Tuberous Sclerosis Treatment in Delhi, India

Tuberous Sclerosis is a rare genetic multisystem disorder that manifests as benign or non-cancerous tumours, which may develop in different parts of the body. The disease appears shortly after birth; however, it may not lead to any obvious harm immediately.

Associated Anatomy of Tuberous Sclerosis

The tumour in tuberous sclerosis may impact the eyes, skin, brain, lungs, kidneys, and heart. However, it is not limited to these body parts only.

Tuberous Sclerosis Causes

Any mutation in the TSC1 or TSC2 genes (responsible for controlling hamartin and tuberin, respectively) can cause Tuberous Sclerosis. These genes together help to regulate the size, division, and growth of cells.

Tuberous Sclerosis Symptoms

The symptoms of tuberous sclerosis can vary from case to case. The most common symptoms include:

• The appearance of light-coloured skin patches, small and harmless thickening of the skin, or reddish bumps under or around the nails. Acne like growth in the face in early childhood is also common.
• Cognitive disabilities and developmental delays can also occur as a symptom of tuberous sclerosis. Mental health disorders, such as ADHD and autism spectrum disorder, can also be associated with this condition.
• Tumour growth in the brain may even lead to seizures as the first symptoms among children.
• Heart issues, such as abnormal growth in the heart, may be a symptom of tuberous sclerosis. Herein, growths in the heart are largest at birth and shrink over time.
• Behavioural problems may include self-injury, aggression, hyperactivity, and problems with emotional or social adjustment.
• Non-cancerous growths in the kidney can also be a symptom of this condition.
• Growths may develop in the lungs, causing shortness of breath or coughing during exercise or physical activity.
• Growths may develop in the eye in the form of white patches on the retina. They may not necessarily interfere with vision.

Tuberous Sclerosis Diagnosis

Depending on the symptoms, several tests may be conducted to diagnose the condition. These could include evaluation of seizures with the electroencephalogram, Magnetic Resonance Imaging (MRI), Computerised Tomography (CT) scan, and ultrasound for the evaluation of kidneys, lungs, and liver. Echocardiogram or Electrocardiogram testing could also be done for heart evaluation. Examination of the eye, routine developmental screening, and genetic screening are also used as diagnostic tools.

Tuberous Sclerosis Treatment

While there is no cure for tuberous sclerosis treatment that can help manage the symptoms.

• In terms of medications, anti-seizure medications may be used to manage seizures. Drugs can also be prescribed for behaviour problems, heart arrhythmias, acne-like skin growths, and certain types of growths in the brain and kidney which cannot be surgically removed.
• Surgery may be done to remove certain growths affecting the function of an organ, such as the heart or kidney. Surgeries can also help control seizures caused by growths in the brain (if they do not respond to medication). Laser treatment can be done to improve the appearance of skin growths.
• Early intervention therapy, including physical, occupational, or speech therapy, can help special needs children with tuberous sclerosis. Children can learn to manage their day-to-day activities.
• Behaviour and psychiatric management can help children adjust to conditions and address social, behavioural, or emotional issues.

Risk Factors of Tuberous Sclerosis

The following factors may increase the risk of contracting tuberous sclerosis:

• Inheritance: The status of a copy of the genes has a 50% chance to be passed on in pregnancy from the autosomal dominance in either the mother or the father.
• Random error in cell division: The two genes (TSC1 or the TSC2) act as tumour suppressors, and new mutations in either can cause the disease.

Possible Complications of Tuberous Sclerosis

The manifestation of the condition in multiple organs may increase the complications related to the disease.

In newborns, Cardiac rhabdomyoma (or tumour in the heart) can be fatal. Among the possible complications is the impact on the kidney. The conditions can lead to renal lesions, cysts, polycystic kidney disease, or renal cell carcinomas among patients. Asymptomatic renal angiomyolipomas are also common.

The lesions can lead to bleeding and rupture. They can also lead to hematuria, haemorrhage, tender abdominal mass, or flank pain.

In the lungs, Lymphangiomyomatosis may develop, which is characterised by cystic changes in the lungs. Possible complications may include manifestation in the central nervous system, including those of cortical or subcortical tubers, subependymal nodules, and symptomatic subependymal giant cell astrocytomas (SEGA). The tubers can lead to seizures or cognitive impairment among the patients.

Tuberous Sclerosis Prevention

As the disease is genetically related, there is no primary prevention. In case of a family history of tuberous sclerosis, one must consult a genetic counsellor. They must also keep in contact with the doctor at all times to chart and understand the child’s development.

Epidemiology of Tuberous Sclerosis

Tuberous sclerosis impacts 1 in 6000 to 10,000 live births. The prevalence overall is determined to be around 1 in 20,000 individuals. Due to the autosomal dominant nature of tuberous sclerosis, it has an equal chance of occurrence in males and females. It can occur in any ethnical or racial group. However, in females, the morbidity and mortality related to benign lung tumours are more.

Expected Prognosis of Tuberous Sclerosis

The disease prognosis varies from patient to patient, depending on the severity of the symptoms. By paying attention to specific issues related to tuberous sclerosis, individuals with mild symptoms have a normal life expectancy. However, those severely impacted may show signs of persistent epilepsy or severe mental retardation.

Natural Progression of Tuberous Sclerosis

If not treated, tuberous sclerosis can be life-threatening as the patient may develop symptoms related to kidney lesions, brain tumours, heart tumours, or lung lesions.

Pathophysiology of Tuberous Sclerosis

Being genetically related, tuberous sclerosis has a very broad clinical spectrum. It can impact nearly every organ system. The mutation in TSC1 and TSC2 genes makes the body incapable of regulating cell division, thus causing the tumour to grow in various locations.