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Managing Tuberous Sclerosis: Treatment Options

Sandeep Dhanyamraju
Medically reviewed by Chaitanya Bonda
Sandeep Dhanyamraju
Medically reviewed by Chaitanya Bonda

Tuberous sclerosis is a rare genetic disorder. It affects different organs in the body. It causes noncancerous tumors called hamartomas. And it can lead to various signs and complications.

To effectively control tuberous sclerosis, a comprehensive therapy approach is necessary. The goal is to:

  • Control signs.
  • Prevent complications.
  • Improve the person’s quality of life.

Tuberous sclerosis treatment involves a team of healthcare professionals. It includes neurologists, dermatologists, and genetic counselors. Medications can control convulsions and behavioral issues. Surgery can remove tumors or control specific problems. Also, therapies like physical, occupational, and speech therapy can help. They address developmental delays and improve functioning.

Ailment control is a complex task. But with the right tuberous sclerosis treatment, individuals with this ailment can lead better lives.

Understanding Tuberous Sclerosis 

Tuberous sclerosis disease is also known as tuberous sclerosis complex. It’s a rare genetic disorder that affects various organs in the body. The growth of noncancerous tumors characterizes it called hamartomas in:

  • The brain.
  • Skin.
  • Kidneys.
  • Heart.
  • Lungs.

Our data shows that the symptoms of tuberous sclerosis can vary widely among people. Common signs include convulsions, cognitive difficulties, developmental delays, skin deviations, and kidney problems. The ailment is typically diagnosed in childhood or infancy. However, doctors can identify it later in life.

Mutations in either the TSC1 or TSC2 genes cause ailment. They regulate cell growth and division. Tuberous sclerosis diagnosis often involves genetic testing and clinical evaluation.

There is no cure for the ailment. But healing aims to control signs and improve quality of life. This may involve:

  • Medications to control convulsions.
  • Surgical removal of tumors.
  • Therapies to address developmental delays.
  • Regular monitoring of affected organs.

Understanding ailment is crucial for early detection and appropriate healing.

tuberous sclerosis diagnosis

How Is Tuberous Sclerosis Diagnosed?

The next steps help to diagnose the illness:

  • Clinical Evaluation. Diagnosis begins with a thorough clinical evaluation. It includes a detailed medical history and physical examination.
  • Observation of Signs. The presence of specific signs may raise suspicion of ailment. The signs are convulsions, developmental delays, skin deviations, kidney problems,
  • Genetic Testing. Genetic testing is common in tuberous sclerosis diagnosis. It’s used to confirm the diagnosis of the ailment. It involves analyzing the TSC1 and TSC2 genes for mutations or deletions.
  • Imaging Tests. Magnetic resonance imaging (MRI) or computed tomography (CT) scans can help. It’s to detect the presence of tumors or deviations in affected organs.
  • Electroencephalogram (EEG). An EEG checks brain activity and identifies abnormal electrical patterns.
  • Skin Biopsy. Doctors can take a small sample of skin. And they examine it under a microscope. It’s to identify characteristic skin deviations associated with the ailment.
  • Cardiac Evaluation. An echocardiogram may help in tuberous sclerosis diagnosis. It’s to assess the heart for cardiac tumors or other deviations.

Medication Options for Tuberous Sclerosis

According to our experience, medication options for tuberous sclerosis disease:

  • Antiepileptic Drugs (AEDs). Antiepileptic medications are commonly prescribed to control convulsions. They are a common symptom of tuberous sclerosis. Examples include carbamazepine, lamotrigine, and topiramate.
  • Vigabatrin. This medication is specifically used for the healing of infantile spasms. It’s a type of convulsion commonly associated with the ailment.
  • Everolimus. Everolimus is an mTOR inhibitor. It can help shrink and control the growth of certain tumors. They’re associated with the ailment, particularly kidney tumors.
  • Sirolimus. Like everolimus, sirolimus is also an mTOR inhibitor. It may treat specific symptoms of tuberous sclerosis. For example, facial angiofibroma (skin lesions).
  • Behavior-Modifying Medications. Individuals with the ailment may benefit from medications. It’s to control behavioral issues such as aggression, hyperactivity, or impulsivity. These may include atypical antipsychotics, mood stabilizers, or selective serotonin reuptake inhibitors (SSRIs).
  • Medications for Other Complications. Depending on the specific signs of tuberous sclerosis disease, doctors can prescribe extra medications. They’re diuretics for kidney problems or medications to control specific cardiac issues.

