Medicines for Neurofibromatosis type 1

What it is

Neurofibromatosis type 1 (NF1) is a genetic condition that mainly affects the skin, nerves, and other tissues, causing changes such as skin patches and benign (non-cancerous) growths on the nerves. It is one of the more common genetic conditions, and is present from birth, though its features often become apparent over childhood. NF1 is caused by a change (mutation) in a particular gene; it can be inherited from a parent with the condition, or can arise as a new change in a person with no family history. A key feature of NF1 is that it is very variable — its effects range from mild to more significant, and differ greatly from person to person, even within the same family. Common features of NF1 include: café-au-lait spots (flat, light-brown patches on the skin, which are often present from early childhood, and having several is characteristic); freckling in unusual places (such as the armpits or groin); neurofibromas (soft, benign growths on or under the skin that develop on nerves, often appearing later in childhood or in the teenage years and beyond); tiny harmless spots on the coloured part of the eye (Lisch nodules); and, in some people, other features. Beyond these, NF1 can be associated with a range of possible issues in some people — such as learning or developmental difficulties, high blood pressure, effects on the bones or growth, certain other growths (including, uncommonly, some that can become problematic), and other health matters — but the extent varies widely, and many people with NF1 are mildly affected. Because NF1 is variable and can affect different systems, it is managed by regular monitoring to detect and address any problems early, and by treating specific issues as they arise, with support from specialist services. NF1 is usually a lifelong condition, but with good monitoring and management, many people live full lives, and problems can be identified and treated. The key messages are that NF1 is a variable genetic condition causing skin changes and benign nerve growths, that its effects range widely, and that regular monitoring and treating any problems as they arise are the mainstays of care.

How it is treated

Neurofibromatosis type 1 is managed by regular monitoring to detect and address problems early, treating specific issues as they arise, and providing support, usually through specialist services; because it is so variable, care is individualised. Diagnosis is based on the characteristic features (such as café-au-lait spots, freckling, neurofibromas, and others), sometimes supported by genetic testing, and often involves specialist assessment. Because NF1 can affect different parts of the body and its features and any complications can develop or change over time, the cornerstone of management is regular monitoring and review — for example, monitoring the skin and growths, blood pressure, growth and development in children, the eyes, the bones, and checking for any of the possible associated problems, so that anything needing attention is picked up early. This monitoring is tailored to the person’s age and situation, and is often coordinated through specialist services (there are specialist NF services and clinics). Treating specific issues as they arise is the other key aspect — for example, managing high blood pressure, supporting any learning or developmental difficulties, treating or removing neurofibromas that are causing problems or are of cosmetic concern (some can be removed), addressing bone or growth issues, and assessing and managing any growths or complications that need attention (including, uncommonly, the small risk that certain growths can change and need treatment — which monitoring helps to detect). Support is important — including support for children and families, for any learning or developmental needs, and for the emotional and practical aspects of living with a variable, lifelong condition — and genetic counselling is offered, as NF1 can be inherited, to discuss the condition, inheritance, and family planning. Because it is so variable, and many people are mildly affected, care is individualised, and the emphasis is on monitoring, early detection and treatment of any problems, and support. It is important to attend recommended monitoring and to seek assessment for new or changing symptoms — such as a growth that is changing, growing, becoming painful, or causing problems, new neurological symptoms, or other concerns — so they can be checked. The reassuring messages are that NF1 is very variable, with many people mildly affected, that it is managed through regular monitoring and treating any problems as they arise, and that specialist care and support help people live full lives, with problems identified and addressed as needed.