Materiały źródłowe

• #1 Tuberous Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538492/

  Tuberous sclerosis complex affects approximately 1 in 6000 to 1 in 10,000 live births, with an overall prevalence of 1 in 20,000. Clinical presentation is extremely variable, usually affecting multiple organs and involving all racial groups. […] The 2012 TSC consensus recommended that patients undergo lifetime surveillance to monitor for common manifestations. For children with tuberous sclerosis, an every 1- or 3-year lifetime surveillance, including imaging studies, has been suggested.

• #2 Tuberous Sclerosis Complex: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1112322-overview

  Birth incidence of tuberous sclerosis complex (TSC) is 1 case per 6000 population, with a prevalence of 1 case per 10,000 population. […] Factors that hamper accurate assessment of incidence and prevalence include under-recognition of less severe phenotypes, high spontaneous mutation rate (approximately two thirds), marked variability of symptoms (even within specific kindreds of affected individuals), and reluctance of asymptomatic parents and relatives to undergo diagnostic testing related to concerns of uninsurability and social stigma. […] Complications of neurological involvement are the most common causes of mortality and morbidity. These are due chiefly to intractable epilepsy, status epilepticus, and subependymal giant cell astrocytoma (SEGA) with associated hydrocephalus. […] Renal complications are the next most frequent cause of morbidity and death. These usually arise from an enlarging AML, resulting in retroperitoneal hemorrhage. End-stage renal disease can occur, as a result of either destruction of normal renal parenchyma by an enlarging AML or polycystic kidney disease.

• #3 Tuberous sclerosis complex: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/tuberous-sclerosis-complex/

  Tuberous sclerosis complex affects 1 in 6,000 to 10,000 people. […] Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.

• #4 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Tuberous-Sclerosis-Epidemiology.aspx

  Tuberous sclerosis can present in individuals of all ages, ethnicity and gender and is estimated to affect 2,000,000 people worldwide. […] It has traditionally been regarded as a very rare disease with the prevalence in 1956 to be approximately 1 in 150,000. However, this has steadily been rising and a study from 1998 estimated the prevalence of disease for all live births to be between 7 and 12 cases per 100,000 although more than half of these cases do not cause symptoms and are not detected at birth. […] A notable explanation for the recent rise in prevalence may be the use of imaging techniques, such as computed tomography (CT) and ultrasound scans that can diagnose individuals that do not notice characteristic symptoms of the condition. […] Although it continues to be regarded as a rare disease, it is relatively common in comparison to many similar genetic diseases.

• #5 Tuberous sclerosis – Wikipedia

  https://en.wikipedia.org/wiki/Tuberous_sclerosis

  TSC occurs in all races and ethnic groups, and in both sexes. The live-birth prevalence is estimated to be between 10 and 16 cases per 100,000. A 1998 study estimated total population prevalence between about 7 and 12 cases per 100,000, with more than half of these cases undetected. […] While still regarded as a rare disease, TSC is common when compared to many other genetic diseases, with at least 1 million individuals affected worldwide. […] In suspected or newly diagnosed TSC, the following tests and procedures are recommended by 2012 International Tuberous Sclerosis Complex Consensus Conference. […] The various symptoms and complications from TSC may appear throughout life, requiring continued surveillance and adjustment to treatments. The following ongoing tests and procedures are recommended by 2012 International Tuberous Sclerosis Complex Consensus Conference.

• #6 Tuberous sclerosis epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Tuberous_sclerosis_epidemiology_and_demographics

  Tuberous sclerosis complex affects about 16 in 100,000 individuals. […] TSC is considered a rare disease, but it is comparably common in comparison to other genetic diseases, affecting more than 1 million patients worldwide. […] The total population prevalence figures have steadily increased. 1:150,000 in 1956, to 1:100,000 in 1968, to 1:70,000 in 1971, to 1:34,200 in 1984, to 1:12,500 in 1998. […] Tuberous sclerosis occurs in all races and ethnic groups, and in both genders.

• #7 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Tuberous-Sclerosis-Epidemiology.aspx

  Tuberous sclerosis can present in individuals of all ages, ethnicity and gender and is estimated to affect 2,000,000 people worldwide. […] It has traditionally been regarded as a very rare disease with the prevalence in 1956 to be approximately 1 in 150,000. However, this has steadily been rising and a study from 1998 estimated the prevalence of disease for all live births to be between 7 and 12 cases per 100,000 although more than half of these cases do not cause symptoms and are not detected at birth. […] A notable explanation for the recent rise in prevalence may be the use of imaging techniques, such as computed tomography (CT) and ultrasound scans that can diagnose individuals that do not notice characteristic symptoms of the condition. […] Although it continues to be regarded as a rare disease, it is relatively common in comparison to many similar genetic diseases.

• #8 Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0870-y

  Tuberous Sclerosis Complex (TSC) is a rare multisystem disorder. In 2012 diagnostic criteria for TSC were revised. However, data on the incidence of TSC are limited. […] The aims of this study were 1) to generate up-to-date data on the incidence of definite or possible TSC, 2) to assess age at first diagnosis, and 3) to compare these data with previous epidemiologic data. […] In total, 86 patients met inclusion criteria (definite or possible TSC) with a median age at diagnosis of 6 months (range: 5 months before birth 197 months of age). […] The annual incidence rate of TSC is estimated at a minimum of 1:17.785 live births. However correcting for underreporting, the estimated incidence rate of definite or possible TSC is approximately 1:6.7601:13.520 live births in Germany. […] This is the first study that assessed prospectively the incidence rate of TSC in children and adolescents using the updated diagnostic criteria of 2012.

• #9 Tuberous Sclerosis Complex: New Insights into Pathogenesis and Therapeutic Breakthroughs

  https://www.mdpi.com/2075-1729/15/3/368

  Tuberous sclerosis complex (TSC) has an incidence ranging from 1 in 6000 to 1 in 10,000 live births. In Europe, the prevalence is estimated to range between 1 in 11,500 and 1 in 25,000. Current global estimates for TSC typically range from 800,000 to 1.3 million individuals worldwide, which include diagnosed and undiagnosed cases (due to the variability in phenotypic expression, severity, and age of onset). These estimates are continually updated as more data become available through better diagnostic technologies, genetic screenings, and larger epidemiological studies. The condition shows no predilection for sex or gender or ethnicity. […] Living with TSC poses numerous challenges for patients and their families, as the disorder often requires ongoing multidisciplinary care to manage its complex clinical manifestations and the associated psychosocial impacts. Lifelong surveillance is necessary to monitor organ involvement and prevent complications, underscoring the importance of integrated healthcare approaches.

