Diagnosis+and+Treatment+NF1

 Diagnosis and Treatment

 Neurofibromatosis Type 1 is diagnosed by a combination of findings including physical symptoms and clinical tests. Physicians typically diagnosis this disease once multiple café au lait spots become visible as well as possible subcutaneous tumors. Further tests are performed in an effort to determine what defects are present in the NF1 gene, including blood tests, MRIs, CTs, etc. Genetic testing is also utilized often before the child born in order to predict their possible status in relation to being positive for NF1 mutations. There are two methods of genetic testing both of which are at least 90% accurate. The first is Direct Gene Mutation Analysis, which looks to identify the particular gene in the individual that is affected and causing NF1. The second method is Linkage Analysis, which utilizes blood from family members to track the chromosome carrying the disease through two generations. The Direct Gene Mutation Analysis method is 95% accurate while the Linkage analysis is 90%.  Once a person is diagnosed with Neurofibromatosis Type 1 their treatment options are limited, there is no cure for the disease. The tumors can be managed with surgical removal, then radiation and chemotherapy to prevent regeneration. Work in developing gene therapies to treat NF1 is currently underway in multiple labs across the globe, but the extreme complexity and individual genotype-phenotype correlations presented by spontaneous mutations are making the process extremely difficult.

Neurofibromatosis Type 1