Antiepileptic Drugs (AEDs)

Antiepileptic drugs (AEDs) are a common class of medications for tuberous sclerosis disease. These medications work by stabilizing abnormal electrical activity in the brain. And they reduce the frequency and severity of convulsions.

There are several types of AEDs that may help in the treatment for tuberous sclerosis. Examples include:

  • Carbamazepine. This tuberous sclerosis treatment is effective in controlling partial and generalized tonic-clonic convulsions. It works by blocking sodium channels in the brain.
  • Lamotrigine. It’s commonly used for various types of convulsions associated with ailment. It includes focal and generalized tonic-clonic convulsions.
  • Topiramate. This tuberous sclerosis treatment is effective in controlling both focal and generalized convulsions. It can also help control associated signs like cognitive difficulties or mood disturbances.
  • Valproic Acid. It’s often prescribed for individuals with ailments who experience multiple convulsion types. It includes focal and absence convulsions.

mTOR Inhibitors

mTOR inhibitors are a class of medications for tuberous sclerosis therapy. They target the mammalian target of the rapamycin (mTOR) pathway. These medications can help in the healing of ailments. It’s to control certain manifestations of the ailment. It’s particularly for tumors associated with the disorder.

This treatment for tuberous sclerosis is commonly prescribed to shrink and control the growth of renal angiomyolipomas. They are kidney tumors frequently seen in the ailment. It works by inhibiting the abnormal cellular signaling pathways. It contributes to tumor growth.

Sirolimus is another mTOR inhibitor. It may treat specific manifestations of ailment. It’s often used to control facial angiofibroma. They are benign skin lesions commonly seen on the face.

mTOR inhibitors can help reduce tumor size. They ease signs and prevent complications associated with this ailment. But these medications may have side effects. And their use should be carefully monitored by healthcare professionals.

symptoms of tuberous sclerosis

Symptoms of Tuberous Sclerosis​​

As shown by our tests, the common signs are:

  • Convulsions. Ailment can cause various types of convulsions. It includes focal and generalized tonic-clonic convulsions.
  • Cognitive Impairments. Individuals may experience intellectual disabilities, learning difficulties, and developmental delays.
  • Skin Deviations. It includes red bumps on the face, light-colored patches, or thick, leathery skin.
  • Kidney Problems. Tuberous sclerosis disease can lead to kidney complications. They are angiomyolipomas (benign tumors), cysts, or kidney failure.
  • Cardiac Issues. Some people may develop cardiac rhabdomyoma or other heart deviations.
  • Lung Involvement. Lung manifestations can include lymphangioleiomyomatosis (LAM). It’s an ailment where abnormal smooth muscle cells invade the lung tissue.
  • Eye Deviations. Tuberous sclerosis can cause retinal hamartomas (benign tumors) or other eye deviations that need treatment.
  • Behavioral Problems. Behavioral issues like aggression, attention-deficit/hyperactivity disorder (ADHD), or autism spectrum disorder (ASD) can occur in individuals with this ailment.
  • Renal Angiomyolipomas. These benign tumors can grow in the kidneys and sometimes cause pain or bleeding.
  • Dental Issues. Some individuals with tuberous sclerosis disease may experience dental deviations. They are enamel defects or tooth decay.

Multidisciplinary Approach to Tuberous Sclerosis Management

Tuberous sclerosis therapy control requires a team of healthcare professionals with different specialties. This approach is called a multidisciplinary approach.

The team consists of doctors from different fields like:

  • Neurology.
  • Dermatology.
  • Nephrology.
  • Cardiology.
  • Genetic counseling.

Each doctor focuses on their area of expertise. It’s to address specific aspects of ailment.

By working together, the team develops personalized treatment for tuberous sclerosis. They track and treat convulsions, skin problems, kidney complications, and heart issues. They also guide genetic factors.

