Neurofibromatosis type 1 is a genetic disorder that affects 1 in every 3,000 to 4,000 Americans, according to the National Institute of Neurological Disorders and Stroke.
Learn more about the symptoms spotted during childhood and treatment options from a UVA specialist in neurocutaneous disorders.
Learning More About Neurofibromatosis Type 1
Featured Speaker:
UVA Neurosciences: Brain & Spine Care
Dr. Radhika Dhamija
Dr. Radhika Dhamija is a board-certified neurologist – with a special qualification in child neurology – whose specializes in neurocutaneous disorders such as neurofibromatosis.UVA Neurosciences: Brain & Spine Care
Transcription:
Learning More About Neurofibromatosis Type 1
Melanie Cole (Host): Neurofibromatosis type 1 is a genetic disorder that affects one in every 3,000 to 4,000 Americans, according to the National Institute of Neurological Disorders and Stroke. My guest today is Dr. Radhika Dhamija. She’s board-certified neurologist, with special qualification in child neurology, who specializes in neurocutaneous disorder, such as neurofibromatosis. Welcome to the show, Dr. Dhamija. Tell us, what is neurofibromatosis type I?
Dr. Radhika Dhamija (Guest): Thank you for having me on this show. I’d love to tell you about neurofibromatosis. neurofibromatosis type 1 is a genetic, neurologic disorder and it is caused by mutations in a particular gene that we call neurofibromin. The normal function of this gene is to suppress tumor growth or help normal cell growth. And when this gene is not functioning, then we see abnormal cell growth in the form of tumors. So that is, in summary, what a neurofibromatosis type 1 is.
Melanie: Who does it most typically affect?
Dr. Dhamija: It can affect really anybody. It affects children. It affects adults. It affects people of all races. It doesn’t have any sex predilection. It affects females and males equally. As I said, it’s a genetic disorder, and oftentimes, in at least half of the individuals, we can trace it to other members of the family; it is inherited from their mom or dad. But probably in about half of the patients, it is caused by new mutations, so we are not able to find a family history and that individual is the only affected member in the family.
Melanie: What are some of the most common signs and symptoms that would either signal a parent to take their child to see you or that someone might notice?
Dr. Dhamija: Oftentimes, a common cause of referral is café au lait macules. They are brown spots on the skin. They start developing in the first few months of life and keep increasing in number as a child is growing. The other common symptoms are neurofibromas. Neurofibromas are benign tumors of the nerve. Nerves are present really anywhere in our body. They’re present in the skin, under the skin, the nerves, except the spinal cord. So once those neurofibromas or tumors form around those nerves or in the nerve, they cause symptoms such as pain or weakness in a limb. Those would be common signs and symptoms that a patient can present with. These neurofibromas can also be found under the skin, so they can be of some cosmetic issues depending on where in the body they are. The other symptom that we worry about in this disease is this disease, as I said, is caused by mutation in a tumor-suppressor gene, so it increases the chance of an individual to develop other kinds of tumors. One particular tumor we worry about especially in children is called optic glioma. It’s a brain tumor and it affects the optic nerve or the eye nerve that goes to the brain and its pathway. We do recommend that all patients with neurofibromatosis type 1 see an eye doctor annually so that we don’t miss it. We also worry about blood pressure issues, because there’s a specific kind of tumor that can happen in this disease. It’s called pheochromocytoma that releases hormones that can increase one’s blood pressure. Those are, I guess, the common things that we worry about in this disease.
Melanie: As you’re facing these medical challenges that this disease can cause, do you treat each of these things as they come up, Dr. Dhamija? Or do you treat this as a whole disease in the child? Or do you take each one of these challenges and deal with them as they come?
Dr. Dhamija: We try to look for those things in an individual whether they have it or not, and as the challenges come, we offer specific therapy for them. I recommend that anybody with neurofibromatosis type 1 to see a physician who’s very familiar with this disease every year, because even within the same family, if they have the same mutation, the manifestations of this disease are very different. Some individuals can have really minor signs and symptoms, like only skin changes and fibromas under or over their skin; however, other individuals can develop more serious kinds of problems, like tumors, and so would probably need different management. So it really depends on what manifestations or what sign and symptoms an individual develops, and then we try to manage those. Annual follow-up in a neurogenetics clinic with somebody who’s familiar with this disease would be the key, and then the other things sort of follow it.
Melanie: So speak about the treatment options that are available now for neurofibromatosis type 1. As you’re dealing with the high blood pressure and the optic nerve tumors and any of these things, what treatments are out there?
