Table 6.
Additional services | Role |
---|---|
Dermatology | • All patients with TSC should have an annual review of their skin, carried out in the regional TSC clinic. • Patients should be referred for specialist dermatological advice when required. |
Respiratory | • A high-resolution computed tomography (HRCT) of the chest should be performed at 18–21 years, particularly in post-pubertal females, who are at higher risk of developing pulmonary LAM. • In asymptomatic patients with no sign of LAM on the HRCT chest, scanning should be repeated to screen for new onset disease every 5–10 years. • Patients with pulmonary LAM should undergo regular pulmonary function tests, assuming the patient is able to cooperate. HRCT should be repeated at 2–3-years intervals to monitor for changes in known lesions. Patients with progressive or complex disease, should be referred to, or discussed with, the LAM highly specialized service based in Nottingham (Table 6). |
Cardiology | • Affected infants and children should receive a baseline echocardiogram, and electrocardiogram (ECG) if any new-onset TSC-related symptoms are identified. |
Neuropsychiatry | • Patients with TSC-related psychiatric comorbidities frequently require treatment with psychotropic medications. Regional centers should have input into identifying the most appropriate treatment for these patients, as their care may be complicated by a high rate of comorbid illness, poor response and a high risk of adverse side effects, and potential drug interactions due to polypharmacy. |
Pregnancy | • All women of reproductive age should be offered contraceptive advice. • Women with a pregnancy where the fetus is at risk of/known to have TSC should be referred to specialized fetal medicine services to consider invasive testing. In the absence of an identifiable mutation, monitoring for cardiac rhabdomyomas and/or other genetic testing can occur. • All women should be offered pre-pregnancy counseling, including genetic counseling. • During pregnancy women should be sign-posted to antenatal care in a high-risk combined maternal medicine service. |