This coordinated approach ensures that individuals receive comprehensive care. Regular communication, early intervention, and personalized healing plans improve outcomes. And they enhance the quality of life for those living with TS.

Management of Skin Manifestations in Tuberous Sclerosis

​​Dermatologists play a crucial role in treating the skin manifestations for tuberous sclerosis. They can provide guidance and healing options for specific skin deviations.

Healing options for skin manifestations may include:

  • Topical Medications. Dermatologists may prescribe topical creams or ointments. Those tuberous sclerosis therapy products contain ingredients like rapamycin or corticosteroids. It’s to reduce the appearance or signs of skin lesions.
  • Laser Therapy. Laser healing can cut the appearance of facial angiofibroma. Or it can improve the texture and color of the skin.
  • Surgical Interventions. In some cases, surgical procedures can be as treatment for tuberous sclerosis. They are electrosurgery, cryosurgery, or laser ablation. They may be recommended to remove bothersome or disfiguring skin lesions.

Regular monitoring by dermatologists is important. It’s to assess changes in skin manifestations over time.

Management of Cardiac and Renal Complications in Tuberous Sclerosis

Cardiologists and nephrologists are crucial multidisciplinary team members. They’re crucial for controlling cardiac and renal complications. They are usually associated with the ailment.

For cardiac complications, tuberous sclerosis therapy may involve regular monitoring. It’s done through echocardiograms to assess tumor growth and function. In some cases, surgical intervention or other specialized procedures may be necessary.

Renal complications like angiomyolipomas or cysts may need regular imaging studies. Those can be ultrasound or CT scans. It’s to track tumor size and potential complications. In cases where the tumors cause significant signs, surgical intervention or targeted therapies like mTOR inhibitors may be considered.

Bottom Line

In conclusion, tuberous sclerosis treatment  requires a comprehensive approach. It includes various options tailored to the individual’s signs and complications. 

Healing may involve medications, behavioral therapies, surge, and targeted therapies.

Regular medical follow-ups and monitoring are crucial. It’s to assess the effectiveness of tuberous sclerosis treatment. And it helps to make any necessary adjustments. 

Healthcare professionals aim to provide individuals the best possible care. They can improve their quality of life and control the ailment to the best extent possible. For this a multidisciplinary approach and staying up-to-date with the latest advancements are must. 

FAQs:

  • What is the treatment for tuberous sclerosis?

The treatment focuses on controlling the symptoms and complications. It often involves a combination of interventions. It includes medications, behavioral therapies, surgical procedures, and targeted therapies. Treatment plans are individual. They’re based on the individual’s specific symptoms and needs.

  • Does tuberous sclerosis get worse?

The progression of TS can vary widely among individuals. Some people may experience stable symptoms or mild progression over time. But others may have more severe and progressive manifestations. Regular medical follow-ups and monitoring are crucial. It’s to assess and manage the condition effectively. 

  • How is tuberous sclerosis diagnosed?

Tuberous sclerosis is typically diagnosed through a combination of:

  • Clinical evaluation.
  • Medical history.
  • Diagnostic tests.

These tests include genetic testing, imaging studies and electroencephalography (EEG).

  • Can tuberous sclerosis be inherited?

Yes, tuberous sclerosis can be inherited in an autosomal dominant pattern. If one parent has the condition, there is a 50% chance of passing it on to their children. But, in some cases, TS may occur spontaneously without a family history of the condition.

  • Can tuberous sclerosis affect lifespan?

The impact of tuberous sclerosis on lifespan varies. It depends on the severity of the symptoms and associated complications. Individuals can lead fulfilling lives with appropriate management and access to medical care. But certain complications can potentially impact lifespan.

