Tuberous Sclerosis

Here you will get an overview of the pathology, the ability to treat diseases with Oriental medicine, and with acupressure therapies along with other therapies combined.

The information is updated gradually and regularly. For reference only, not a substitute for your doctor.

Tuberous Sclerosis (TS), also known as Bourneville's disease, is a rare genetic disorder that causes non-cancerous tumors to develop in various organs of the body. These tumors are often referred to as tubers or hamartomas and can occur in the brain, kidneys, heart, lungs, skin, and other organs.

Causes:

TS is caused by mutations in either the TSC1 or TSC2 gene. These genes provide instructions for making proteins that act as tumor suppressors, which help to prevent cells from growing and dividing too rapidly or in an uncontrolled way. When one of these genes is mutated, it can no longer perform its normal tumor-suppressing function, leading to the development of tumors. The disease is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one mutated copy of the TSC1 or TSC2 gene from either parent to develop the disorder.

Risk factors:

TS is a genetic disorder, so the most significant risk factor is having a family history of the condition. However, it is also possible for a person to develop TS spontaneously, without any family history of the disorder. In some cases, TS can be diagnosed prenatally through genetic testing.

Symptoms:

The symptoms of TS can vary widely depending on which organs are affected and how severely. Some people with TS may have only mild symptoms, while others may have severe and life-threatening complications. Common symptoms of TS include seizures, intellectual disability, developmental delays, skin lesions, and tumors in the kidneys, heart, and lungs. Other symptoms may include autism spectrum disorder, behavior problems, and sleep disorders.

Complications:

The complications of TS can be severe and life-threatening. For example, seizures can be difficult to control and can lead to injuries or accidents. Tumors in the kidneys can lead to kidney failure, while tumors in the heart can cause arrhythmias or heart failure. Lung tumors can cause breathing problems or even collapse of the lung. Additionally, the skin lesions associated with TS can be unsightly and may require treatment.

Prevention and treatment:

There is no known way to prevent TS, as it is a genetic disorder. Treatment options for TS depend on the symptoms and complications present. For example, seizures may be treated with anti-seizure medications or surgery, while tumors in the kidneys or other organs may require surgical removal. Behavioral therapy may be helpful for people with autism spectrum disorder or behavior problems. Additionally, people with TS should receive regular medical checkups to monitor for any complications and receive appropriate treatment.

Oriental medicine:

Oriental medicine, including acupuncture and acupressure, may be useful in managing some of the symptoms of TS, such as seizures and behavioral problems. However, more research is needed to determine the effectiveness of these therapies for TS specifically. As with any alternative therapy, it is important to consult with a qualified practitioner and to continue receiving conventional medical care.

Conclusion:

In conclusion, Tuberous Sclerosis is a rare genetic disorder that causes non-cancerous tumors to develop in various organs of the body. It is caused by mutations in either the TSC1 or TSC2 gene, and there is no known way to prevent it. Treatment options depend on the symptoms and complications present, and regular medical checkups are important for monitoring any potential complications. While Oriental medicine may be helpful in managing some symptoms, it should be used in conjunction with conventional medical care.

References: