Beyond the Guidelines: How We Can Improve Healthcare for People With Tuberous Sclerosis Complex Around the World

Abstract

Background: Tuberous Sclerosis Complex International (TSCi) is a consortium of organizations that supports individuals with tuberous sclerosis complex (TSC) around the world. To improve care for TSC on a global level, TSCi identified the need to expand understanding about existing resources available in other countries, what individuals and caregivers value in TSC care, key gaps between needs and reality in each country, and ways these gaps can be addressed by advocacy organizations around the world. Methods: An iterative, mixed methods approach (the Improving Care project) was adopted to incorporate views from diverse members of TSCi. Through idea generation, a collection of qualitative openended responses and concept elicitation, we were able to build consensus where shared experiences and opinions were identified.Results: The research performed as a part of the Improving Care project revealed a significant gap between the guidelines and what is actually available to people with TSC worldwide. Three key priority areas of action to improve this gap were identified: (1) implementation of the guidelines; (2) access to TSC expertise, and (3) coordinated and integrated health care. Conclusions: There are significant opportunities for key stakeholders, including organizations, clinicians, and researchers to improve care for individuals with TSC on both local and global levels. Working across stakeholder groups and utilizing TSC organizations are essential to ensure that the advances in TSC research benefit people living with TSC around the world.

A Multi-Centric Study Assessing Safety and Efficacy of Everolimus in Adult Chinese Patients With Tuberous Sclerosis Complex Associated Renal Angiomyolipomas

“…In acute hemorrhage, embolization followed by corticosteroids is the current recommended therapy ( 10 ). It is important for closer collaboration between different stakeholders such as international and country-level TSC organizations, clinicians and researchers to ensure advances in TSC research to benefit patients with TSC globally ( 11 ).…”

An approach to the tuberous sclerosis complex

“…Cardiac rhabdomyoma are benign tumors dependent of cardiac muscle fibers, being multiple, with a location of 70% in the left ventricle, with a tendency to decrease in size with spontaneous regression in 90% of cases, an association with tuberous sclerosis is described in 61-72%, sometimes causing mechanical obstruction, appearing during fetal age between 20 to 30 weeks of gestation, presenting regression in childhood in some cases, Kotulska et al found expressions of pro-apoptotic proteins in this type of tumors associated with tuberous sclerosis, fibromas were also found in 15.4% and myxomas in 5.8%, associated with tuberous sclerosis complex. [52][53][54][55][56][57] The clinical impact varies depending on the location and number of lesions, however, in most cases they are asymptomatic. On the other hand, when they develop symptoms, they vary from cardiomegaly, murmurs, arrhythmias, hydrops fetalis and depending on the location, they can generate an obstruction gradient that can even result in the death of the patient.…”

“…Al Kindi et al found a high expression of autophagic proteins such as P62 and LC3b an apoptotic protein such as caspase 3 and 7 that are involved in the process of spontaneous regression of the lesion. 53,56,57 On echocardiography lesions are found in the wall of the right or left ventricle, in the left ventricular outflow tract, being mural lesions, pedunculated, multiple, of variables size, and hyperechoic (Figure 3). Other studies can be used, such as cardiac tomography, finding hypodense lesions after contrast and in cardiac magnetic resonance, isointense or hyperintense lesions in the myocardium at T2.…”

“…Other studies can be used, such as cardiac tomography, finding hypodense lesions after contrast and in cardiac magnetic resonance, isointense or hyperintense lesions in the myocardium at T2. [53][54][55][56][57] Based on international guidelines, if this type of injury is detected in the fetal period, it is suggested to intentionally seek data that predict heart failure at birth. Ebrahimi-Fakhari et al studied the maternal administration of sirolimus from 1 to 6 mg per day, observing a gradual decrease in tumor size.…”

“…Follow up is suggested with an echocardiogram annually, and an electrocardiogram every 3 years to look for conduction abdormalities. 57,58…”