Tuberous Sclerosis: What You Need to Know
Tuberous sclerosis is a chronic disease that’s of genetic origin and is very rare. According to estimates, this disease occurs in 1 in 1,000 people per year. Currently, there may be between one and two million individuals suffering from this disease.
People with tuberous sclerosis must receive frequent and continuous medical care throughout their lives. This disease involves the appearance of tumor masses in different parts of the body, without these being malignant.
Fortunately, in most cases, tuberous sclerosis doesn’t affect life expectancy. However, individuals who receive their diagnosis early on and follow regular medical follow-up have a better prognosis.
Tuberous sclerosis is a genetic and multisystemic disease that causes benign tumors, mainly in the brain, kidneys, heart, eyes, skin, and lungs. This disease is also known as tuberous sclerosis complex (TSC).
One in every 6,000 live births has this disease, which affects all ethnicities and both sexes. It’s called tuberous sclerosis because the tumors that originate in the brain have the shape of a tubercle, i.e. like a lump with a root. Over time, they calcify and become sclerotic, that is, hard and compact.
This pathology can be present from birth, but its manifestations are often very subtle and therefore unnoticeable. Therefore, it can go on for many years, until more noticeable symptoms appear. However, in most cases, doctors will detect it during childhood.
Symptoms of tuberous sclerosis
The most obvious symptom of tuberous sclerosis is tumors, which can appear anywhere in the body. In addition to this, each person may have very different symptoms, as well as different levels of severity.
Some of the most common clinical manifestations are the following:
- Skin abnormalities. These include white or light spots, reddish spots or blotches on the face, plaques on the forehead, thick or lumpy skin on the back of the neck or lower back, small fleshy growths under the fingernails, or other abnormalities.
- Seizures. Tumors in the brain often cause seizures. In many cases, it’s the first obvious symptom.
- Cognitive and behavioral problems. Sometimes this disease is associated with conditions such as autism, intellectual disability, learning difficulties, hyperactivity, social adaptation problems, etc.
- Renal problems. Between 40 and 80% of those who suffer from this disease also have kidney problems, which usually manifest themselves between the ages of 20 and 30.
- Heart problems. Tumors in the heart are also frequent, but if they don’t cause problems after birth, they don’t cause difficulties later on, as they tend to shrink.
- Lung problems. Tumors in the lungs sometimes cause shortness of breath, especially during physical activity.
- Eye difficulties. Tumors in the eyes look like white spots but don’t always affect vision.
Read also: Early Signs of Multiple Sclerosis
Causes, diagnosis, and treatment
Science has been able to establish that tuberous sclerosis is caused by a mutation in the TSC1 and TSC2 genes, although mutation in only one of them is necessary for the disease to arise. The former is located on chromosome 9 and the latter on chromosome 16.
Furthermore, research has established that most of these mutations occur spontaneously, and only in a few cases do children inherit them from their parents. This disease is also acquired by a mechanism called gonadal mosaicism, in which one of the reproductive cells of one of the parents has the genetic mutation, although the other cells don’t have it.
Diagnosis of this disease requires a multidisciplinary team. Doctors usually order several tests, including the following:
- Magnetic resonance imaging (MRI)
- Computed tomography (CT) scan
- Ocular examination
- Psychiatric evaluation
- Genetic testing
There’s no cure for tuberous sclerosis, nor is there a specific treatment. Therefore, controlling the symptoms involves medication, surgery, physical therapy, occupational therapy, speech therapy, psychotherapy, special education, and social work, among others, depending on the case.It might interest you...