Management of Neurofibromatosis Type 1 and 2

Introduction to Neurofibromatosis Management

The American College of Medical Genetics and Genomics recommends a multidisciplinary approach with specialized NF clinics, regular surveillance for tumor development, and targeted interventions for symptomatic manifestations, with selumetinib being FDA-approved specifically for symptomatic, inoperable plexiform neurofibromas in pediatric NF1 patients 1

Annual general medical evaluation should include assessment for signs and symptoms of malignant peripheral nerve sheath tumors, pheochromocytoma, neuropathy, depression, chronic pain, and pruritus 1, 2
Blood pressure monitoring at each visit to screen for hypertension, which could indicate pheochromocytoma or renovascular disease 1, 2
Clinical evaluation for scoliosis with Adam's forward bend test and referral to orthopedics if scoliosis is suspected 3
Consider baseline MRI of known or suspected nonsuperficial plexiform neurofibromas 1
For women with NF1, annual mammogram starting at age 30 and consideration of breast MRI with contrast between ages 30-50 due to increased breast cancer risk 1, 2
Treatment options for cutaneous neurofibromas include surgical excision, laser removal, or electrodesiccation based on physician and patient preference 4
Vitamin D supplementation is recommended to reach serum 25-hydroxyvitamin D concentrations in the sufficient range 3
Treatment of osteoporosis in NF1 follows the same guidelines as for the general population 3
Consider dual energy X-ray absorptiometry (DXA) to assess bone mineral density 1, 2

Bilateral vestibular schwannomas are the defining feature of NF2 6
Regular monitoring of hearing function and tumor growth with MRI is essential 6
Multiple meningiomas, ependymomas, and other central nervous system tumors are common in NF2 and require surveillance 6
Surgery is the primary clinical tool for management of vestibular schwannomas 6
Early interventional surgery may help preserve hearing in some cases 6
Cochlear implants or auditory brainstem implants are options for hearing loss 6

Educate adults with NF1 that, as an autosomal dominant disorder, the offspring recurrence risk is 50% for each pregnancy 1, 2
Preimplantation genetic diagnosis (PGD) and prenatal diagnosis of NF1 are available options 1, 2
Referral to a high-risk obstetrician should be considered for pregnant women with NF1 1, 2
Consider screening for depression in adults with NF1, with appropriate referral 4

Evaluation by and care coordination with a specialized NF clinic is strongly recommended 1, 2
The multidisciplinary team should include specialists in medical genetics, neurology, ophthalmology, oncology, and other relevant specialties based on patient needs 1, 2, 7
Patient education about worrisome signs and symptoms is essential for early detection of complications 1, 2