Tuberous sclerosis is a rare genetic disease. One of its first symptoms is a characteristic rash that turns into small lumps over time. In tuberous sclerosis, benign neoplasms of many organs develop, incl. brain, heart or lungs. What are the causes and other symptoms of tuberous sclerosis? How is the treatment of SG patients?

Tuberous sclerosis(TSC, Bourneville-Pringle disease) belongs to the so-called neurocutaneous syndromes. phakomatosis. In its course, hamartomas (tumors of a non-cancerous nature, developmental disorders) are formed on the skin, brain, kidneys, heart, bones, lungs and eyes.

It is estimated that tuberous sclerosis affects approximately one million people worldwide. In Poland, about 7 thousand people are struggling with this disease. people.

Tuberous sclerosis - causes

The disease is genetically determined, inherited autosomal dominantly together with the genes responsible for the blood group system AB0. Tuberous sclerosis is caused by the mutation of one of two genes: TSC1 or TSC2. These genes code for proteins that function in the so-called mTOR pathway, which are responsible for the proper differentiation and maturation of cells that make up mainly the skin, brain, heart, kidney, liver, retina and lungs

Both genes belong to the group of so-called tumor growth suppressors, i.e. they influence the development of neoplastic disease - they control the growth and proliferation (uncontrolled multiplication) of neoplastic cells, as well as their joining and movement.

Tuberous sclerosis - symptoms

As prof. Danuta Perek - President of the Polish Society of Pediatric Oncology and Hematology, President of the Polish Pediatric Neurooncology Group, long-term head of the Oncology Clinic of the Children's He alth Center - the most common, first, very important symptom visible to the naked eye, which makes us suspect tuberous sclerosis, are colorless marks on the skin. They appear after birth or up to 24 months of age, usually in the amount of not less than three, and their diameter should not be less than 5 mm.

The first symptom of SG are colorless moles on the skin, which occur in 90% of patients. sick

Another symptom,which appear in 60-90 percent sick children around 5 months of age, seizures are getting worse - says prof. Perek. Infants develop flexion seizures, and in older children and adults, seizures may be generalized or partially complex. They are dysplastic, hamartomatic changes in the cerebral cortex - explains the professor.

Tuberous sclerosis develops yet another dangerous lesion in the brain - sub-epileptic giant cell astrocytoma - SEGA (i.e. a brain tumor). It blocks the flow of cerebrospinal fluid and causes hydrocephalus, which results in increased intracranial pressure, impaction of the brain and death. Slowly growing tumor can lead to optic atrophy. A SEGA tumor develops in later childhood, in teens and early adolescence.

Important

Tuberous sclerosis can take different forms, with different symptoms and severities. However, it is characterized by the formation of lumps and tumors that can attack almost any organ, especially the heart, kidneys, lungs, brain and skin.

Patients' lives may also be endangered by renal angiomyolipomas, AML, because they can become malignant or cause serious bleeding - says prof. Perek. Numerous, mild changes disturb the functioning of the kidneys, lead to their failure, dialysis and the need for transplants - he adds. Kidney tumors occur in 70-80 percent. and are the leading cause of death in adult tuberous sclerosis patients, he points out.

Tuberous sclerosis - diagnosis, treatment and prognosis

In SG, first of all, we are dealing with changes that require neurological care, but the disease affects various organs, which requires the cooperation of such specialists as: oncologist, urologist, cardiologist or pulmonologist - notes Prof. Perek.

Changes in the brain and improperly treated epileptic seizures lead to a complex of disorders, including autism and ADHD. Therefore, the help of a psychologist and psychiatrist is indispensable. There is even a shortage of epileptologists in Poland, not to mention centers that would be dedicated to the treatment of epilepsy.

Until recently, only surgical methods were available for the treatment of SEGA tumors and AML kidney tumors. However, a drug that is able to inhibit and reverse the effects of gene mutations has recently been developed (it reduces the tumor mass by up to 50% after 3-6 months of use). It's an mTOR inhibitor -everolimus . In Poland, only the group of patients who continue the SEGA treatment started as part of non-standard chemotherapy has access to reimbursed therapy, and only in the area ofof the Lodz voivodeship. Treatment with this preparation is not reimbursed in newly diagnosed patients. Only a preparation called sirolimus is reimbursed by the National He alth Fund, which, however, has no registered indications in SEGA. Its administration in this case is therefore treated as a medical experiment.

This will be useful to you

The problem of patients is the lack of centers that would comprehensively treat tuberous sclerosis. Sick children can find help in:

  • Children's He alth Center
  • Clinical Hospital of the Medical University of Lodz in Lodz
  • University Children's Teaching Hospital in Białystok

Sick adults are no longer eligible for treatment in these centers.

More about tuberous sclerosis can be found on the website of the Association of Patients with Tuberous Sclerosis: www.stwardnienie-guzowate.eu. Contact: [email protected]

Source:

Publication en titled "TUBEROUS SCLEROSIS - A COMPREHENSIVE TREATMENT NEEDED", prepared on the occasion of the World Tumor Sclerosis Patients Day by the Polish Society of Pediatric Oncology and Hematology and the Society of Tumor Sclerosis Patients, in cooperation with the "Cancer. It heals! ”

Category:

Genetic diseases