• #10 Tuberous Sclerosis Complex: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1112322-overview

  TSC affects all races without a clear-cut predominance. […] TSC affects both sexes equally. Some studies have suggested that males are more likely to suffer neurological morbidity, but this has not been demonstrated conclusively. […] TSC can present at any age. In infants and children, it usually is identified as a cause of epilepsy, autism, or cardiac failure. […] Older persons may present with renal failure or pulmonary or cutaneous manifestations in the absence of prominent, or any, neurological symptoms. […] Various organ systems are affected maximally at different points in life. […] Cardiac involvement occurs during the intrauterine or neonatal period. […] Rhabdomyomas tend to regress over time. […] Epilepsy, autism, and developmental delays manifest themselves from infancy to adolescence. […] Polycystic kidney disease usually is apparent in infancy or early childhood. […] AMLs may develop at any time from childhood into adult life. […] Lymphangiomyomatosis typically presents in the third or fourth decade of life.

• #11 Tuberous sclerosis epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Tuberous_sclerosis_epidemiology_and_demographics

  Tuberous sclerosis complex affects about 16 in 100,000 individuals. […] TSC is considered a rare disease, but it is comparably common in comparison to other genetic diseases, affecting more than 1 million patients worldwide. […] The total population prevalence figures have steadily increased. 1:150,000 in 1956, to 1:100,000 in 1968, to 1:70,000 in 1971, to 1:34,200 in 1984, to 1:12,500 in 1998. […] Tuberous sclerosis occurs in all races and ethnic groups, and in both genders.

• #12 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Tuberous-Sclerosis-Epidemiology.aspx

  Some population groups and countries, such as Korea and China, have been identified with a prevalence of tuberous sclerosis possibly lower than other areas of the world, such as America and the United Kingdom. However, this has not been confirmed and the complex is currently considered to occur with equal frequency in different races.

• #13 Tuberous Sclerosis Complex: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1112322-overview

  TSC affects all races without a clear-cut predominance. […] TSC affects both sexes equally. Some studies have suggested that males are more likely to suffer neurological morbidity, but this has not been demonstrated conclusively. […] TSC can present at any age. In infants and children, it usually is identified as a cause of epilepsy, autism, or cardiac failure. […] Older persons may present with renal failure or pulmonary or cutaneous manifestations in the absence of prominent, or any, neurological symptoms. […] Various organ systems are affected maximally at different points in life. […] Cardiac involvement occurs during the intrauterine or neonatal period. […] Rhabdomyomas tend to regress over time. […] Epilepsy, autism, and developmental delays manifest themselves from infancy to adolescence. […] Polycystic kidney disease usually is apparent in infancy or early childhood. […] AMLs may develop at any time from childhood into adult life. […] Lymphangiomyomatosis typically presents in the third or fourth decade of life.

• #14 Diagnosis, monitoring and treatment of tuberous sclerosis complex: A South African consensus response to international guidelines

  http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742017000500008

  To reduce the morbidity and mortality in TSC, evidence-based management and co-ordination of care across medical specialties is crucial throughout the lifespan of the patient. […] The diagnostic criteria and management guidelines were adopted internationally by TSC parent/user organisations and clinical groups, but the international consensus panel encouraged regional and national groups to consider the application and implementation of guidelines in local settings. […] Based on birth incidence and prevalence estimates for TSC and a midyear population estimate of 54 million South Africans in 2014, there are likely to be somewhere between 5 000 and 10 000 people with TSC in SA. […] However, very little is known about TSC in SA. There are no epidemiological data on the prevalence or incidence of TSC in this country, and no national registry or national organisation exists.

• #15 Tuberous Sclerosis Complex: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1112322-overview

  TSC affects all races without a clear-cut predominance. […] TSC affects both sexes equally. Some studies have suggested that males are more likely to suffer neurological morbidity, but this has not been demonstrated conclusively. […] TSC can present at any age. In infants and children, it usually is identified as a cause of epilepsy, autism, or cardiac failure. […] Older persons may present with renal failure or pulmonary or cutaneous manifestations in the absence of prominent, or any, neurological symptoms. […] Various organ systems are affected maximally at different points in life. […] Cardiac involvement occurs during the intrauterine or neonatal period. […] Rhabdomyomas tend to regress over time. […] Epilepsy, autism, and developmental delays manifest themselves from infancy to adolescence. […] Polycystic kidney disease usually is apparent in infancy or early childhood. […] AMLs may develop at any time from childhood into adult life. […] Lymphangiomyomatosis typically presents in the third or fourth decade of life.

• #16 Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0870-y

  Tuberous Sclerosis Complex (TSC) is a rare multisystem disorder. In 2012 diagnostic criteria for TSC were revised. However, data on the incidence of TSC are limited. […] The aims of this study were 1) to generate up-to-date data on the incidence of definite or possible TSC, 2) to assess age at first diagnosis, and 3) to compare these data with previous epidemiologic data. […] In total, 86 patients met inclusion criteria (definite or possible TSC) with a median age at diagnosis of 6 months (range: 5 months before birth 197 months of age). […] The annual incidence rate of TSC is estimated at a minimum of 1:17.785 live births. However correcting for underreporting, the estimated incidence rate of definite or possible TSC is approximately 1:6.7601:13.520 live births in Germany. […] This is the first study that assessed prospectively the incidence rate of TSC in children and adolescents using the updated diagnostic criteria of 2012.

• #17 Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0870-y

  Our findings reveal a substantially lower age at first diagnosis of TSC. […] In summary, our study demonstrates the presence of cardiac rhabdomyoma in a significant proportion of newly prenatally diagnosed TSC patients. The presence of cardiac rhabdomyoma was associated with cardiac arrhythmias in a substantial number of children in our cohort. Early age at diagnosis will open new avenues to new therapeutic interventions.

• #18 Tuberous Sclerosis Complex: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1112322-overview

  TSC affects all races without a clear-cut predominance. […] TSC affects both sexes equally. Some studies have suggested that males are more likely to suffer neurological morbidity, but this has not been demonstrated conclusively. […] TSC can present at any age. In infants and children, it usually is identified as a cause of epilepsy, autism, or cardiac failure. […] Older persons may present with renal failure or pulmonary or cutaneous manifestations in the absence of prominent, or any, neurological symptoms. […] Various organ systems are affected maximally at different points in life. […] Cardiac involvement occurs during the intrauterine or neonatal period. […] Rhabdomyomas tend to regress over time. […] Epilepsy, autism, and developmental delays manifest themselves from infancy to adolescence. […] Polycystic kidney disease usually is apparent in infancy or early childhood. […] AMLs may develop at any time from childhood into adult life. […] Lymphangiomyomatosis typically presents in the third or fourth decade of life.

