Neurofibromatosis Type 1: Diagnosis

James Cassidy, MD, PhD, Chief Medical Officer at SpringWorks Therapeutics, discusses how neurofibromatosis type 1 (NF1) is diagnosed and its typical prognosis.

NF1 is a genetic disorder due to mutations in the NF1 gene that leads to a plethora of symptoms including cutaneous neurofibromas, ‘cafe au lait’ spots, plexiform neurofibromas, motor dysfunction, airway dysfunction, bowel/bladder dysfunction, and disfigurement. Learning difficulties, visual impairment, twisting and curvature of the spine, hypertension, and epilepsy may also develop in NF1 patients.

As Dr. Cassidy explains, unlike most ultra-rare cancers, the signs and symptoms of NF1 tend to be familiar to physicians, which often speeds up the time to a proper diagnosis. However, if a patient does not present with visible neurofibromas or has fewer cafe au lait spots, it can take longer for that patient to receive a NF1 diagnosis.
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