Monitoring

The most important aspect of monitoring is close and regular follow-up visits after a thorough baseline evaluation, both preferably in collaboration with an NF specialty clinic. The key is to be attentive to changes from one visit to another. This may now involve a baseline whole body MRI to assess tumor burden in individuals ages 16 to 20 years.[14]

All follow-up visits should involve an elaborate history-taking and physical exam, focusing on the eyes (including ophthalmoscopy), nervous system, skeleton, skin, and cardiovascular system, with blood pressure measurements at every visit, regardless of the patient's age. Radiographic and neuroimaging studies will be key elements of the monitoring schema for patients with any of the following:

  • A known or suspected intracranial glioma

  • Numerous subcutaneous neurofibromas

  • Either type of plexiform neurofibroma

  • Sphenoid wing dysplasia

  • Vertebral dysplasia.

Concern for the development of a malignant peripheral nerve sheath tumor resulting from both diffuse and nodular is high in the presence of large numbers, or large size, of plexiform neurofibromas.[42] In addition, new pain, new localized neurologic deficit, and/or a rapidly enlarging, firm (and often tender) mass are especially important in this regard.

Headaches are a particularly important problem for follow-up of NF1: they are common and have many causes. Often it is a change in the headache history that is critical for making decisions about how to handle this problem; thus careful monitoring of the patient's headache history is important.

Women with NF1 have a moderate risk of breast cancer and should be considered for additional mammographic or MRI screening between 30 to 35 and 49 years of age.[38][39]

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