Dr. Dhamija: Sure. Optic glioma – we can start with that. Optic glioma is very unique in neurofibromatosis type 1. It can actually be present in up to 25% of kids with this disease, especially under the age of 8 years. This is very different from optic glioma in an individual who does not have neurofibromatosis type 1. Typically in this disease, we think that it regresses actually, and may not even need chemotherapy or radiation therapy. And so we oftentimes follow them very closely with a serial MRI scans of the brain, do their vision assessment, and only treat if it’s really rapidly going or it’s affecting their vision to a certain extent. As I said, it can often regress, but behaves very differently, and so they would rarely need a physician who knows about optic glioma in this particular disease, versus if it occurred without neurofibromatosis type 1. Coming to blood pressure issues, it is more about detecting high blood pressure in an early stage so that we can look for that one kind of tumor that I talked about, pheochromocytoma, and that would be managed like any other pheochromocytoma. If the blood pressure is unrelated to pheochromocytoma, again, the management would be similar to hypertension, otherwise. The neurofibromas can be removed oftentimes easily especially if they’re over the skin or in the dermis. However, there is a particular kind of neurofibromas that can happen in this disease, called flexi-form neurofibroma, which is a very complex neurofibroma involving multiple nerves. Oftentimes, the skin over that neurofibroma is discolored, has a patch of hair, and so we get an idea that there might be a flexi-form neurofibroma underneath. So those neurofibromas are somewhat challenging to manage because if you cannot do surgery and take the whole tumor out, as they are large, in about 10% of the time, those flexi-form neurofibromas can turn malignant or turn into neurosarcomas. Unfortunately, we don’t have very good therapies for those kinds of cancers yet. However, as I said, they’re very rare and most of the time, 90% of the time, the neurofibromas are benign and the symptoms that really come out of it are because of the location of them and are more related to pain and cosmetic issues, and worrying that they’ll turn into cancer.
Melanie: And doctor, in just the last couple of minutes, please give the listeners your very best advice about kids that have neurofibromatosis type 1 and the outcome for the rest of their life and why should patients come to UVA for their care.
Dr. Dhamija: I should tell the listeners that most patients of neurofibromatosis type 1 have mild to moderate challenges in their life. Their longevity, for most part, is not affected because, as I said, cancers in this are not malignant. They’re benign. I think UVA is uniquely positioned. We offer a multidisciplinary care. We have neurologists, geneticists, neurosurgeons, plastic surgeons, oncologists, genetic counselors who work very closely with both adults and kids, and we have a dedicated neurocutaneous clinic and a neurofibromatosis type 1 clinic. And so, all the physicians who are involved in this multidisciplinary clinic are very familiar with the latest research, the latest technology, and just the latest knowledge of neurofibromatosis type 1.
Melanie: Thank you so much. For more information, you can go to uvahealth.com. That’s uvahealth.com. You’re listening to UVA Health Systems Radio. I’m Melanie Cole. Have a great day.
Learning More About Neurofibromatosis Type 1
Melanie Cole (Host): Neurofibromatosis type 1 is a genetic disorder that affects one in every 3,000 to 4,000 Americans, according to the National Institute of Neurological Disorders and Stroke. My guest today is Dr. Radhika Dhamija. She’s board-certified neurologist, with special qualification in child neurology, who specializes in neurocutaneous disorder, such as neurofibromatosis. Welcome to the show, Dr. Dhamija. Tell us, what is neurofibromatosis type I?
Dr. Radhika Dhamija (Guest): Thank you for having me on this show. I’d love to tell you about neurofibromatosis. neurofibromatosis type 1 is a genetic, neurologic disorder and it is caused by mutations in a particular gene that we call neurofibromin. The normal function of this gene is to suppress tumor growth or help normal cell growth. And when this gene is not functioning, then we see abnormal cell growth in the form of tumors. So that is, in summary, what a neurofibromatosis type 1 is.
Melanie: Who does it most typically affect?
Dr. Dhamija: It can affect really anybody. It affects children. It affects adults. It affects people of all races. It doesn’t have any sex predilection. It affects females and males equally. As I said, it’s a genetic disorder, and oftentimes, in at least half of the individuals, we can trace it to other members of the family; it is inherited from their mom or dad. But probably in about half of the patients, it is caused by new mutations, so we are not able to find a family history and that individual is the only affected member in the family.
Melanie: What are some of the most common signs and symptoms that would either signal a parent to take their child to see you or that someone might notice?