• #19 Tuberous Sclerosis Complex: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1112322-overview

  TSC affects all races without a clear-cut predominance. […] TSC affects both sexes equally. Some studies have suggested that males are more likely to suffer neurological morbidity, but this has not been demonstrated conclusively. […] TSC can present at any age. In infants and children, it usually is identified as a cause of epilepsy, autism, or cardiac failure. […] Older persons may present with renal failure or pulmonary or cutaneous manifestations in the absence of prominent, or any, neurological symptoms. […] Various organ systems are affected maximally at different points in life. […] Cardiac involvement occurs during the intrauterine or neonatal period. […] Rhabdomyomas tend to regress over time. […] Epilepsy, autism, and developmental delays manifest themselves from infancy to adolescence. […] Polycystic kidney disease usually is apparent in infancy or early childhood. […] AMLs may develop at any time from childhood into adult life. […] Lymphangiomyomatosis typically presents in the third or fourth decade of life.

• #20 Tuberous Sclerosis Complex Classified Into 4 Subtypes

  https://consultqd.clevelandclinic.org/subtyping-of-tuberous-sclerosis-complex-promises-more-personalized-treatment-and-surveillance

  For the first time, researchers have classified tuberous sclerosis complex (TSC) into distinct subtypes, each associated with its own specific gene mutations, disease trajectories and overall prognoses. […] The findings, published in Brain by Cleveland Clinic investigators, underscore the heterogeneity of TSC and hold potential to guide future disease surveillance, treatment protocols and clinical trial design. […] Families with TSC gene mutations face a lifetime of uncertainty. Despite advances in genetic testing, clinicians generally cannot tell their patients with TSC which of the diseases many possible symptoms may arise from their mutation. […] The study also assessed associations between these phenotypic clusters and the underlying genotype (TSC1 or TSC2 gene variants). […] The authors conclude that their findings establish the foundation for larger, prospective studies aimed at validating and refining the proposed disease subtype clustering in TSC.

• #21 Tuberous Sclerosis Complex Classified Into 4 Subtypes

  https://consultqd.clevelandclinic.org/subtyping-of-tuberous-sclerosis-complex-promises-more-personalized-treatment-and-surveillance

  Understanding how our patients genetics influence their symptoms will help us ensure that our patients with TSC have everything they need and only what they need when it comes to treatment and surveillance, Dr. Gupta says. […] These new insights into disease trajectories have implications for clinical trial design as well, adds co-investigator Andrew Dhawan, MD, PhD, a Cleveland Clinic neuro-oncologist who monitors adults with TSC for brain tumors (benign and cancerous) and treats them accordingly. […] These findings should help us refine patient selection to improve future trials.

• #22 Tuberous Sclerosis Complex: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1112322-overview

  Birth incidence of tuberous sclerosis complex (TSC) is 1 case per 6000 population, with a prevalence of 1 case per 10,000 population. […] Factors that hamper accurate assessment of incidence and prevalence include under-recognition of less severe phenotypes, high spontaneous mutation rate (approximately two thirds), marked variability of symptoms (even within specific kindreds of affected individuals), and reluctance of asymptomatic parents and relatives to undergo diagnostic testing related to concerns of uninsurability and social stigma. […] Complications of neurological involvement are the most common causes of mortality and morbidity. These are due chiefly to intractable epilepsy, status epilepticus, and subependymal giant cell astrocytoma (SEGA) with associated hydrocephalus. […] Renal complications are the next most frequent cause of morbidity and death. These usually arise from an enlarging AML, resulting in retroperitoneal hemorrhage. End-stage renal disease can occur, as a result of either destruction of normal renal parenchyma by an enlarging AML or polycystic kidney disease.

• #23 Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0870-y

  The major aims of this prospective, national surveillance study were: 1) To generate up-to-date data on the incidence of definite or possible TSC in Germany over a 2-year-period using current revised criteria for TSC, 2) To assess age at first diagnosis, and 3) To compare our results with previous epidemiologic data. […] We here present a prospective epidemiological study that aimed at determining the incidence of TSC, using the current revised diagnostic criteria from 2012 Tuberous Sclerosis Consensus Conference. […] Although our study provides an estimate of the incidence of definite or possible TSC in Germany based on active surveillance data, we assume that the true incidence is probably still under-estimated for the following reasons: […] The true number of TSC patients in our study is unknown.

• #24 Tuberous sclerosis – Wikipedia

  https://en.wikipedia.org/wiki/Tuberous_sclerosis

  In children and adults younger than 25 years, a magnetic resonance imaging (MRI) of the brain is performed every one to three years to monitor for subependymal giant cell astrocytoma (SEGA). […] Repeat MRI of abdomen every one to three years throughout life. Check renal (kidney) function annually. […] The mTOR inhibitor everolimus was approved in the US for treatment of TSC-related tumors in the brain (subependymal giant cell astrocytoma) in 2010 and in the kidneys (renal angiomyolipoma) in 2012. […] Detection of the disease should be followed by genetic counselling. It is also important to realize that though the disease does not have a cure, symptoms can be treated symptomatically. Hence, awareness regarding different organ manifestations of TSC is important.

• #25 Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4058297/

  The 2012 International Tuberous Sclerosis Complex Consensus Recommendations provide an evidence-based, standardized approach for optimal clinical care provided for individuals with tuberous sclerosis complex. […] Appropriate surveillance and management is necessary to limit morbidity and mortality in this disease. […] The extent of medical advances in TSC and the need to standardize and optimize clinical care for individuals with TSC necessitated updating the diagnostic criteria and clinical management guidelines from 1998. […] Continued surveillance is necessary to monitor progression of known problems or lesions and emergence of new ones. […] Ongoing periodic surveillance is needed after initial diagnosis for optimal care and prevention of secondary complications associated with TSC.

• #26 Surveillance and Screening – Tuberous Sclerosis Australia

  https://tsa.org.au/understanding-tsc/surveillance-and-screening/

  Regular surveillance and screening is absolutely critical for anyone living with TSC as symptoms change over time. Regular surveillance and screening offers the best chance of early and successful intervention. […] In 2021, the International Tuberous Sclerosis Complex Consensus Group reviewed and updated the TSC criteria for diagnosis, surveillance and management published in 2013. […] This page provides brief summary of the consensus recommendations for monitoring individuals with TSC. […] Surveillance and management guidelines for TSC. […] The reference papers below are available free of charge with open access to anyone in the world. We encourage you to share these links with your health professionals.

