How to Diagnose Tuberous Sclerosis, Is Cancer Curable

How to Diagnose Tuberous Sclerosis, Is Cancer Curable

Tuberous sclerosis (TSC) is a genetic disorder that causes the growth of benign tumors in different parts of the body, including the kidneys, skin, heart, lungs, eyes, or brain. Because symptoms vary significantly depending on where the tumors develop, diagnosing TSC can be a long process. If you suspect you or your child may be prone to TSC, be on the lookout for symptoms of the disease, which can manifest in physical or behavioral changes. If any symptoms manifest, see your doctor for a physical evaluation. To confirm a diagnosis, genetic testing is required.



Method 1 Recognizing Symptoms of Tuberous Sclerosis.

1. Be on the lookout for seizures. If you develop growths on the brain, you might experience seizures as a symptom of tuberous sclerosis. In very small children, repetitive spasms of the legs and head can be caused by tuberous sclerosis.

2. Track any behavioral issues and developmental delay. TSC growths on the brain can change behavior, especially in children. Hyperactivity, a tendency toward self-injury, aggression, or social or emotional problems can all be symptoms of TSC.

3. Pay attention to breathing ability. If TSC growths develop on the lungs, you might develop breathing issues. If you notice you're coughing quite a bit more than you usually do, or if you suddenly develop shortness of breath, especially during exercise, see your doctor.

4. Check your eyes. If you develop TSC growths on your eyes, your vision might not necessarily be affected. However, if you notice a white patch anywhere on your eye, but especially in your pupil, see your doctor. TSC growths in the retina can look like white patches on the pupil.

5. Look for skin abnormalities. There a couple of different skin abnormalities that can appear if you have tuberous sclerosis. Look for patches of skin that are lighter in color than the rest of your skin tone. You should also look for small patches of thickened, smooth skin, as well as red bumps under or around your fingernails.

Some children might develop growths on their faces similar to acne.

6. Check for kidney disease. More than 80% of people with TSC will develop some form of kidney disease, which can be diagnosed with renal ultrasonography, CT scanning, and MRI tests. If you’re worried about this possibility, talk to your doctor about scheduling these tests. The most common types of kidney disease for TSC patients include.

Renal angiomyolipoma, the most common form of kidney disease among TSC patients. It involves weakening blood vessels in the kidney, which can burst and bleed.

Renal cysts. These are small, benign growths in the kidney. They don’t typically cause discomfort but can lead to higher blood pressure, which can be an early warning sign.

Renal cell carcinoma, a cancerous lesion on the kidney, the most rare form of kidney disease in TSC patients. Symptoms include blood in the urine, pain in your back and side, and loss of appetite.