Effect of Angiofibromas on Quality of Life and Access to Care in Tuberous Sclerosis Patients and Their Caregivers.

BACKGROUND/OBJECTIVES: Facial angiofibromas (AF) have the potential to cause disfigurement in children with tuberous sclerosis complex (TSC). Facial disfigurement can impact the quality of life (QoL) of individuals and their families, leading to negative psychosocial outcomes. QoL has not been studied in TSC patients with AF. METHODS: We conducted a cross-sectional survey study to investigate QoL of TSC patients with AF and their caregivers and to explore the current state of access to treatment for AF. TSC patients and caregivers in TSC clinic at Boston Children's Hospital and through the Tuberous Sclerosis Alliance were recruited to complete QoL surveys including the CADIS, CDLQI, and Skindex-teen questionnaires, and a survey on access to treatment of AF. RESULTS: Fifty-eight patients with TSC and 161 caregivers participated in the study. Caregivers of patients with AF had significantly poorer QoL scores compared to caregivers of those without AF, as measured by a modified CADIS questionnaire (mean 31.7 vs. 11.7, p = 0.004). Among patients with AF, those who received treatment had significantly better QoL scores compared with those without treatment, as measured by the CDLQI (mean 3.8 vs. 9.5, p = 0.001). Forty-one and two-tenths percent of subjects reported never receiving treatment for AF. Forty-seven and three-tenths percent of subjects were prescribed topical rapamycin, 47.7% of whom experienced difficulty with insurance coverage. CONCLUSIONS: Presence and lack of treatment of AF significantly impacts QoL in TSC patients and their caregivers. Access to care for AF is limited by multiple factors and should be addressed by clinicians working with this patient population.

Avoiding allogenic blood transfusions in endoscopic angiofibroma surgery.

BACKGROUND: Surgical approaches for many tumours are often limited by blood loss, exposure and risk to vital anatomical structures. Therefore, the standard of care for certain skull base tumours has become endoscopic transnasal resection. Other surgical disciplines often use cell salvage techniques, but review of the otolaryngology literature revealed very few case reports. This study investigated the value and safety of salvage-type autologous blood transfusion during the endoscopic resection of juvenile nasopharyngeal angiofibromas (JNA). METHODS: JNA is a rare vascular nasal tumour and the study extended over a 3-year period to obtain adequate patient numbers. All patients undergoing endoscopic resection during this period were included in the population sample. Ten patients with JNA were identified and underwent embolization prior to the endoscopic resection. In all cases the intraoperative blood salvage apparatus was used. Close post-operative monitoring was performed. RESULTS: Homologous blood transfusion could be avoided in all cases. Postoperative monitoring revealed transient bacteraemia in two cases where the leukocyte filter was not used, but no evidence of septicaemia. CONCLUSIONS: Perioperative cell saver and autologous blood transfusion in endonasal JNA surgery is safe. Homologous blood transfusion can be avoided by using this technique. The use of cell salvage allows for single stage surgery without the need to abandon surgery due to excessive blood loss and its future use is promising.