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Edward Medina
Edward Medina
15:34 30 Jun 22
Just such an amazing staff that makes you feel like part of their family. I’ve been going there for over 5 years now... and each visit I get the very best care and treatments that I have ever received in the 20+ years that I’ve been dealing with severe debilitating migraines. Since i started seeing them the number of my migraines has dropped from 15-20 a month to 2-3 every 3 month. I highly recommend them …they will change your life!read more
Daneisha Johnson
Daneisha Johnson
22:20 19 May 22
Dr. Askari was very kind and explained everything so I could understand. The other staff were nice as well. I would... have gave 5 stars but I was a little taken aback when I checked in and had to pay 600.00 upfront. I think that should have been discussed in a appointment confirmation call or email just so I could have been prepared.read more
Jean Cooper
Jean Cooper
16:54 29 Apr 22
I love the office staff they are friendly and very helpful. Dr. JODIE is very caring and understanding to your needs... and wants to help you. I will go back. would recommend Dr. Dr. Jodie to other Patients in a heart beat. The team works well together.read more
Linda M
Linda M
19:40 02 Apr 22
I was obviously stressed, needing to see a neurologist. The staff was so patient and Dr. Ansari was so kind. At one... point he told me to relax, we have time, when I was relaying my history of my condition. That helped ease my stress. I have seen 3 other neurologists and he was the only one who performed any assessment tests on my cognitive and physical skills. At one point I couldn't complete two assessments and got upset and cried. I was told, it's OK. That's why you're here. I was truly impressed, and super pleased with the whole experience!read more
Leslie Durham
Leslie Durham
15:05 01 Apr 22
I've been coming here for about 5 years. The staff are ALWAYS friendly and knowledgeable. The Doctors are the absolute... best!! Jodie Moore is always in such a great mood which is a plus when you are already stressed. Highly recommendedread more
Monica Del Bosque
Monica Del Bosque
14:13 25 Mar 22
Since my first post my thoughts have changed here. It's unfortunate. My doctor and PA were great, but the office staff... is horrible. They never call you back when they say they will, they misinform you, they cause you too much stress wondering what's going on, they don't keep you posted. They never answer the phone. At this point I've left four messages in the last week, and I have sent three messages. Twice from their portal and one direct email. No response. My appointment is on Monday morning at 8:30am, no confirmation on my insurance and what's going on. What the heck is going on, this is ridiculous!I've given up... the stress her office staff has put me through is just not worth it. You can do so much better, please clean house, either change out your office staff, or find a way for them to be more efficient please. You have to do something. This is not how you want to run your practice. It leaves a very bad impression on your business.read more
Ron Buckholz
Ron Buckholz
23:32 23 Mar 22
I was actually pleasantly surprised with this visit! It took me a long time to get the appointment scheduled because no... one answers your phones EVER! After a month, I finally got in, and your staff was warm, friendly, and I was totally impressed! I feel like you will take care of my needs!read more
Steve Nabavi
Steve Nabavi
16:28 16 Mar 22
It was a nice visit. Happy staff doing all they can do to comfort the patients in a very calming environment. You ask... me they are earned a big gold star on the fridge. My only complaint they didn't give me any cookies.read more
Katie Lewis
Katie Lewis
16:10 10 Feb 22
Had very positive appointments with Jodie and Dr. Sheth for my migraine care. Jodie was so fast with the injections and... has so much valuable info. I started to feel light headed during checkout and the staff was SO helpful—giving me a chair, water, and taking me into a private room until I felt better. Highly recommend this practice for migraine patients, they know what they’re doing!!read more
Joshua Martinez
Joshua Martinez
16:02 10 Dec 21
I was scheduled to be checked and just want to say that the staff was fantastic. They were kind and helpful. I was... asked many questions related to what was going on and not once did I feel as though I was being brushed off. The front desk staff was especially great in assisting me. I'm scheduled to go back for a mri and am glad that I'll be going there.read more
Isabel Ivy
Isabel Ivy
21:42 03 Nov 21
I had such a good experience with Lone Star Neurology, Brent my MRI Tech was so awesome and made sure I was very... comfortable during the appointment. He gave me ear plugs, a pillow, leg support and blanket, easiest MRI ever lol 🤣 My 72 hour EEG nurse Amanda was also so awesome. She made sure I was take care of over the 3 days and took her time with the electrodes to make sure it was comfortable for me! Paige was also a huge help in answering all my questions when it came to my test results, and letting me know her honest opinions about how I should go forth with my treatment.read more
