Tuberous sclerosis is a multisystem genetic disease that causes development of noncancerous tumors in different parts of the body. This article discusses the symptoms of the same.
Tuberous sclerosis is a rare genetic disorder that causes abnormalities in vital organs of the body including the brain, heart, kidneys, and lungs. This disease is a result of genetic mutations which cause benign tumors to grow in different parts of the body. It affects the central nervous system and can cause serious health complications.
Causes
Tuberous sclerosis is a rare genetic disorder in humans. It occurs as a result of mutations in two genes, TSC1 and TSC2. Under normal conditions, these genes are responsible for controlling the abnormal growth of cells. They prevent the cells from growing too fast or in an uncontrolled manner. Mutation or change in these genes causes the cells to grow at a faster rate, thus creating tumors. Since this is a genetic disease, it can be passed on from one generation to another.
Symptoms
This disease is characterized by the formation of several non cancerous tumors in different parts of the body. These benign tumors can be found on the skin, kidneys, brain, heart, and lungs. They can also be found on the light sensitive tissue of the eye. The symptoms may vary depending on the location of these tumors.
Skin Disorders
It is estimated that 90% of people suffering from tuberous sclerosis are diagnosed with skin abnormalities. Facial lesions, patches of light colored skin, thickened skin, and abnormal growth of cells under or around the nails are some of the common skin disorders associated with this condition.
Neurological Abnormalities
Tumors present in the brain hinder with its functioning and can result in certain neurological disorders. Seizures, epilepsy, retardation, difficulty in learning and concentrating, hyperactivity, impulsive behavior, autism, aggressive outbursts, anxiety, and depression, are some examples of neurological symptoms of this condition.
Heart Problems
Tumors in the heart can lead to serious complications. It is estimated that about 50 to 70% of infants who are born with this condition, develop one or more noncancerous tumors inside their heart. However, this condition is generally asymptomatic and the tumors shrink and disappear as the child grows up. In rare cases, these tumors can block the flow of blood inside the heart and cause serious complications. Palpitations, breathlessness, dizziness, fainting, and chest pains are some symptoms associated with heart problems.
Kidney Diseases
Tumors present in the kidneys are potentially dangerous and can even be life-threatening. These tumors are referred to as angiomyolipomas, and are composed of fat, muscles, and blood vessels. These tumors can affect the working of the kidneys and cause symptoms similar to other kidney diseases including nausea, shortness of breath, tiredness, blood or protein in the urine, and frequent urination.
Tumors can also develop in the lungs and eyes. The aforementioned signs are not very evident in the initial stages, however, as the tumor grown in size, the signs star surfacing.
Unfortunately, there is no cure for this condition, and treatment mainly involves dealing with its symptoms. However, diagnosis at an early stage can help reduce the severity of the condition and save you from a number of health hazards.
