—often with full head-to-toe MRI—to establish a clinical baseline during transition. Yet many adults arrive without prior imaging or education about NF1-related risks, requiring providers to deliver extensive counseling on surveillance and long-term disease management.

NF1-Related Ophthalmologic Risks and Imaging Practices in Early Childhood

ByP. Leia Nghiemphu, MD,Christopher Moertel, MD

In this segment, the physicians discuss the broader spectrum of ophthalmologic issues seen in patients with NF1, particularly during early childhood. One physician explains that the first five to six years of life represent the highest-risk period for developing optic pathway gliomas, tumors driven by the same RAS–MEK pathway that contributes to plexiform neurofibroma formation. He emphasizes that careful ophthalmologic evaluation, especially visual acuity testing, remains the most effective method for detecting symptomatic optic gliomas. If visual concerns arise, MRI imaging is pursued to confirm or rule out these tumors. The physicians also address evolving perspectives on preventive imaging. They note that routine baseline brain MRIs are generally discouraged in very young children due to the need for sedation and the associated stress and risks for families. Instead, imaging is recommended only when clear clinical indicators exist. One physician describes his practice of obtaining a screening MRI around age 18 to support patients transitioning into adulthood, though this approach is not yet a formal standard.