- Main symptoms
- 1. Skin
- 2. Brain
- 3. Heart
- 4. Lungs
- 5. Kidneys
- What is the life expectancy
- How the treatment is done
Tuberous sclerosis, or Bourneville's disease, is a rare genetic disease characterized by the abnormal growth of benign tumors in various organs of the body such as the brain, kidneys, eyes, lungs, heart and skin, causing symptoms such as epilepsy, developmental delay or cysts in the kidneys, depending on the affected region.
This disease has no cure, but it can be treated with drugs to reduce symptoms, such as anti-seizure drugs, for example, with psychology, physiotherapy or occupational therapy sessions, in order to improve the quality of life.
There is yet another disease that causes similar symptoms with the growth of tumors in the body, however, it only affects the skin and is known as neurofibromatosis.
Main symptoms
The symptoms of tuberous sclerosis vary according to the location of the tumors:
1. Skin
- Light spots on the skin; Skin growth under or around the nail; Lesions on the face, similar to acne; Reddish spots on the skin, which may increase in size and thicken.
2. Brain
- Epilepsy; Developmental delay and learning difficulties; Hyperactivity; Aggressiveness; Schizophrenia or autism.
3. Heart
- Palpitations; Arrhythmia; Shortness of breath; Dizziness; Fainting; Chest pain.
4. Lungs
- Persistent cough; Feeling of shortness of breath.
5. Kidneys
- Urine with blood; Increased frequency of urination, especially at night; Swelling of the hands, feet and ankles.
Usually, these symptoms appear during childhood and the diagnosis can be made through genetic tests of karyotype, cranial tomography and magnetic resonance. However, there are also cases where the symptoms can be very mild and go unnoticed until adulthood.
What is the life expectancy
The way in which tuberous sclerosis develops is very variable, and may only show few symptoms in some people or become a major limitation for others. In addition, the severity of the disease also varies according to the affected organ, and when it appears in the brain and heart it is usually more severe.
However, life expectancy is usually high, as it is rare for complications to arise that can be life-threatening.
How the treatment is done
The treatment of tuberous sclerosis is aimed at decreasing the symptoms of the disease and improving the patient's quality of life. Thus, it is important that the person is monitored and has regular consultations with the neurologist, nephrologist or cardiologist, for example, to indicate the best treatment.
In some cases, treatment can be done with anti-seizure medications, such as Valproate semisodium, Carbamazepine or Phenobarbital, to prevent seizures, or other remedies, such as Everolimo, which prevents the growth of tumors in the brain or kidneys, for example. example. In the case of tumors growing on the skin, the doctor may prescribe the use of an ointment with Sirolimus, to reduce the size of the tumors.
In addition, physiotherapy, psychology and occupational therapy are essential to help the individual better cope with the disease and have a better quality of life.