• #27 International TSC Consensus Guidelines

  https://www.tscinternational.org/international-tsc-consensus-guidelines/

  In July 2021, the International TSC Diagnostic Criteria and Surveillance and Management Recommendations were updated to reflect advances in knowledge and approval of new therapies. […] Krueger, D.A., et al., Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference Pediatric Neurology (October 2013) […] Hinton RB et al. Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the international tuberous sclerosis consensus group. J Am Heart Assoc. (Nov 2014).

• #28 Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference – EM consulte

  https://www.em-consulte.com/article/838510/tuberous-sclerosis-complex-surveillance-and-manage

  Tuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals. […] Current surveillance and management practices are highly variable among region and country, reflective of the fact that last consensus recommendations occurred in 1998 and an updated, comprehensive standard is lacking that incorporates the latest scientific evidence and current best clinical practices. […] The updated consensus recommendations for clinical surveillance and management in tuberous sclerosis complex are summarized here. The recommendations are relevant to the entire lifespan of the patient, from infancy to adulthood, including both individuals where the diagnosis is newly made as well as individuals where the diagnosis already is established. […] The 2012 International Tuberous Sclerosis Complex Consensus Recommendations provide an evidence-based, standardized approach for optimal clinical care provided for individuals with tuberous sclerosis complex.

• #29 Surveillance and Screening – Tuberous Sclerosis Australia

  https://tsa.org.au/understanding-tsc/surveillance-and-screening/

  Regular surveillance and screening is absolutely critical for anyone living with TSC as symptoms change over time. Regular surveillance and screening offers the best chance of early and successful intervention. […] In 2021, the International Tuberous Sclerosis Complex Consensus Group reviewed and updated the TSC criteria for diagnosis, surveillance and management published in 2013. […] This page provides brief summary of the consensus recommendations for monitoring individuals with TSC. […] Surveillance and management guidelines for TSC. […] The reference papers below are available free of charge with open access to anyone in the world. We encourage you to share these links with your health professionals.

• #30 Tuberous Sclerosis Complex

  https://practicalneurology.com/diseases-diagnoses/child-neurology/tuberous-sclerosis-complex/31942/

  TSC is an autosomal dominant neurocutaneous epilepsy syndrome that was well defined before a specific causative gene variant was discovered. […] Because of the multisystem nature of TSC and the lifelong course with new symptoms appearing over time, surveillance monitoring is essential. Recommendations for monitoring are provided in Table 3. […] Clinical recognition of TSC is strong enough that genetic testing is often confirmatory only. Typically, diagnosis is made with imaging studies of the brain, heart, and eyes and dermatologic evaluation after a child presents with infantile spasms, although as noted, prenatal detection of cardiac rhabdomyomas may also lead to diagnosis. Family history should be taken and skin examination and neuroimaging done for any child with infantile spasms because these may be key in making a diagnosis of TSC and guiding surveillance of other body systems. Early diagnosis has become more paramount as treatments targeting the mTOR pathway have become available.

• #31 Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4058297/

  Tuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals. […] Current surveillance and management practices are highly variable among region and country, reflective of the fact that last consensus recommendations occurred in 1998 and an updated, comprehensive standard is lacking that incorporates the latest scientific evidence and current best clinical practices. […] The updated consensus recommendations for clinical surveillance and management in tuberous sclerosis complex are summarized here. The recommendations are relevant to the entire lifespan of the patient, from infancy to adulthood, including both individuals where the diagnosis is newly made as well as individuals where the diagnosis already is established.

• #32 Tuberous sclerosis – Wikipedia

  https://en.wikipedia.org/wiki/Tuberous_sclerosis

  In children and adults younger than 25 years, a magnetic resonance imaging (MRI) of the brain is performed every one to three years to monitor for subependymal giant cell astrocytoma (SEGA). […] Repeat MRI of abdomen every one to three years throughout life. Check renal (kidney) function annually. […] The mTOR inhibitor everolimus was approved in the US for treatment of TSC-related tumors in the brain (subependymal giant cell astrocytoma) in 2010 and in the kidneys (renal angiomyolipoma) in 2012. […] Detection of the disease should be followed by genetic counselling. It is also important to realize that though the disease does not have a cure, symptoms can be treated symptomatically. Hence, awareness regarding different organ manifestations of TSC is important.

• #33 Tuberous sclerosis – Wikipedia

  https://en.wikipedia.org/wiki/Tuberous_sclerosis

  In children and adults younger than 25 years, a magnetic resonance imaging (MRI) of the brain is performed every one to three years to monitor for subependymal giant cell astrocytoma (SEGA). […] Repeat MRI of abdomen every one to three years throughout life. Check renal (kidney) function annually. […] The mTOR inhibitor everolimus was approved in the US for treatment of TSC-related tumors in the brain (subependymal giant cell astrocytoma) in 2010 and in the kidneys (renal angiomyolipoma) in 2012. […] Detection of the disease should be followed by genetic counselling. It is also important to realize that though the disease does not have a cure, symptoms can be treated symptomatically. Hence, awareness regarding different organ manifestations of TSC is important.

• #34 SciELO Brazil – Tuberous sclerosis complex Tuberous sclerosis complex

  https://www.scielo.br/j/abd/a/QBWN3yJXCd4YCbzcf6wLjVp/

  Brain MRI or cranial CT scan should be performed every 1 to 3 years in children and less frequently in adults. Early diagnosis of intracranial changes enables complete removal of tumors, when indicated. Chest CT scan and pulmonary function tests should be performed every 6 to 12 months in symptomatic women with pulmonary LAM. Renal ultrasound should be obtained every 1 to 3 years in adolescents and adults for monitoring the emergence of renal angiomyolipomas. […] The active search for cases of TSC in undiagnosed relatives, due to a less prominent clinical manifestation, is important for the establishment of early treatment of possible complications caused by tumors and also for raising awareness of the possible transmissibility of TSC to future generations. It is known that a patient with TSC has a 50% chance of having a child affected by the disease, and the risk of a healthy couple who had a child with TSC to have another child with the disease is 2%. […] false

• #35 SciELO Brazil – Tuberous sclerosis complex Tuberous sclerosis complex

  https://www.scielo.br/j/abd/a/QBWN3yJXCd4YCbzcf6wLjVp/

  Brain MRI or cranial CT scan should be performed every 1 to 3 years in children and less frequently in adults. Early diagnosis of intracranial changes enables complete removal of tumors, when indicated. Chest CT scan and pulmonary function tests should be performed every 6 to 12 months in symptomatic women with pulmonary LAM. Renal ultrasound should be obtained every 1 to 3 years in adolescents and adults for monitoring the emergence of renal angiomyolipomas. […] The active search for cases of TSC in undiagnosed relatives, due to a less prominent clinical manifestation, is important for the establishment of early treatment of possible complications caused by tumors and also for raising awareness of the possible transmissibility of TSC to future generations. It is known that a patient with TSC has a 50% chance of having a child affected by the disease, and the risk of a healthy couple who had a child with TSC to have another child with the disease is 2%. […] false

