Vascular Disease in
Neurofibromatosis Type 1
Cynthia Hingtgen, MD, PhD
Renal artery stenosis also occurs in about 1 out of every 100 people with NF. This is a narrowing of the renal artery in the kidney and this narrowing changes many chemicals that regulate blood pressure throughout the body. It is identified in children and young adults with unexplained hypertension by special studies that show the blood vessels in the kidneys. There are several ways to try to treat this narrowing, but they do not always solve the problem, particularly in those who have NF1.
Even when not including pheochromocytomas or renal artery stenosis, high blood pressure is very common in people with NF1. In young children or pregnant women, pheochromocytoma or renal artery stenosis should be ruled out as a cause of the high blood pressure. Even so, most people with NF and high blood pressure will have what is called “essential hypertension,” meaning that we do not have a specific cause. Researchers are trying to discover why high blood pressure is so common in people with NF1 and how the genetic changes of NF1 can alter the properties of the blood vessels. There is some evidence that the blood vessel disease in people with NF1 might be caused by abnormal inflammatory cells or a change in the way that the blood vessels respond to oxidative stress and free radicals. For now, the most important thing is to identify and treat high blood pressure early to avoid the long term damage of high blood pressure that can lead to heart attacks and strokes.
What should you do?
- If you have sudden onset of the worst headache of your life, crushing chest pain, or sudden onset of trouble seeing in one eye, trouble talking, or trouble using your arm or leg, go to your local emergency room immediately. This may be the sign of a severe and life threatening vascular problem.
- See your primary care doctor and/or neurofibromatosis doctor at least once a year.
- Make sure that you are getting your blood pressure checked at least every 6 months. If you see multiple doctors, it is good to keep a notebook with your readings and share those with your primary care doctor and/or neurofibromatosis doctor.
- Inform your primary care doctor and/or neurofibromatosis doctor if you are having new headaches, dizzy spells, pain in the limbs or fatigue.
- Do not start smoking. If you do smoke, then discuss options to help you quit with your primary care doctor and/or neurofibromatosis doctor.
- Check with your primary care doctor and/or neurofibromatosis doctor first and then start a regular exercise program that involves aerobic activity.
- Have your cholesterol and lipid levels checked at least once a year if you are over 20 years old. Discuss the results with your primary care doctor and/or neurofibromatosis doctor.
- If you are over 45 years old, discuss with your primary care doctor and/or neurofibromatosis doctor whether or not you should start taking an aspirin a day to prevent heart attack and stroke.
- If your doctor puts you on medication for your blood pressure or for high cholesterol, make sure that you take it as directed. If the medication is giving you side effects or if you are having trouble affording your medications, discuss that with your doctor. He or she may be able to make changes in the medications to help.
JM Friedman, J Arbiser, JA Epstein, DH Gutmann, SJ Huot, AE Lin, B Mcmanus and BR Korf (2002) Cardiovascular disease in neurofibromatosis 1: Report of the NF1 Cardiovascular Task Force. Genetics in Medicine 4:105-111.