Dr. Dhamija: Oftentimes, a common cause of referral is café au lait macules. They are brown spots on the skin. They start developing in the first few months of life and keep increasing in number as a child is growing. The other common symptoms are neurofibromas. Neurofibromas are benign tumors of the nerve. Nerves are present really anywhere in our body. They’re present in the skin, under the skin, the nerves, except the spinal cord. So once those neurofibromas or tumors form around those nerves or in the nerve, they cause symptoms such as pain or weakness in a limb. Those would be common signs and symptoms that a patient can present with. These neurofibromas can also be found under the skin, so they can be of some cosmetic issues depending on where in the body they are. The other symptom that we worry about in this disease is this disease, as I said, is caused by mutation in a tumor-suppressor gene, so it increases the chance of an individual to develop other kinds of tumors. One particular tumor we worry about especially in children is called optic glioma. It’s a brain tumor and it affects the optic nerve or the eye nerve that goes to the brain and its pathway. We do recommend that all patients with neurofibromatosis type 1 see an eye doctor annually so that we don’t miss it. We also worry about blood pressure issues, because there’s a specific kind of tumor that can happen in this disease. It’s called pheochromocytoma that releases hormones that can increase one’s blood pressure. Those are, I guess, the common things that we worry about in this disease.
Melanie: As you’re facing these medical challenges that this disease can cause, do you treat each of these things as they come up, Dr. Dhamija? Or do you treat this as a whole disease in the child? Or do you take each one of these challenges and deal with them as they come?
Dr. Dhamija: We try to look for those things in an individual whether they have it or not, and as the challenges come, we offer specific therapy for them. I recommend that anybody with neurofibromatosis type 1 to see a physician who’s very familiar with this disease every year, because even within the same family, if they have the same mutation, the manifestations of this disease are very different. Some individuals can have really minor signs and symptoms, like only skin changes and fibromas under or over their skin; however, other individuals can develop more serious kinds of problems, like tumors, and so would probably need different management. So it really depends on what manifestations or what sign and symptoms an individual develops, and then we try to manage those. Annual follow-up in a neurogenetics clinic with somebody who’s familiar with this disease would be the key, and then the other things sort of follow it.
Melanie: So speak about the treatment options that are available now for neurofibromatosis type 1. As you’re dealing with the high blood pressure and the optic nerve tumors and any of these things, what treatments are out there?
Dr. Dhamija: Sure. Optic glioma – we can start with that. Optic glioma is very unique in neurofibromatosis type 1. It can actually be present in up to 25% of kids with this disease, especially under the age of 8 years. This is very different from optic glioma in an individual who does not have neurofibromatosis type 1. Typically in this disease, we think that it regresses actually, and may not even need chemotherapy or radiation therapy. And so we oftentimes follow them very closely with a serial MRI scans of the brain, do their vision assessment, and only treat if it’s really rapidly going or it’s affecting their vision to a certain extent. As I said, it can often regress, but behaves very differently, and so they would rarely need a physician who knows about optic glioma in this particular disease, versus if it occurred without neurofibromatosis type 1. Coming to blood pressure issues, it is more about detecting high blood pressure in an early stage so that we can look for that one kind of tumor that I talked about, pheochromocytoma, and that would be managed like any other pheochromocytoma. If the blood pressure is unrelated to pheochromocytoma, again, the management would be similar to hypertension, otherwise. The neurofibromas can be removed oftentimes easily especially if they’re over the skin or in the dermis. However, there is a particular kind of neurofibromas that can happen in this disease, called flexi-form neurofibroma, which is a very complex neurofibroma involving multiple nerves. Oftentimes, the skin over that neurofibroma is discolored, has a patch of hair, and so we get an idea that there might be a flexi-form neurofibroma underneath. So those neurofibromas are somewhat challenging to manage because if you cannot do surgery and take the whole tumor out, as they are large, in about 10% of the time, those flexi-form neurofibromas can turn malignant or turn into neurosarcomas. Unfortunately, we don’t have very good therapies for those kinds of cancers yet. However, as I said, they’re very rare and most of the time, 90% of the time, the neurofibromas are benign and the symptoms that really come out of it are because of the location of them and are more related to pain and cosmetic issues, and worrying that they’ll turn into cancer.
Melanie: And doctor, in just the last couple of minutes, please give the listeners your very best advice about kids that have neurofibromatosis type 1 and the outcome for the rest of their life and why should patients come to UVA for their care.
Dr. Dhamija: I should tell the listeners that most patients of neurofibromatosis type 1 have mild to moderate challenges in their life. Their longevity, for most part, is not affected because, as I said, cancers in this are not malignant. They’re benign. I think UVA is uniquely positioned. We offer a multidisciplinary care. We have neurologists, geneticists, neurosurgeons, plastic surgeons, oncologists, genetic counselors who work very closely with both adults and kids, and we have a dedicated neurocutaneous clinic and a neurofibromatosis type 1 clinic. And so, all the physicians who are involved in this multidisciplinary clinic are very familiar with the latest research, the latest technology, and just the latest knowledge of neurofibromatosis type 1.
Melanie: Thank you so much. For more information, you can go to uvahealth.com. That’s uvahealth.com. You’re listening to UVA Health Systems Radio. I’m Melanie Cole. Have a great day.