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Tuberous Sclerosis

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Overview of Tuberous Sclerosis

Tuberous Sclerosis Meaning in Urdu

اس بیماری کی وجہ سے دماغ اور جسم کے دوسرے حصوں جیسا کہ ریڑھ کی ہڈی، اعصاب، آنکھوں، پھیپھڑوں، دل، گردوں، اور جِلد میں ٹیومر بن جاتے ہیں، لیکن یہ ٹیومر کینسر کی وجہ سے نہیں بنتے۔ یہ بیماری بہت سی طبی علامات کی وجہ بھی بنتی ہے۔ ان علامات میں جِلد کی رنگت تبدیل ہو جانا، رویے میں تبدیلی، گردوں کے مسائل، دل کی بیماریاں، اور اچانک دورہ پڑنا شامل ہے۔ اس بیماری کی وجہ سے دماغ میں سیال جمع ہو سکتا ہے اور دل کو خون فراہمی میں بھی تعطل پیدا ہو سکتا ہے، جب کہ کئی مرتبہ اس کی وجہ سے گردے بھی فیل ہو سکتے ہیں۔

Definition

Tuberous sclerosis (TSC) is a rare genetic disorder that causes the growth of benign tumors in various parts of the body, including the brain, heart, kidneys, lungs, and skin. These tumors are called hamartomas and can cause many symptoms and complications, depending on their location and size.

Symptoms can vary widely, but common signs of Tuberous sclerosis include seizures, intellectual disability, developmental delay, skin abnormalities, and kidney problems.

Prevalence of Tuberous Sclerosis

Globally, Tuberous Sclerosis is prevalent with an incidence of 1 in 5,000 to 10,000 live births. It can affect people of all races and ethnicities, and genders.

Signs and Symptoms of Tuberous Sclerosis

The symptoms of tuberous sclerosis can vary greatly depending on the location and size of the tumors and can range from mild to severe. Some common symptoms include:

  1. Skin Abnormalities: Approximately 90% of individuals with tuberous sclerosis develop skin abnormalities, such as patches of light-colored skin or red bumps on the face, neck, or torso.
  2. Seizures: Up to 80% of people with tuberous sclerosis experience seizures at some point in their lives.
  3. Intellectual Disability: About 50-60% of people with tuberous sclerosis have some degree of intellectual disability.
  4. Behavioral Issues: Some people with tuberous sclerosis may exhibit behavioral problems such as hyperactivity, aggression, or self-injury.
  5. Developmental Delays: Many children with tuberous sclerosis experience delays in reaching developmental milestones, such as sitting, crawling, and walking.
  6. Vision Problems: Tumors in the eyes can cause vision problems such as blurriness or loss of vision.
  7. Kidney Problems: Tumors in the kidneys can cause high blood pressure or kidney failure.
  8. Lung Problems: Tumors in the lungs can cause coughing, difficulty breathing, or collapsed lungs.

It's important to note that not all individuals with tuberous sclerosis will experience all of these symptoms, and some may only have mild symptoms.

Types of Tuberous Sclerosis

There are two types of tuberous sclerosis:

  1. Tuberous Sclerosis Complex 1 (TSC1): This type of tuberous sclerosis is caused by a mutation in the TSC1 gene, which provides instructions for making the protein hamartin. TSC1 is less common than TSC2 and tends to cause milder symptoms.
  2. Tuberous Sclerosis Complex 2 (TSC2): This type of tuberous sclerosis is caused by a mutation in the TSC2 gene, which provides instructions for making the protein tuberin. TSC2 is the more common type of tuberous sclerosis and tends to cause more severe symptoms.

It is important to note that the symptoms and severity of tuberous sclerosis can vary widely, even among people with the same type of genetic mutation.

Causes of Tuberous Sclerosis

Tuberous sclerosis is a genetic disorder. It means it occurs due to mutations in genes that affect the growth and division of cells. The two genes most commonly associated with tuberous sclerosis are TSC1 and TSC2.

In most cases, tuberous sclerosis is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. However, in some cases, the mutation may occur spontaneously, meaning that it is not inherited from a parent but occurs during the formation of an egg or sperm or early fetal development.

However, not everyone who inherits a mutated TSC1 or TSC2 gene will develop tuberous sclerosis. The severity and symptoms of the condition can vary widely, even among people with the same genetic mutation. Other factors, such as environmental factors and additional genetic mutations, may also contribute to the development and progression of the condition.

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Risk Factors of Tuberous Sclerosis

The risk factors for tuberous sclerosis include:

  • Family history: If a person has a family member with tuberous sclerosis, their risk of developing the condition is increased.
  • Genetic mutations: Mutations in the TSC1 or TSC2 genes are the primary cause of tuberous sclerosis. These mutations can be inherited from a parent or can occur spontaneously.
  • Age: Tuberous sclerosis can affect people of any age, but symptoms often appear in infancy or early childhood.
  • Gender: Tuberous sclerosis affects both males and females equally.
  • Race: Tuberous sclerosis occurs in all racial and ethnic groups.
  • The severity of genetic mutations: The severity of the TSC1 or TSC2 mutations can affect the severity of the symptoms of tuberous sclerosis.
  • Environmental factors: There is some evidence to suggest that environmental factors, such as prenatal exposure to certain chemicals or toxins, may increase the risk of developing tuberous sclerosis.

