Neurofibromatosis type 1 (NF1) is a genetic condition that affects ± 1 in 3000 people globally. The characteristic features of NF1 include café-au-laits (which look like large freckles), freckles under the arms and in the groin, and sometimes tumor development randomly over and inside the body. The tumors are generally non-cancerous but can be problematic when they develop in areas like the brain, eyes, and skeleton. It is unclear how NF1 can cause an intellectual delay in about 50% of cases.
Genetic Cause:
NF1 is caused by changes in the NF1 gene that makes the neurofibromin protein. In people without NF1, the neurofibromin protein works as a tumor suppressor by controlling how cells in the body grow. When there is a change in the gene, then there can be a change in how the neurofibromin protein works. If it is not working, then tumors are very likely to develop.
Inheritance:
If someone has NF1, there is a 50% chance that their child will have NF1. But, sometimes, a person can be the first one in the family to have NF1. This is called “de novo”, and it happens in about half the cases of NF1.
Treatment:
Treatment of NF1 includes a team of different specialists depending on the person’s medical concerns (e.g., cardiology, endocrinology, and surgery). Some of the tumors can sometimes be removed, but not all of them. Additional learning support for people with learning challenges as well.
Overall, the severity of NF1 varies from person to person, even within the same family!
To find out more: https://www.nhs.uk/conditions/neurofibromatosis-type-1/
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