• #36 Tuberous Sclerosis Complex: New Insights into Pathogenesis and Therapeutic Breakthroughs

  https://www.mdpi.com/2075-1729/15/3/368

  The TSC International Consensus Group, composed of over 80 specialists from 14 countries with diverse medical expertise, has issued updated consensus recommendations. These recommendations are based on extensive practical experience and the best available scientific evidence, providing the most up-to-date standard of care for individuals with TSC throughout their lifetime, regardless of location. However, significant barriers at the individual, regional, or national levels may limit access to certain technologies, treatments, or medical specialists needed for some of these consensus recommendations. Developmental and behavioral screening should be performed every 6–12 months in infancy and early childhood and as needed later; skin and dental surveillance is recommended annually; kidney surveillance every 1–3 years; neurological and neuroimaging monitoring every 1–3 years before the age of 25 and as needed after; cardiac assessment annually before the age of 3 and every 3–5 years after; and high-resolution CT of lungs in adult females every 5–10 years.

• #37 Tuberous Sclerosis Complex: New Insights into Pathogenesis and Therapeutic Breakthroughs

  https://www.mdpi.com/2075-1729/15/3/368

  The TSC International Consensus Group, composed of over 80 specialists from 14 countries with diverse medical expertise, has issued updated consensus recommendations. These recommendations are based on extensive practical experience and the best available scientific evidence, providing the most up-to-date standard of care for individuals with TSC throughout their lifetime, regardless of location. However, significant barriers at the individual, regional, or national levels may limit access to certain technologies, treatments, or medical specialists needed for some of these consensus recommendations. Developmental and behavioral screening should be performed every 6–12 months in infancy and early childhood and as needed later; skin and dental surveillance is recommended annually; kidney surveillance every 1–3 years; neurological and neuroimaging monitoring every 1–3 years before the age of 25 and as needed after; cardiac assessment annually before the age of 3 and every 3–5 years after; and high-resolution CT of lungs in adult females every 5–10 years.

• #38 Tuberous Sclerosis Complex: New Insights into Pathogenesis and Therapeutic Breakthroughs

  https://www.mdpi.com/2075-1729/15/3/368

  The TSC International Consensus Group, composed of over 80 specialists from 14 countries with diverse medical expertise, has issued updated consensus recommendations. These recommendations are based on extensive practical experience and the best available scientific evidence, providing the most up-to-date standard of care for individuals with TSC throughout their lifetime, regardless of location. However, significant barriers at the individual, regional, or national levels may limit access to certain technologies, treatments, or medical specialists needed for some of these consensus recommendations. Developmental and behavioral screening should be performed every 6–12 months in infancy and early childhood and as needed later; skin and dental surveillance is recommended annually; kidney surveillance every 1–3 years; neurological and neuroimaging monitoring every 1–3 years before the age of 25 and as needed after; cardiac assessment annually before the age of 3 and every 3–5 years after; and high-resolution CT of lungs in adult females every 5–10 years.

• #39 Tuberous Sclerosis Complex: New Insights into Pathogenesis and Therapeutic Breakthroughs

  https://www.mdpi.com/2075-1729/15/3/368

  The TSC International Consensus Group, composed of over 80 specialists from 14 countries with diverse medical expertise, has issued updated consensus recommendations. These recommendations are based on extensive practical experience and the best available scientific evidence, providing the most up-to-date standard of care for individuals with TSC throughout their lifetime, regardless of location. However, significant barriers at the individual, regional, or national levels may limit access to certain technologies, treatments, or medical specialists needed for some of these consensus recommendations. Developmental and behavioral screening should be performed every 6–12 months in infancy and early childhood and as needed later; skin and dental surveillance is recommended annually; kidney surveillance every 1–3 years; neurological and neuroimaging monitoring every 1–3 years before the age of 25 and as needed after; cardiac assessment annually before the age of 3 and every 3–5 years after; and high-resolution CT of lungs in adult females every 5–10 years.

• #40

  https://journals.lww.com/jpds/fulltext/2024/33010/tuberous_sclerosis_complex_in_a_20_year_old.7.aspx

  TSC is a genetic multisystem disease with an incidence of 1 in 600010,000 live births. […] It is strongly recommended in TSC individuals with a baseline chest high-resolution CT scan not showing lung cysts to undergo imaging every 510 years; if cysts are present, the interval should be shortened to 23 years. […] Current recommendations for the delivery of services for TSC patients include diagnosis, surveillance, treatment, safe transition from pediatric to adult care, and collaboration with the family. […] Regular surveillance of various body systems is of great significance to avoid further debilitating complications.

• #41 Ophthalmic Manifestations of Tuberous Sclerosis – EyeWiki

  https://eyewiki.org/Ophthalmic_Manifestations_of_Tuberous_Sclerosis

  The clinical diagnosis of TSC involves genetic testing and physical examination findings. Funduscopic examination of the anterior and posterior segments is a critical component of the diagnosis and management of TSC, and may be used in conjunction with other diagnostic measures to follow the progression of ocular hamartomas. […] Patients with TSC should undergo annual evaluation with a dilated fundus examination to ensure that size progression and/or development of fluid associated with the lesions has not occurred.

• #42 Review of the spectrum of tuberous sclerosis complex: The Saudi Arabian Experience | Neurosciences Journal

  https://nsj.org.sa/content/29/2/113

  The term Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders (TAND) is used to refer to the clinical and functional aspects of TSC that are connected. […] The diagnosis of TSC is established with one of the following: 1) genetic diagnosis (a pathogenic variant in TSC1 or TSC2 by molecular genetic testing is diagnostic for TSC) or 2) definite TSC (2 major features or 1 major feature with 2 minor features). […] The majority of the patients (73.8% (n=45)) received ASMs, with levetiracetam (36.1%; n=22) and valproate (31.1%; n=19) being the most commonly used medications. […] The prevalence of AMLs (39.3%) exceeded that of multiple renal cysts (27.9%). This is consistent with the results of other investigations of a similar nature. […] The complexity of TSC necessitates a multidisciplinary team (MDT) approach. This improves the outcome by ensuring that all specialists are efficiently interconnected.