Leslie Luce
Leslie Luce
17:37 20 Oct 21
The professionalism and want to help attitude of this office was present from the moment I contacted them. The follow... up and follow through as well as their willingness to find a way to schedule my dad was above and beyond. We visited two offices in the same day with the same experience. I am appreciative of this—we spend a lot of time with doctors and this was top notch start to finish.read more
robert Parker
robert Parker
16:38 16 Apr 21
I love going to this office. The staff is friendly and helpful. The doctor is great. I am getting the best... neurological tests and treatment I have ever had. The only reason I did not give them a 5 star rating is because it is impossible to reach a live person at the office to reschedule appointments. Every time I have tried to get through to the office it says all people are busy and I am sent to a voicemail. If they could get their phone answering fixed, I would give them a strong 5 stars.read more
MaryAnn Hornbaker
MaryAnn Hornbaker
00:26 25 Feb 21
Dr. Harney is an excellent Dr. I found him friendly , personable and thorough. I evidently am an unusual case. ... Therefore he spent a Hugh amount of time educating me. He even gave me literature to further explain my condition and how to follow up. This is something you rarely get from your doctors. So I am more than please with my doctor and his staff.read more
Roger Arguello
Roger Arguello
03:05 29 Jan 21
Always courteous, professional. The staff is very friendly and always work with you to find the best appointment time.... The care team has been great. Always taking the time to listen to your concerns and to find the best treatment.read more
Margaret Rowland
Margaret Rowland
01:12 27 Jan 21
I have been a patient at Lone Star Neurology for several years. Now both my adult daughters also are patients there. I... love Jodie. She is always so prompt whether it is a teleamed call are a visit in the office. She takes the time to explain everything to me and answers all my questions. I am so blessed to have Jodie as my doctor.read more
Susan Miller
Susan Miller
03:01 13 Jan 21
My husband had an accident 5 years ago and Lone Star Neurology has been such a blessing to us with my husbands care.... Jodie Moore is his provider and she is amazing! Jodie is very knowledgeable, caring, and thorough. She takes her time with you, making sure your needs are met and she is happy to answer any questions you may have. Lone Star Neurology’s patients are very lucky to have Jodie providing their care. Thank you Lone Star Neurology and especially Jodie for everything you have done for us. Jodie, you are the best!read more
Windalyn C
Windalyn C
01:32 09 Jan 21
Jodie is wonderful. She is very caring and knowledgeable. I have been to over a dozen neurologists, and none were able... to help me as much as they have here. Thanks!read more
Katie Kordel
Katie Kordel
00:40 09 Jan 21
Jodi Moore, nurse practitioner, is amazing. I have suffered from frequent, debilitating headaches for almost 20 years.... She has provided the best proactive and responsive care I have ever received. My quality of life has been greatly improved by her caring approach and tenacity in finding solutions.read more
Ellie Natsis
Ellie Natsis
15:41 07 Jan 21
I have had the best experience at this neurologist's office! For over a year I have been receiving iv treatments here... each month and my nurse, Bobbie is beyond wonderful!! She's so attentive, knowledgeable, caring, and detail oriented. She makes an otherwise uncomfortable experience much more pleasant and definitely puts me at ease! She also helps me with my insurance,ordering this specialty medication and dealing with the ordering process which is no easy feat.Needless to say, she goes above a beyond in every way and I'm so grateful to this office and to Bobbie for all they do for me!read more
Matt Morris
Matt Morris
15:39 07 Jan 21
Let me start by saying that I have been coming here for years. Due to my autoimmune disease, I am in this office... once every three weeks for multiple hours at a time. The office is very clean and the staff very friendly. My only complaint would be there communication via phone. They aren't the best at responding if you leave a voicemail and expect a call back. I understand that this is prob just due to the sheer number of alls they receive daily. What I can say I like the best about the office are the people. Bobby who handles my infusions is great. I never have any issues with her setting up my infusions. She is very quick to reply to messages sent via text and if she were to leave then my whole opinion of the office may change. I also enjoy people like Matt, Lauren, and Jodi. I appreciate all that they do for me and without this team I'm not sure I would be as happy as I am to visit the office as frequently as I have to. Please ensure that these folks are recognized as they are what makes my visit to this office so tolerable :).read more
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