Many people who have been diagnosed with NF1 never experience health problems. However, some people who have NF1 can develop some of the complications that are known to be linked to the condition.
The development of some of these features is related to age and some complications can first appear in childhood. Specific complications can be treated medically or surgically depending on the problem. Research may lead to new treatments in the future.
NF1 is complicated. It varies from one person to another, even within members of the same family. It is also unpredictable. At present there is no way to predict how mildly or severely any individual will be affected. Expert NF1 doctors recognise that some groups of NF1 patients need more specialist care than most.
It is important to remember that many people have still not heard of NF1. This suggests that in spite of the many thousands of people who have NF1, it is not necessarily a problem. About two thirds of people with NF1 will be mildly affected and lead a normal, healthy life.
If there is a TV programme or magazine article about NF1, it is inevitably described as a severe and frightening condition. It is important to get a balanced view. The vast majority of complications associated with NF1 are not life-threatening.
Some specific complications that occur in NF1
(This is not a complete list of all complications that can occur in NF1. Nor is it a substitute for advice from your own doctor.)
Ophthalmology (Eyes)
NF1 can cause problems at the back of the eye in the form of a lump or tumour. This lump is called an optic nerve tumour or an optic pathway glioma. This is most likely to occur in early childhood, up to about the age of seven. An optic glioma is a non-cancerous growth that involves the cells of the optic nerve, the nerve that connects the eye to the brain. Many optic gliomas in NF1 never cause any symptoms. They can be found coincidentally when a scan is done for something else.
When they do cause problems it is usually a decrease in vision, the eye bulging forward (proptosis) or, in a small percentage of cases it can cause early puberty.
Where this complication is diagnosed during childhood, it rarely progresses in adulthood. However, people with this problem need careful monitoring by an ophthalmologist (specialist eye doctor).
All children under the age of seven years will have hospital eye checks as part of their NF1 health check. Children and adults should have annual vision checks, reminding their optician they have NF1.
If someone with NF1 develops unusual changes in vision, blurred or double vision, they need to seek medical advice quickly. If parents notice young children bumping into things or a sudden onset of squint, they should ask for an urgent eye check.
Orthopaedic (bones)
In NF1 bones are affected in two main ways: there are some problems that affect a specific part of the body (for example, a curve developing in the spine). There is also increased evidence that some people with NF1 can have a general decrease in bone strength (decreased bone mineral density).
Specific localised bone problems arise during childhood. For example, NF1 can affect the growth and development of long bones, particularly the tibia (front lower leg bone or shinbone), causing them to bow.
Rarely, the bones that create the eye socket may not form properly causing problems with the position of the eye. Both of these problems are likely to be identified during infancy and will not develop out of the blue in later years.
Children can develop curvature of the spine (scoliosis) in NF1. This complication can occur up until a child is fully grown. If the spine is straight on reaching the final height (at 17/18 years), it will remain straight.
Complications affecting bones in NF1 are referred to a bone specialist (orthopaedic surgeon).
Decreased bone density, or osteopaenia, is found more frequently in NF1. This can lead to osteoporosis in adults. Adults with NF1 may also have lower levels of vitamin D than normal.
The NF1 clinic doctors are trying to work out whether all NF1 patients should therefore have bone checks as part of their routine healthcare. How best to manage this risk should be discussed with your doctor or NF1 specialist.
Dermatology (skin)
Neurofibromas are benign (non-cancerous) tumours/growths that develop on or under the skin or along a nerve. They can occur anywhere on the body where there are nerves. They may look and feel like small pea-sized lumps or nodules under the skin.
Skin neurofibromas are usually soft and painless. Those that are under the skin may be firmer to touch but are normally painless. Other neurofibromas may be located deep in the body and cannot be felt from the outside. They do not usually cause health problems although some may press on a nerve causing symptoms such as pain or numbness. In this case further medical advice is needed.
Many adults feel embarrassed and self-conscious about their neurofibromas. There is no way to predict how many neurofibromas a person with NF1 will have, or when or where on the body they will develop.
However almost all people with NF1 will have some neurofibromas. Some people will have very few; others will have many. At present there is no treatment that can prevent or slow the growth of neurofibromas. Research into preventative treatment for neurofibromas is continuing in the UK and internationally.
Sometimes a neurofibroma grows in an awkward place and may catch on clothing. It may be possible to remove it. This should always be undertaken by a doctor who has experience of NF1. This doctor will be a dermatologist or a plastic surgeon.
There are at present two main ways that neurofibromas can be removed: one is by surgery and the other by laser treatment. To access this service you should ask your GP or NF doctor to refer you to the nearest specialist.
Many people with NF1 tend to tan easily without sunburn.
