Tuberous sclerosis, tuberous sclerosis complex (TSC)

Diagnosis  

The diagnosis of tuberous sclerosis complex requires discussing one’s symptoms and family history, conducting a physical examination, and ordering several tests.  

Major features include three or more ash leaf spots, multiple facial fibromas, a Shagreen patch, fibromas on fingernails or toenails, specific types of brain or heart growths, and benign tumors in the lungs, kidneys, or lymph nodes. Minor features are smaller signs such as confetti–like skin lesions, pits in teeth enamel, multiple growths in the mouth or on retinas, kidney cysts, and benign growths in other organs.  

Tests that may be ordered include:  

• Physical examination: During a physical examination, healthcare providers usually look for growths, or noncancerous tumors, or at a range of signs and symptoms that are classified into major and minor features. A definite TSC diagnosis requires at least two major features.   
• Eye examination: The retina and other internal components of the eye are examined using a light source and magnifying glass.   
• Dental examination: This may require X–rays of the jaws and teeth to thoroughly examine the interior of the mouth and the teeth.   
• Electroencephalogram (EEG): If one is experiencing brain–related symptoms, like seizures, this test may be required. An EEG can assist in identifying the cause of seizures by recording electrical activity in the brain.   
• Imaging tests: Magnetic resonance imaging (MRI), computed tomography (CT) scan, and ultrasound are used to find abnormal growths or changes in the body. Ultrasound, also known as sonography, uses high–frequency sound waves to create images of organs like the liver, heart, or kidneys. A CT scan uses X–rays to make cross–sectional or 3D images of the brain or other body parts. While an MRI creates detailed pictures of the brain or other areas using magnetic fields and radio waves.   
• Cardiac tests: An electrocardiogram, also known as an ECG or EKG, records the electrical signals from the heart to see if there are any irregularities in the heartbeat or rhythm. While an echocardiogram uses sound waves to create images of the heart, showing how well it is working and if there is any damage.   
• Assessment of developmental or mental health: This evaluation helps identify issues like behavioral or emotional disorders in children, developmental delays, learning or functioning difficulties, and educational or social challenges.   
• Genetic testing: For individuals with TSC, genetic counseling before starting a family provides insights into their chances of passing on the condition.   

Generally, genetic testing is crucial for detecting TSC as 75% to 95% of cases have a mutation in the TSC1 or TSC2 gene. This can be useful when there is no family history of the condition. If a child is diagnosed with TSC, it can be beneficial for the parents to consider getting tested too, as this can reveal whether the condition has a genetic link.   

Treatment  

While tuberous sclerosis currently lacks a cure, treatment options are available and tailored based on the specific symptoms experienced by individuals.   

Common treatments include:  

• Medications: Various medications can help manage symptoms of TSC depending on one’s symptoms, health history, and personal needs. Skin growths similar to acne may be treated with sirolimus, a medication, in the form of topical ointment. When surgical excision is not an option for some kinds of brain and kidney growths, a medication known as everolimus may be utilized.   

Patients may receive anti–seizure medication as part of their treatment plan. Additionally, other medications might be prescribed to address behavioral concerns, irregular heartbeat, or other associated symptoms.  

• Surgery: Surgery might be needed to remove growths that are affecting different organs or body systems. Skin growths may appear better after surgical techniques like dermabrasion or laser treatment. Surgery can occasionally be performed to treat seizures brought on by brain tumors that are resistant to medication.   
• Therapy: Children’s capacity to organize everyday activities and chores might be enhanced by certain therapies. Therapies include early intervention programs like speech, physical, or occupational therapy.   
• Educational and support services: For managing behavior, social, or emotional issues, specialized healthcare providers can offer guidance. Early intervention and special needs services can support children with developmental delays and behavior issues to adapt to school and reach their full potential. Social, vocational, and rehabilitation services might continue to support them throughout their lives.  
• Continued monitoring: Maintaining a consistent schedule for regular check–ups and tests is crucial for early detection and management of potential issues, thus reducing the risk of complications in the future. Given that tuberous sclerosis is a lifelong condition with symptoms that may manifest over years, ongoing monitoring is essential.