What is Neurofibromatosis type 1 (NF1)?

From the Guidelines

Neurofibromatosis type 1 (NF1) is a genetic disorder that requires a multidisciplinary approach to management, with a focus on regular monitoring, symptom-specific treatments, and genetic counseling. NF1 is characterized by skin changes and growth of tumors along nerves in the skin, brain, and other parts of the body, and is typically diagnosed in childhood 1. Common symptoms include light brown spots on the skin (café-au-lait spots), freckling in the armpits or groin, small bumps on the iris (Lisch nodules), and soft tumors called neurofibromas. Management involves regular monitoring by a multidisciplinary team, including annual physical examinations, blood pressure checks, and vision screenings 1. Children should have developmental assessments as learning disabilities are common. There is no cure for NF1, but treatments focus on specific symptoms, such as surgery to remove problematic neurofibromas, especially if they cause pain or compression of vital structures 1. Selumetinib (Koselugo) is FDA-approved for children with symptomatic, inoperable plexiform neurofibromas. The condition is progressive but has variable expression, meaning symptoms and severity differ widely among affected individuals. Life expectancy is generally normal, though complications can arise from tumor growth in critical areas, and adults with NF1 may experience reduced life expectancy due to malignant neoplasms and cardiovascular causes 1. Genetic counseling is recommended for affected individuals planning to have children, as NF1 has a 50% chance of being passed to offspring.

Some key considerations in the management of NF1 include:

• Regular monitoring for ophthalmologic conditions, such as optic pathway gliomas, glaucoma, and plexiform neurofibromas involving the eyelid, orbit, periorbital and facial structures 1
• Developmental assessments for children, as learning disabilities are common 1
• Treatment of NF1-associated migraine, seizures, or sleep disorders as in the non-NF1 population 1
• Medication, physical therapy, and surgery (for compressive tumors) may be beneficial to NF1 neuropathy 1
• Screening and use of pain-interference scales may be useful, with referral to a pain clinic as needed, preferably those that employ both pharmacologic and non-pharmacologic approaches 1

Overall, the management of NF1 requires a comprehensive and multidisciplinary approach, with a focus on improving quality of life and reducing morbidity and mortality. The most recent and highest quality study recommends a clinical practice resource for the care of adults with NF1, which includes regular monitoring, symptom-specific treatments, and genetic counseling 1.

From the Research

Clinical Features of Neurofibromatosis Type 1

• Neurofibromatosis type 1 (NF1) is a complex genetic condition that affects multiple organ systems, including the central and peripheral nervous systems, skin, bones, visual system, and cardiovascular system 2, 3, 4.
• NF1 is characterized by a high degree of variability in clinical presentation, which may include multiple neoplasms, cutaneous, vascular, bony, and cognitive features 2, 4.
• The disorder can lead to pathology in various systems, drastically reducing a patient's quality of life (QOL) 3.

Diagnosis and Management of Neurofibromatosis Type 1

• Accurate diagnosis of NF1 is important for individualizing clinical care and genetic counseling 2.
• A multidisciplinary approach to care is essential for managing NF1, as it affects multiple organ systems and requires the expertise of various healthcare professionals 3, 5.
• The management of NF1 should involve a dedicated team of specialists throughout the patient's lifetime 5.
• Recent studies have led to the development of new therapeutic and preventive options, including tyrosine kinase inhibitors, mTOR inhibitors, interferons, and radiofrequency therapy 6.

Importance of Multidisciplinary Approach

• A multidisciplinary team (MDT) comprising healthcare professionals from various areas of expertise is crucial for addressing the multifaceted needs of NF1 patients 3.
• The MDT should be guided by an NF expert who collaboratively addresses the patient's needs and ensures comprehensive and personalized care 3.
• A multidisciplinary approach can significantly improve patient outcomes and overall QOL 3, 5.