• #43 Tuberous sclerosis complex — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/tuberous-sclerosis-complex/

  TSC is an autosomal dominant condition: […] Management of children with TSC is complex and should be delivered via a multidisciplinary team. Screening for all clinical manifestations of the condition is recommended, together with ongoing surveillance. […] The UK guidelines for management and surveillance of tuberous sclerosis complex.

• #44

  https://link.springer.com/article/10.1007/s44162-024-00049-8

  Tuberous sclerosis complex (TSC) is a rare approximate 1:6000 birth incidence, a genetic disease with a wide variability of physical and neuropsychiatric symptoms. […] There is no such service for the estimated 600 TSC patients in the Republic of Ireland (ROI) and there is a paucity of information regarding the healthcare of this group. […] The number of TSC patients attending epilepsy services is lower than expected (n=135). […] Although UK, TSC consensus baseline recommendations are roughly adhered to, care is fragmented. […] TSC care is fragmented and lacks a formal TSC clinic or network to provide TSC care for this multiorgan complex disease as urged by international and UK TSC clinical recommendations. […] The epidemiological data would suggest that in excess of 600 patients should be attending some type of surveillance services for their disease.

• #45

  https://aesnet.org/abstractslisting/implementation-of-an-electronic-medical-record-(emr)-based-tuberous-sclerosis-complex-(tsc)-patient-registry–improving-patient-compliance–follow-up-and-outcomes

  Tuberous sclerosis complex (TSC) is the leading genetic cause of epilepsy and affects several organ systems. Due to this multisystem involvement, there is a need to efficiently monitor and track patient throughput in the various subspecialty clinics to ensure appropriate surveillance with timely follow up and prompt interventions. […] The TSC Patient Registry is an outcomes-based dashboard in the EMR that focuses on the surveillance and multidisciplinary care associated with TSC. This hospital-based registry helps providers apply diagnostic criteria, track surveillance per guidelines, and manage recommendations. This makes coordination of care and interdisciplinary communication easy and thereby providing the tools to improve the quality of care for our medically and socially complex patients.

• #46

  https://aesnet.org/abstractslisting/implementation-of-an-electronic-medical-record-(emr)-based-tuberous-sclerosis-complex-(tsc)-patient-registry–improving-patient-compliance–follow-up-and-outcomes

  Tuberous sclerosis complex is a multisystem disease needing longitudinal surveillance and follow up with different specialties. Implementing an easy EMR tool to track and monitor our patients surveillance needs and appointments in real time as part of our TSC registry improved care coordination and led to a significant improvement in compliance with subspecialty visits, surveillance imaging and reduced the emergency room visits significantly while improving interdisciplinary communication and quality of care for our complex patients.

• #47 SciELO Brazil – Tuberous sclerosis complex Tuberous sclerosis complex

  https://www.scielo.br/j/abd/a/QBWN3yJXCd4YCbzcf6wLjVp/

  Tuberous sclerosis complex (TSC) is a disease with great phenotypic variability, which sometimes hinders its recognition. It affects 1 in 10,000 newborns, and the majority of patients are diagnosed with the disease in the first 15 months of life. About 25% of the individuals diagnosed after that age had previously showed characteristic clinical signs that were overlooked during a previous medical evaluation. With the advent of new techniques for genetic study and the definition of new clinical manifestations, we have an estimated prevalence of 1:6,000 persons in the general population. Both sexes are affected in a similar frequency, but women may show more prominent signs. There are no reports showing disproportionate involvement in a particular ethnic group. […] The sign that most often leads to diagnosis of the syndrome is the presence of early-onset seizures. Involvement of the skin and mucous membranes also helps with the diagnosis; however, the set of characteristic skin manifestations tends to appear at later stages. The incidence of disorders of certain organ systems is variable, but neurological and renal complications are the leading causes of mortality and morbidity.

• #48 Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group | Nature Reviews Neph

  https://www.nature.com/articles/s41581-024-00818-0

  Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the presence of proliferative lesions throughout the body. […] The incidence of TSC at birth is of ~1 in 5,800, resulting in over one million currently affected patients worldwide. […] A systematic review identified the leading causes of mortality in patients with TSC of all ages to be epilepsy (especially status epilepticus and sudden unexpected death in epilepsy), kidney complications and complications from infections. […] Highlighting the importance of kidney involvement, ~40% of adult patients with TSC have a low glomerular filtration rate (GFR), and TSC-associated kidney disease is the most common cause of death in adults with TSC. […] TSC-associated kidney disease comprises three major phenotypes: angiomyolipomata, cystic disease and renal cell carcinoma (RCC).

• #49 Tuberous Sclerosis Complex: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1112322-overview

  Birth incidence of tuberous sclerosis complex (TSC) is 1 case per 6000 population, with a prevalence of 1 case per 10,000 population. […] Factors that hamper accurate assessment of incidence and prevalence include under-recognition of less severe phenotypes, high spontaneous mutation rate (approximately two thirds), marked variability of symptoms (even within specific kindreds of affected individuals), and reluctance of asymptomatic parents and relatives to undergo diagnostic testing related to concerns of uninsurability and social stigma. […] Complications of neurological involvement are the most common causes of mortality and morbidity. These are due chiefly to intractable epilepsy, status epilepticus, and subependymal giant cell astrocytoma (SEGA) with associated hydrocephalus. […] Renal complications are the next most frequent cause of morbidity and death. These usually arise from an enlarging AML, resulting in retroperitoneal hemorrhage. End-stage renal disease can occur, as a result of either destruction of normal renal parenchyma by an enlarging AML or polycystic kidney disease.

• #50 Tuberous Sclerosis Complex: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1112322-overview

  Birth incidence of tuberous sclerosis complex (TSC) is 1 case per 6000 population, with a prevalence of 1 case per 10,000 population. […] Factors that hamper accurate assessment of incidence and prevalence include under-recognition of less severe phenotypes, high spontaneous mutation rate (approximately two thirds), marked variability of symptoms (even within specific kindreds of affected individuals), and reluctance of asymptomatic parents and relatives to undergo diagnostic testing related to concerns of uninsurability and social stigma. […] Complications of neurological involvement are the most common causes of mortality and morbidity. These are due chiefly to intractable epilepsy, status epilepticus, and subependymal giant cell astrocytoma (SEGA) with associated hydrocephalus. […] Renal complications are the next most frequent cause of morbidity and death. These usually arise from an enlarging AML, resulting in retroperitoneal hemorrhage. End-stage renal disease can occur, as a result of either destruction of normal renal parenchyma by an enlarging AML or polycystic kidney disease.

