Prognosis
Previously, the seriousness of NF1 had been repeatedly understated as a reflection of how mild it often is in childhood. However, now that there is substantial experience with long-term follow-up, the outlook is for a burdensome, multifaceted, progressive disorder. Patients with NF1 have reduced life expectancy due to malignancy and cardiovascular disease, particularly due to excess deaths <50 years of age.[64]
The sooner serious problems arise - such as major learning disabilities, optic pathway glioma, tibial pseudarthrosis, dystrophic scoliosis, plexiform neurofibromas - the greater the expectation for ultimate major long-term compromise.
Infancy or early childhood onset should be considered for tibial pseudarthrosis, sphenoid wing dysplasia, vertebral dysplasia, juvenile chronic myelogenous leukaemia, diffuse plexiform neurofibromas, and severe learning disabilities.
Malignant peripheral nerve sheath tumours (MPNSTs) and phaeochromocytomas are very rare in the first decade of life.
MPNST usually occurs within a plexiform neurofibroma, meaning that the 10% overall risk is certainly less for those without such neurofibromas and greater for those with ≥1 such tumours.
An excess of other types of cancer has not been established.
Renovascular hypertension may develop in any age group.
It is not possible to predict the cutaneous neurofibroma burden.
A child who reaches the second decade without a diffuse plexiform neurofibroma, an optic pathway glioma, or any of the skeletal features of NF1 is extremely unlikely to develop such lesions later.
An excess and/or early onset of cardiovascular disease has been suggested.[65]
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