Assessment of a Patient with Neurofibromatosis on First Visit
The first visit assessment of a patient with neurofibromatosis should include a comprehensive diagnostic approach with dermatologic examination for café-au-lait spots and neurofibromas, ophthalmologic examination for Lisch nodules, neurologic assessment, skeletal evaluation for scoliosis, and blood pressure measurement to detect hypertension. 1
Medical History Assessment
- Signs and symptoms of:
- Malignant peripheral nerve sheath tumor (MPNST)
- Pheochromocytoma
- Neuropathy
- Depression
- Chronic pain and pruritus
- Fingertip pain
- Bothersome/symptomatic cutaneous neurofibromas
- Family planning/contraception needs (and referral for genetic counseling if needed) 2
Physical Examination
- Dermatologic examination:
- Café-au-lait spots
- Axillary/inguinal freckling
- Cutaneous and subcutaneous neurofibromas
- Blood pressure measurement
- Clinical evaluation for scoliosis with Adam's forward bend test
- Ophthalmologic examination for Lisch nodules and optic pathway gliomas
- Neurologic assessment for signs of central or peripheral nervous system involvement 2, 1
Laboratory Investigations
- Consider serum vitamin D concentrations and supplementation based on clinical presentation and age 2
Imaging Studies
- Consider baseline MRI of known or suspected nonsuperficial plexiform neurofibromas
- For women:
- Mammogram: start annually at age 30 years
- MRI breast with contrast: consider between ages 30-50 years
- Consider dual-energy X-ray absorptiometry for bone density assessment based on clinical presentation and age 2, 1
- MRI is preferred over CT scanning to reduce ionizing radiation exposure 2
Genetic Testing and Counseling
- NF1 gene sequencing can identify pathogenic variants in approximately 95% of individuals with NF1
- Particularly valuable in:
- Young children
- Individuals with atypical presentations
- Cases requiring differentiation from other conditions
- Family planning contexts 1
- Educate adults with NF1 that:
- It is an autosomal dominant disorder with 50% offspring recurrence risk
- Preimplantation genetic diagnosis and prenatal diagnosis options are available 2
Special Considerations for Plexiform Neurofibromas
If plexiform neurofibromas are suspected or identified:
- Imaging is essential to assess the full extent of the lesion
- Establish a baseline to judge future growth
- Identify whether there is a nodular component that may be associated with increased risk of malignant change 2
- For biopsies of suspicious lesions:
- Minimum of 6 core biopsies (4-8 mm) should be obtained when safe and feasible
- Cores should be divided into multiple blocks with no more than 2 cores per block 2
Patient Education
- Educate about MPNST signs and symptoms:
- Progressive severe pain
- Changes in tumor volume
- New unexplained neurologic symptoms
- Diaphoresis/palpitations (for pheochromocytoma) 2
Follow-up Planning
- Strong recommendation for evaluation by and care coordination with a specialized NF1 clinic
- For some patients, a multidisciplinary NF clinic may serve best as a medical home
- All patients should have a primary care physician 2
- Regular monitoring should include:
- Annual physical examination by a physician familiar with NF1
- Regular ophthalmologic examinations
- Regular blood pressure monitoring
- MRI for follow-up of clinically suspected internal tumors 1
Pitfalls to Avoid
- Avoid CT scans due to radiation exposure, especially in children 1
- Don't forget that common medical problems remain common in NF1 patients (e.g., most hypertension is essential and not pheochromocytoma-related, most back pain will not be due to MPNST) 2
- Remember that NF1 is associated with an 8-15 year reduction in life expectancy, primarily due to malignant neoplasms and cardiovascular causes, so thorough assessment is critical 1
Following these comprehensive assessment guidelines will help ensure proper diagnosis, monitoring, and management of patients with neurofibromatosis on their first visit, potentially improving long-term outcomes related to morbidity, mortality, and quality of life.