• #51 Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group | Nature Reviews Neph

  https://www.nature.com/articles/s41581-024-00818-0

  Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the presence of proliferative lesions throughout the body. […] The incidence of TSC at birth is of ~1 in 5,800, resulting in over one million currently affected patients worldwide. […] A systematic review identified the leading causes of mortality in patients with TSC of all ages to be epilepsy (especially status epilepticus and sudden unexpected death in epilepsy), kidney complications and complications from infections. […] Highlighting the importance of kidney involvement, ~40% of adult patients with TSC have a low glomerular filtration rate (GFR), and TSC-associated kidney disease is the most common cause of death in adults with TSC. […] TSC-associated kidney disease comprises three major phenotypes: angiomyolipomata, cystic disease and renal cell carcinoma (RCC).

• #52 Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group | Nature Reviews Neph

  https://www.nature.com/articles/s41581-024-00818-0

  Importantly, normal kidney imaging and GFR in young children do not preclude future development of kidney lesions and all patients with TSC should have regular monitoring of kidney function and imaging. […] Patients with TSC kidney involvement are at considerable risk of receiving delayed or inappropriate health care. […] Although updated general recommendations for the diagnosis and care of TSC have been published, few publications explicitly provide nephrologists and urologists with information on kidney manifestations and management in TSC. […] The success of targeted therapeutic approaches, including mechanistic target of rapamycin complex 1 (mTORC1) inhibitor therapies for both angiomyolipomata and, although not approved, for some forms of TSC cystic kidney disease, raises the expectation that kidney phenotypes in patients with TSC can be addressed to mitigate disease progression. […] We provide a global, systematic overview of the most current and accurate information regarding TSC-associated kidney disease. […] All patients with TSC-associated kidney lesions technically have CKD stage 1 (or more advanced CKD) and should be followed by a nephrologist at least annually.

• #53 SciELO Brazil – Tuberous sclerosis complex Tuberous sclerosis complex

  https://www.scielo.br/j/abd/a/QBWN3yJXCd4YCbzcf6wLjVp/

  Tuberous sclerosis complex (TSC) is a disease with great phenotypic variability, which sometimes hinders its recognition. It affects 1 in 10,000 newborns, and the majority of patients are diagnosed with the disease in the first 15 months of life. About 25% of the individuals diagnosed after that age had previously showed characteristic clinical signs that were overlooked during a previous medical evaluation. With the advent of new techniques for genetic study and the definition of new clinical manifestations, we have an estimated prevalence of 1:6,000 persons in the general population. Both sexes are affected in a similar frequency, but women may show more prominent signs. There are no reports showing disproportionate involvement in a particular ethnic group. […] The sign that most often leads to diagnosis of the syndrome is the presence of early-onset seizures. Involvement of the skin and mucous membranes also helps with the diagnosis; however, the set of characteristic skin manifestations tends to appear at later stages. The incidence of disorders of certain organ systems is variable, but neurological and renal complications are the leading causes of mortality and morbidity.

• #54 Be the lifeline for tuberous sclerosis patients – Medical Republic

  https://www.medicalrepublic.com.au/be-the-lifeline-for-tuberous-sclerosis-patients/18250

  Tuberous sclerosis is a genetic disorder caused by mutations in the tumour-suppressor genes TSC1 and TSC2, located on chromosomes 9 and 16, respectively. The estimated incidence is approximately one in 6000 live births. While tuberous sclerosis can sometimes be inherited, in about two-thirds of cases it occurs spontaneously. It is an autosomal dominant disorder; so there is a 50% chance of an affected person passing the mutation on to their child. […] Tuberous sclerosis complex can be difficult to diagnose due to the variety of symptoms and signs that may not immediately suggest the disorder. Patients may experience delays in receiving a correct diagnosis or may be misdiagnosed with another condition. To ensure early diagnosis, healthcare providers across multiple specialties should be familiar with the many potential symptoms and signs of tuberous sclerosis. Early diagnosis enables prompt evaluation, ongoing symptom management, family planning, genetic counselling and improved outcomes.

• #55 Be the lifeline for tuberous sclerosis patients – Medical Republic

  https://www.medicalrepublic.com.au/be-the-lifeline-for-tuberous-sclerosis-patients/18250

  Tuberous sclerosis is a genetic disorder caused by mutations in the tumour-suppressor genes TSC1 and TSC2, located on chromosomes 9 and 16, respectively. The estimated incidence is approximately one in 6000 live births. While tuberous sclerosis can sometimes be inherited, in about two-thirds of cases it occurs spontaneously. It is an autosomal dominant disorder; so there is a 50% chance of an affected person passing the mutation on to their child. […] Tuberous sclerosis complex can be difficult to diagnose due to the variety of symptoms and signs that may not immediately suggest the disorder. Patients may experience delays in receiving a correct diagnosis or may be misdiagnosed with another condition. To ensure early diagnosis, healthcare providers across multiple specialties should be familiar with the many potential symptoms and signs of tuberous sclerosis. Early diagnosis enables prompt evaluation, ongoing symptom management, family planning, genetic counselling and improved outcomes.

• #56 Tuberous sclerosis | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/tuberous-sclerosis

  Tuberous sclerosis is a genetic condition that can target different parts of the body to varying degrees. […] There is no cure for tuberous sclerosis, but with regular surveillance the impacts of tuberous sclerosis can be minimised. […] While there is no cure for TSC, there are new treatment options and lifelong, regular surveillance can help to protect the health of people with TSC. […] Guidelines for TSC care include regular tests to look for early signs of TSC in different parts of the body. These include regular MRI scans, blood tests and other tests. […] Finding signs of TSC early offers the person with TSC options for early treatment. Appropriate treatment can protect the health of the person with TSC.

• #57 SciELO Brazil – Tuberous sclerosis complex Tuberous sclerosis complex

  https://www.scielo.br/j/abd/a/QBWN3yJXCd4YCbzcf6wLjVp/

  Brain MRI or cranial CT scan should be performed every 1 to 3 years in children and less frequently in adults. Early diagnosis of intracranial changes enables complete removal of tumors, when indicated. Chest CT scan and pulmonary function tests should be performed every 6 to 12 months in symptomatic women with pulmonary LAM. Renal ultrasound should be obtained every 1 to 3 years in adolescents and adults for monitoring the emergence of renal angiomyolipomas. […] The active search for cases of TSC in undiagnosed relatives, due to a less prominent clinical manifestation, is important for the establishment of early treatment of possible complications caused by tumors and also for raising awareness of the possible transmissibility of TSC to future generations. It is known that a patient with TSC has a 50% chance of having a child affected by the disease, and the risk of a healthy couple who had a child with TSC to have another child with the disease is 2%. […] false

• #58 Tuberous Sclerosis Complex: New Insights into Pathogenesis and Therapeutic Breakthroughs

  https://www.mdpi.com/2075-1729/15/3/368

  Tuberous sclerosis complex (TSC) has an incidence ranging from 1 in 6000 to 1 in 10,000 live births. In Europe, the prevalence is estimated to range between 1 in 11,500 and 1 in 25,000. Current global estimates for TSC typically range from 800,000 to 1.3 million individuals worldwide, which include diagnosed and undiagnosed cases (due to the variability in phenotypic expression, severity, and age of onset). These estimates are continually updated as more data become available through better diagnostic technologies, genetic screenings, and larger epidemiological studies. The condition shows no predilection for sex or gender or ethnicity. […] Living with TSC poses numerous challenges for patients and their families, as the disorder often requires ongoing multidisciplinary care to manage its complex clinical manifestations and the associated psychosocial impacts. Lifelong surveillance is necessary to monitor organ involvement and prevent complications, underscoring the importance of integrated healthcare approaches.

