Tuberous sclerosis complex (TSC), also known as tuberous sclerosis, is a rare genetic disease that causes non-cancerous (benign) tumors to grow in the brain and several areas of the body, including the spinal cord, nerves, eyes, lung, heart, kidneys, and skin.
Tuberous sclerosis complex (TSC) affects different parts of the body to varying degrees of severity. Its common characteristic is the formation of non-cancerous tumours in the brain and other organs, including the kidneys, heart, liver and lungs.
Tumors, cysts, and other types of lesions of the kidney are common among people who have tuberous sclerosis complex (TSC). In fact, kidney problems are the third most common manifestation of the disorder, after brain and skin lesions.
Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin.
Tuberous sclerosis complex (TSC) causes benign tumors and cysts to develop in many organ systems, including the lungs. Wherever such lesions occur in the body, they tend to crowd normal tissues and, in some cases, inhibit organ function.
Tuberous Sclerosis Complex (TSC) commonly leads to abnormalities of the heart and blood vessels from birth, the most common being the abnormal growth of the heart. TSC can impact on the heart in multiple ways and to various degrees, some of which may require regular monitoring or treatments and interventions.
Tuberous sclerosis complex (TSC), also known as tuberous sclerosis, is a rare genetic disease that causes non-cancerous (benign) tumors to grow in the brain and several areas of the body, including the spinal cord, nerves, eyes, lung, heart, kidneys, and skin.
Types of behavioral problems associated with TSC include sleep disturbances, attention deficit, hyperactivity, aggressiveness, anxiety, autism, and depression. Like other TSC-related manifestations, the severity of these behavioral disorders ranges widely from mild to debilitating.
What is the normal life expectancy of a person with TSC? Most people will have a normal life span. There can be complications in organs such as the kidneys and brain that can lead to severe difficulties and even death if left untreated.
Tuberous sclerosis can cause mild disease in which individuals go undiagnosed into adulthood or it can cause significant complications that can impact quality of life or the disorder can cause potentially severe, life-threatening complications.
Interpretation: Renal disease is a major cause of mortality in TSC. Lifelong surveillance and early intervention is warranted. SUDEP is also an important cause of mortality.
Tuberous sclerosis complex affects 1 in 6,000 to 10,000 people.
Epilepsy is the most common presenting symptom in tuberous sclerosis. In 98% of these patients seizure is discovered and 75% of them have a seizure attack in the first year of life (4).
TSC (Tuberous Sclerosis Complex) is a rare genetic condition that causes tumours to grow in major organs of the body. It affects more than 2,000 people in Australia and thousands more families and friends.
What are the estimated cancer risks associated with TSC? Both kidney cancer and brain cancer have been seen in people with TSC. The risk of kidney cancer is estimated to be about 4%. The risk of the brain cancer SEGA is estimated to be up to 14%.
These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts, and less commonly, oncocytomas.
Girls and boys have an equal risk of having the condition. A change in only one copy of a gene causes TSC. A child can inherit the condition if either parent has it. People with tuberous sclerosis have a 50 percent chance of passing the condition to their children.
You can apply for Social Security disability benefits with tuberous sclerosis. When the SSA considers your claim, the main determining factor will be the severity of your symptoms. You may also qualify for SSI if you have a dependent child who has TSC and you are in sufficient financial need.
Tuberous sclerosis is an autosomal dominant disease, which leads to the assumption that it occurs equally in both females and males.
An estimated 40-50 percent of individuals with TSC have autism spectrum disorder, making TSC a leading genetic cause of syndromic autism. Other common TSC-associated neuropsychiatric disorders (TAND) include intellectual disabilities and behavioral difficulties.
Complications of neurological involvement are the most common causes of mortality and morbidity. These are due chiefly to intractable epilepsy, status epilepticus, and subependymal giant cell astrocytoma (SEGA) with associated hydrocephalus. Renal complications are the next most frequent cause of morbidity and death.
The predominant neurological manifestations of TSC are seizures, mental retardation, and behavioral abnormalities, with seizures being the most common initial sign of central nervous system involvement.
There is good news for tuberous sclerosis complex (TSC) patients. The U.S. Food and Drug Administration (FDA) on 4 April 2022 approved the use of Noblepharma's HYFTOR™ (sirolimus topical gel) 0.2%, a treatment for facial angiofibromas (facial tumors) in adults and children 6 years of age and older.
Everolimus is a type of mTOR inhibitor, which interrupts or blocks the chemical reactions needed for tumours to grow. These inhibitors are a useful treatment for some of the problems caused by tuberous sclerosis.
A seizure is often the first symptom of tuberous sclerosis. In small children, a common type of seizure called infantile spasm involves stiffening of the arms and legs and arching the back and head. Problems in thinking, reasoning and learning. Tuberous sclerosis can result in developmental delays.