Tuberous Sclerosis Symptoms: Its Causes And Treatment Options

Tuberous sclerosis is a rare genetic non cancerous tumor condition which involves multiple organs. The common body parts which get affected by the tumor in this disease are brain, skin, kidney and lungs. Tuberous sclerosis (TS) can be present from neonates to adult life, though it is often detected in early infancy.

The signs, symptoms and severity of disease vary depending on the organ which is affected. Sometimes the constellation of symptoms is subtle and remains undetected throughout the life, while in some cases patient may have severe disabilities such as epilepsy, learning difficulty, developmental delay, kidney failure etc.

Tuberous sclerosis is caused by mutation of genes which are labeled as TSC1 and TSC2. There is no permanent cure and treatment is focused on alleviating the symptoms. Many people with tuberous sclerosis lead full life. Renal failure is the most common cause in patients who live past the age of 40 years.

Symptoms Of Tuberous Sclerosis

The symptoms of tuberous sclerosis vary from one person to another. It depends on how severe the condition is and which part of the body is affected by the tuberous growth. Non cancerous growth may develop in skin, brain, kidney, lungs, eye and heart.

The symptoms may be noticed during infancy or even in adulthood. In some cases they are subtle and remain undetected. Here is the clinical manifestation:

  • Skin Symptoms: The skin color in many places may fade or there is loss of pigmentation in such areas. Skin become thick and rough in many areas. Bumps may appear on face and they look similar to pimples.
  • Neurological symptoms: The tuberous growth in brain may affect its function in many areas. The child may have developmental delays. There may be retardation in metal growth according to the age of the child. The child may be autistic and he may have language and learning problem.
  • Kidney symptoms: Almost fifty percent of patients having tuberous sclerosis in kidney have hematuria as one of the prominent symptom. It is passage of blood in urine. A renal cyst is more common in females. Sometimes as the tumor is full of vessels it can result in severe hemorrhage resulting in shock.
  • Lungs symptoms: Tumor in lung tissue may result in breathlessness and coughing. As time passes it may lead to lung failure.

What Causes Tuberous Sclerosis?

Tuberous sclerosis is a genetic disease. This means there is mutation of genes which is responsible for the condition. The two genes which are supposed to be responsible are termed as TSC1 and TSC2. Either of the two is at fault.

These genes are long genes which are actually responsible for suppressing the tumor growth. However, mutation in any one of the genes may cause excessive cellular division which may result in uncontrolled growth of cells. TS genes have been localized on chromosome 16 and chromosome 9.

Treatment Options For Tuberous Sclerosis

There is no specific cure for tuberous sclerosis. Treatment is aimed at alleviating the presenting symptoms. It also depends on the severity of the condition.

  • Treatment is concentrated on the organs involved. For example if the patient is having seizures, he is given anti epileptic medicines to control epilepsy. However, patient has to be monitored that he is not overdosed by the drug. In case if epilepsy is not controlled with medicines, brain surgery may become necessary to remove the growth.
  • For skin conditions, laser therapy is used to remove unsightly lesions. Once the lesions are removed there is less chance of them recurring again.
  • If there is development delay, the child may require physical therapy and occupational therapy to improve his ability to perform his daily activity. With speech therapy the child may be able to speak in a batter way.

If the symptoms are mild many patients live a long life. If patient survives the age above 40, most of them may have renal complications which may become life threatening.