• #59 Tuberous sclerosis | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/tuberous-sclerosis

  Tuberous sclerosis is a genetic condition that can target different parts of the body to varying degrees. […] There is no cure for tuberous sclerosis, but with regular surveillance the impacts of tuberous sclerosis can be minimised. […] While there is no cure for TSC, there are new treatment options and lifelong, regular surveillance can help to protect the health of people with TSC. […] Guidelines for TSC care include regular tests to look for early signs of TSC in different parts of the body. These include regular MRI scans, blood tests and other tests. […] Finding signs of TSC early offers the person with TSC options for early treatment. Appropriate treatment can protect the health of the person with TSC.

• #60 Tuberous sclerosis | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/tuberous-sclerosis

  Tuberous sclerosis is a genetic condition that can target different parts of the body to varying degrees. […] There is no cure for tuberous sclerosis, but with regular surveillance the impacts of tuberous sclerosis can be minimised. […] While there is no cure for TSC, there are new treatment options and lifelong, regular surveillance can help to protect the health of people with TSC. […] Guidelines for TSC care include regular tests to look for early signs of TSC in different parts of the body. These include regular MRI scans, blood tests and other tests. […] Finding signs of TSC early offers the person with TSC options for early treatment. Appropriate treatment can protect the health of the person with TSC.

• #61 Tuberous sclerosis – Wikipedia

  https://en.wikipedia.org/wiki/Tuberous_sclerosis

  In children and adults younger than 25 years, a magnetic resonance imaging (MRI) of the brain is performed every one to three years to monitor for subependymal giant cell astrocytoma (SEGA). […] Repeat MRI of abdomen every one to three years throughout life. Check renal (kidney) function annually. […] The mTOR inhibitor everolimus was approved in the US for treatment of TSC-related tumors in the brain (subependymal giant cell astrocytoma) in 2010 and in the kidneys (renal angiomyolipoma) in 2012. […] Detection of the disease should be followed by genetic counselling. It is also important to realize that though the disease does not have a cure, symptoms can be treated symptomatically. Hence, awareness regarding different organ manifestations of TSC is important.

• #62 Tuberous Sclerosis Complex: New Insights into Pathogenesis and Therapeutic Breakthroughs

  https://www.mdpi.com/2075-1729/15/3/368

  In recent years, the establishment of European Reference Networks (ERNs) has significantly improved the management of and research into rare diseases like TSC. ERNs are collaborative networks that connect healthcare providers across Europe, facilitating multidisciplinary approaches to diagnosis and treatment. The ERN for Rare Neurological Disorders (ERN-RND) includes TSC and promotes the sharing of best practices, knowledge, and innovative research initiatives among clinicians and researchers. This collaboration aims to enhance patient outcomes by improving access to specialized care and advancing the understanding of rare conditions.

• #63 Tuberous Sclerosis Complex: New Insights into Pathogenesis and Therapeutic Breakthroughs

  https://www.mdpi.com/2075-1729/15/3/368

  The TSC International Consensus Group, composed of over 80 specialists from 14 countries with diverse medical expertise, has issued updated consensus recommendations. These recommendations are based on extensive practical experience and the best available scientific evidence, providing the most up-to-date standard of care for individuals with TSC throughout their lifetime, regardless of location. However, significant barriers at the individual, regional, or national levels may limit access to certain technologies, treatments, or medical specialists needed for some of these consensus recommendations. Developmental and behavioral screening should be performed every 6–12 months in infancy and early childhood and as needed later; skin and dental surveillance is recommended annually; kidney surveillance every 1–3 years; neurological and neuroimaging monitoring every 1–3 years before the age of 25 and as needed after; cardiac assessment annually before the age of 3 and every 3–5 years after; and high-resolution CT of lungs in adult females every 5–10 years.

• #64 Tuberous Sclerosis Complex (TSC) – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/neurocutaneous-syndromes/tuberous-sclerosis-complex-tsc

  Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that occurs in 1 of 6000 children; 85% of cases involve mutations in the TSC1 gene (9q34), which controls the production of hamartin, or in the TSC2 gene (16p13.3), which controls the production of tuberin. […] Patients must be monitored regularly to check for complications. […] All patients should be screened regularly to detect complications of TSC early. Typically, the following is done: MRI of the head to check for intracranial complications (eg, SEGAs) at least every 3 years; renal ultrasonography or MRI of the abdomen to check for kidney tumors every 3 years in school-aged children and every 1 to 2 years for life in affected adults; in girls 18 years, screening for exertional dyspnea and shortness of breath annually and high-resolution CT every 5 to 10 years to screen for lymphangioleiomyomatosis; neuropsychologic testing periodically and behavioral screening in children to help plan for support at school and behavioral interventions; echocardiography at least every 3 years for asymptomatic children and adolescents with cardiac rhabdomyomas. […] Regular monitoring must be continued until cardiac rhabdomyomas have regressed.

• #65 Tuberous sclerosis – Wikipedia

  https://en.wikipedia.org/wiki/Tuberous_sclerosis

  In children and adults younger than 25 years, a magnetic resonance imaging (MRI) of the brain is performed every one to three years to monitor for subependymal giant cell astrocytoma (SEGA). […] Repeat MRI of abdomen every one to three years throughout life. Check renal (kidney) function annually. […] The mTOR inhibitor everolimus was approved in the US for treatment of TSC-related tumors in the brain (subependymal giant cell astrocytoma) in 2010 and in the kidneys (renal angiomyolipoma) in 2012. […] Detection of the disease should be followed by genetic counselling. It is also important to realize that though the disease does not have a cure, symptoms can be treated symptomatically. Hence, awareness regarding different organ manifestations of TSC is important.

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