Complications

Tuberous sclerosis can cause a range of complications depending on which organs are affected. Some of the most common complications include:

  • Epilepsy: Seizures are one of the most common symptoms of tuberous sclerosis, affecting up to 80% of patients. Seizures can be difficult to control and may cause cognitive and behavioral problems.
  • Intellectual disability: Intellectual disability is a common complication of tuberous sclerosis, affecting up to 50% of patients. The severity of intellectual disability can vary widely, from mild learning difficulties to severe intellectual disability.
  • Behavioral problems: Behavioral problems are common in patients with tuberous sclerosis, including autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), and obsessive-compulsive disorder (OCD).
  • Skin problems: Tuberous sclerosis can cause a range of skin problems, including facial angiofibroma, shagreen patches, and hypomelanotic macules.
  • Kidney problems: Tuberous sclerosis can cause kidney tumors, called renal angiomyolipomas, which can lead to kidney failure if left untreated.
  • Lung problems: Tuberous sclerosis can cause lung tumors, called lymphangioleiomyomatosis (LAM), which can cause breathing difficulties and respiratory failure.
  • Eye problems: Tuberous sclerosis can cause eye tumors, called retinal hamartomas, which can cause vision problems and may require treatment.
  • Cardiac problems: Tuberous sclerosis can cause cardiac rhabdomyoma, which are benign tumors that can affect the heart's function.
  • Bone problems: Tuberous sclerosis can cause bone cysts and deformities, which can lead to fractures and other skeletal problems.
  • Cancer: Although rare, tuberous sclerosis can increase the risk of certain types of cancer, including renal cell carcinoma and angiomyolipoma.

Individuals with tuberous sclerosis need to receive regular medical follow-up and treatment for any complications that arise.

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Prevention

Tuberous sclerosis is a genetic disorder that cannot be prevented, as it is caused by mutations in the TSC1 or TSC2 genes. These mutations can occur spontaneously, meaning that they are not inherited from a parent, or they can be inherited in an autosomal dominant pattern.However, genetic counseling and testing can help identify individuals who may be at risk of developing tuberous sclerosis or passing the condition on to their children. If a person has a family history of tuberous sclerosis or a known TSC1 or TSC2 gene mutation, they may wish to undergo genetic testing to determine their own risk.

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Diagnosis

The diagnosis of tuberous sclerosis is usually based on a combination of clinical features, family history, and imaging studies. 

The diagnostic criteria for tuberous sclerosis include:

  • Two or more of the following major features:
    • Facial angiofibroma or forehead plaques
    • Nontraumatic ungual or periungual fibromas
    • Hypomelanotic macules (3 or more)
    • Shagreen patch
    • Multiple retinal hamartomas
    • Cortical dysplasias, subependymal nodules, or subependymal giant cell astrocytoma (SEGA)
  • One or more of the following minor features:
    • Multiple renal cysts
    • Nonrenal hamartomas
    • Multiple pits in dental enamel
    • Bone cysts or other skeletal abnormalities
    • Cerebral white matter radial migration lines
    • Gingival fibromas
  • Confirmed pathogenic mutation in the TSC1 or TSC2 gene
  • Imaging studies, such as magnetic resonance imaging (MRI) or computed tomography (CT) scans, may be used to evaluate for the presence of tumors or cysts in the brain, kidneys, or other organs.
  •  Electroencephalography (EEG) may be used to evaluate seizure activity.

If a person meets two or more major criteria or one major and two or more minor criteria, a diagnosis of tuberous sclerosis can be made. Genetic testing can also be used to confirm the diagnosis in some cases.

Individuals with suspected tuberous sclerosis need to receive a thorough evaluation by a healthcare provider with experience in diagnosing and managing the condition. A prompt and accurate diagnosis can help ensure appropriate treatment and management of symptoms.

Treatment of Tuberous Sclerosis | When to Consult a Doctor

There is no cure for tuberous sclerosis, but treatment options are available to help manage symptoms and prevent complications. Treatment may include:

  • Medication: Medications can be used to manage seizures, behavioral problems, and other symptoms of tuberous sclerosis. Anti-seizure medications, such as carbamazepine or lamotrigine, are commonly used to control seizures. Other medications, such as antipsychotics or mood stabilizers, may be used to manage behavioral problems.
  • Surgery: Surgery may be required to remove tumors or cysts that are causing symptoms or complications. For example, surgery may be used to remove a subependymal giant cell astrocytoma (SEGA) that is causing obstructive hydrocephalus or to remove a renal angiomyolipoma that is at risk of bleeding.
  • Supportive therapies: Supportive therapies, such as occupational therapy, speech therapy, or physical therapy, may be used to address developmental or cognitive delays, communication difficulties, or other functional problems.
  • Surveillance: Regular monitoring with imaging studies, such as magnetic resonance imaging (MRI) or computed tomography (CT) scans, is important to monitor for the development of tumors or other complications.
  • Genetic counseling: Genetic counseling and testing may be recommended for individuals with tuberous sclerosis or their family members to assess their risk of developing the condition or passing it on to their children.
  • Clinical trials: Clinical trials may be available for individuals with tuberous sclerosis who are interested in participating in research studies to help develop new treatments or improve existing ones.

As Tuberous Sclerosis is a pediatric disease, individuals with tuberous sclerosis need to have regular appointments with their pediatrician to develop a comprehensive treatment plan that addresses their specific needs and concerns. Regular follow-up and monitoring are important to manage symptoms and prevent complications.

 

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