What are the symptoms of NF1?
People with NF1 can experience a range of symptoms, including:
- Light brown spots on the skin, often called café-au-lait spots
- Soft tumours known as neurofibromas, which can occur anywhere on the body
- Freckling in areas such as the armpits or groin
- Bone deformities
- Learning difficulties or attention problems
- Changes in vision due to growths on the optic nerve
What causes NF1?
NF1 is caused by changes in a specific gene known as the NF1 gene. This gene is important for controlling cell growth, and when it does not work properly, it can lead to the symptoms of the condition. This genetic change can occur randomly or be passed down from a parent.
How common is NF1?
NF1 is one of the most common genetic conditions. It affects about 1 in every 3,000 people, making it relatively common among genetic disorders.
Who is more likely to get NF1?
Anyone can develop NF1, but it is usually inherited from a parent who also has the condition. About half of the cases are inherited, while the other half happen due to new genetic changes.
How can I treat NF1?
While there is no cure for NF1, there are treatments available to help manage symptoms. These may include:
- Surgeries to remove tumours if they cause pain or other issues
- Regular health check-ups to monitor for changes
- Support for educational needs if learning difficulties arise
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How to live with NF1?
Living with NF1 can be challenging, but many people lead normal and fulfilling lives. It is important to:
- Stay in contact with healthcare providers for regular monitoring and support
- Join support groups or connect with others who have the condition for advice and encouragement
- Focus on strengths and abilities, seeking help when needed
What’s the outlook for NF1?
Most people with NF1 have a good outlook and lead healthy lives. However, the condition can cause complications for some, so ongoing medical care and monitoring are important.
Final thoughts
NF1 is a genetic condition that can lead to a variety of symptoms but can often be managed with care and support. If you or someone you know is concerned about this condition, speaking to a GP or healthcare provider is important.
