How is Neurofibromatosis type 1 diagnosed?

The first and most common method is a clinical diagnosis. Your child’s doctor will look for signs of NF1 in your child’s skin, eyes, bones or brain. The second method is genetic testing, also called a molecular or DNA diagnosis. Your child will need to give a blood sample.

What does chromosome 17 have to do with NF1?

NF1 is caused by changes (pathogenic variants) in a gene called NF1, which is found on chromosome 17. This gene regulates the production of a protein known as neurofibromin, which is thought to function as a tumor suppressor.

What is the life expectancy of someone with NF1?

If there are no complications, the life expectancy of people with NF is almost normal. With the right education, people with NF can live a normal life. Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder. Learning disabilities are a common problem.

Can neurofibromatosis cause high blood pressure?

Abstract. Hypertension in neurofibromatosis is mostly a consequence of a stenosis of the renal artery or is due to phaeochromocytoma.

How serious is NF2?

People with NF2 often have a shorter life span than the general population. The disease can also lead to significant disabilities. Acoustic nerve tumors can be hard to treat and the majority of patients eventually become completely deaf.

Can neurofibromatosis affect the heart?

Neurofibromas, the characteristic tumors of NF1, can develop within the heart, obstruct blood flow in the heart or major vessels by compression or invasion, or erode a vessel and cause hemorrhage. Fortunately, these are rare complications.

Does neurofibromatosis cause fatigue?

Conclusion: This study suggests that children with NF1 are affected by perceived fatigue when compared with healthy children who do not have NF1.