Abstract
Tuberous sclerosis complex (TSC) is a rare genetic disorder affecting multiple organ systems. TOSCA is a multinational disease registry designed to map the course of TSC manifestations including lymphangioleiomyomatosis (LAM), identify rare symptoms/co-morbidities, record interventions and outcomes, and contribute to creation of an evidence-base for disease assessment and therapy. Patients of any age diagnosed with TSC, with a documented visit in the last 12 months or newly diagnosed are eligible. An enrolment of about 2000 pts in 31 countries and a follow-up to 5 yrs are planned. Collaborative working between clinical experts, patient advocates and a pharmaceutical company is a key element of TOSCA. Data from the first interim analysis about lung involvement are presented. As of 12 July 2013, baseline core data from 508 pts were entered in TOSCA (44.9% male). Patient median age was 16 yrs (range: 0-71 yrs), 235 pts> 18yrs. Median age of TSC diagnosis was 1 yr (range: 0-67 yrs). Thirty-five pts (14.9% of adults) were diagnosed with LAM (94.3% female) and the median age of LAM diagnosis was 32 yrs (range: 17-56 yrs). LAM was symptomatic in 13 female pts, namely shortness of breath (22.9%), pneumothorax (17.1%), lung collapse, chest pain and other (8.6% each). Twenty-eight pts (5.5%) had other pulmonary conditions including multifocal multinodular pneumocyte hyperplasia (46.4%), angiomyolipoma (10.7%), pulmonary hypertension (3.6%), other (39.3%). The first interim analysis of TOSCA suggests that under conditions of standard clinical care, LAM could be underdiagnosed in TSC in comparison to studies with systematic screening for LAM.
- © 2014 ERS
