NF1 – Diagnosis, genetic counselling and recommendations for adult management

This guide addresses several important aspects of managing an adult patient with NF. Here are the most important points covered:

• Diagnosis of neurofibromatosis type 1
  • NF1 features
  • Diagnostic criteria
  • Café-au-lait stains
  • Neurofibromas
  • Axillary or inguinal freckling
  • Optic tract glioma
  • Lisch nodules
  • Distinctive bone lesions
  • Frequent manifestations of NF1
  • Genetic diagnosis
• Be able to offer basic genetic counselling to people with the disease and those at risk.
  • Principles of genetic counseling
  • NF1: Genetic testing
  • NF1: Benefits of genetic testing
  • NF1: Limits and disadvantages of genetic testing
  • Genetic testing: how to do it?
  • Possible result: positive test
  • Genotype-phenotype correlations
  • Possible result: negative test
  • What to do if the genetic test is negative?
  • Possible outcome: inconclusive
  • Risk of transmission
• Revise recommendations on adult management of the disease
  • Guidelines now exist for adult care
  • Malignant peripheral nerve sheath tumours  (MPNST)
  • Breast cancer
  • Pheochromocytoma
  • Other cancers
  • Hypertension and vasculopathy
  • Bone health
  • Cutaneous neurofibromas and cosmetic aspects
  • Cognitive and psychiatric aspects
  • Chronic neurological aspects, neuropathy and pain
  • Contraception and pregnancy
  • Annual assessment of NF1 patients
  • CHUM neurofibromatosis clinic