Tuberous Sclerosis: Possible Causes and Treatment Options

Overview

Tuberous sclerosis is an uncommon and rare genetic disorder that causes non-cancerous tumors in the body. This disorder is usually diagnosed shortly after birth. The benign tumors can appear in any part of your body and on various organs. Patients sometimes experience complex seizures due to this disorder. This article discusses the possible causes, symptoms, preventive measures, and treatment options for this rare disease.

About Tuberous Sclerosis

In this rare genetic multisystem disorder,  noncancerous growths (benign tumors), occur in parts of the body like the eyes, brain, kidneys, skin, lungs and heart, while any part of your body can be affected. The symptoms range from mild to severe, depending on the size or location of the overgrowth.

The common synonyms of this disease are Bourneville Pringle syndrome, tuberous sclerosis complex, and phakomatosis TS. Tuberous sclerosis is caused when one or two alterations are observed in genes, especially in the TSC1 or TSC2 genes.. Around one-third of people who have tuberous sclerosis inherit an altered TSC1 or TSC2 gene from a parent who has the disorder.

These genes are important because they play a significant role in providing instructions for creating protein in the human body. When the gene mutation takes place, the created protein becomes faulty or incompetent. Based on the functions of that protein, some organs undergo extra growth, and sometimes, it also adversely impacts the brain. The alteration of the TSC2 gene is riskier than that of TSC1 because it can cause more severe diseases.

Signs and Symptoms of Tuberous Sclerosis

The symptoms of tuberous sclerosis are as follows.

1. Tuberous sclerosis patients suffer from various skin abnormalities. They often have light-colored skin patches and can develop small, reddish, harmless, and smooth skin bumps around their nails. Acne and facial hair are also common symptoms observed in people from childhood.
2. Abnormal growth in the brain can cause seizures, which is another potential symptom of this disease. Infantile spasms can persist in childhood, and patients often show abnormalities in their legs and head.
3. Hyperactivity, self-injury, emotional adjustment, and social adjustment are common behavioral disorders associated with tuberous sclerosis.
4. Kidney problems are common in patients suffering from this disease. Most people develop non-cancerous tumors in their kidneys, which grow with age.
5. Intellectual disabilities, learning disabilities, and other kinds of developmental delays are associated with tuberous sclerosis. Along with these cognitive disabilities, children also have attention deficit hyperactivity disorder or autism spectrum disorder.
6. Pale patches on the eyes and abnormal growth of the retina are the eye problems associated with this disease. These abnormalities do not always interrupt the patient’s vision, but sometimes, they do so.
7. Growth in the heart is a common symptom. An abnormal rhythm of the heart is often noticed in children, but the growth generally tends to shrink as the child ages.
8. Lung problems occur in patients with tuberous sclerosis. People suffer from shortness of breath, difficulty in breathing, and chronic cough, especially after exercise or other physical activities. These lung problems are commoner in women than in men. 

When Should You See a Doctor?

The most common instances of tuberous sclerosis are noticed at birth, so contact your doctor to get early treatment. However, it is not always necessary that the symptoms will appear at birth. They can also become prevalent during childhood or even in later adulthood, so when you witness any symptoms, ensure to call your doctor right away.

If you think your child’s development is delayed but none of the aforementioned symptoms are prominent in them, please do not hesitate to consult your doctor. 

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Risks and Complications Associated with Tuberous Sclerosis

If the benign tumors keep growing in size, they can cause many complications in your body.

• Growth in the heart can block the natural flow of blood and cause irregular heartbeats, especially in infants.
• One kind of brain growth may block the flow of cerebral spinal fluid within your brain. This blockage can lead to a buildup of fluid in the cavities (ventricles) deep within your brain, a condition known as hydrocephalus. Nausea, a large head size, and headaches become prevalent when this happens.
• Kidney growth can become life-threatening and dangerous for people of all age groups. It can cause kidney failure, excessive bleeding, or high blood pressure. Abnormal kidney growth can also result in cancer sometimes.
• Abnormal growth in the lungs can cause collapsed lungs or fluid in the lungs , which disrupts normal lung function. 
• It can cause vision damage due to excess growth in the retina; however, this is rare.
• Sometimes, the growth in the brain and the kidney can result in the tumors turning malignant.

Treatment Options for Tuberous Sclerosis

Since the symptoms of this disease vary largely between patients, no specific treatment plan is available. If someone is experiencing severe seizures, the treatment plan consists of medical interventions through pills and sometimes, brain surgery. There is no specific anti-seizure medication that seems to work for all individuals, so in most cases, a combination of drugs is recommended to treat the seizures. 

Children who have developmental delays and mental disabilities are often recommended for special educational programs, medication, behavioral therapy, and occupational therapy. If someone witnesses only skin abnormalities as a result of tuberous sclerosis, doctors use lasers to remove the extra growth. Doctors also perform surgery to remove tumors from internal organs if they seem to block the functions of those organs.

Conclusion

Tuberous sclerosis is a rare genetic disorder, so the number of people suffering from it is low. However, the symptoms of this disease can be potentially life-threatening because they tend to stay for an entire lifetime. The symptoms vary from mere skin abnormalities to vision obstruction, and from developmental delays to lung failure. Therefore, if you happen to encounter any symptoms, don’t hesitate to consult your doctor. 

Frequently Asked Questions (FAQs)

Can surgery be performed for treating the seizure symptoms of tuberous sclerosis?

Yes, sometimes doctors perform surgery when it goes beyond the individual’s control and when they stop responding to medications. Seizure surgeries are used to remove the part of brain dysplasia causing the seizure.

How does a doctor diagnose tuberous sclerosis?

Doctors conduct a detailed clinical evaluation, collect the history of the patient and their family, perform specialized tests such as EEG, MRI, CT, ECG  and genetic tests , and diagnose this disease.

Is molecular genetic testing useful for diagnosing tuberous sclerosis?

Yes, molecular genetic testing is useful in this context. It is performed because this test can detect the alterations in one or more genes and thus, the cause of tuberous sclerosis can be determined. This clinical testing is done in specialized laboratories.

How common is tuberous sclerosis in India?

Tuberous sclerosis is a very rare genetic disorder. In India, the rate is 1 in every 95,136 people. In children below 6 years of age, the prevalence of this disease is 1 in every 14,608 people.