RT Journal Article
SR Electronic
T1 Lymphangioleiomyomatosis in TOSCA - TuberOus SClerosis registry to increAse disease awareness
JF European Respiratory Journal
JO Eur Respir J
FD European Respiratory Society
SP P3499
VO 44
IS Suppl 58
A1 Vincent Cottin
A1 John C. Kingswood
A1 Martha Feucht
A1 Paolo Bruzzi
A1 Tom Carter
A1 Paolo Curatolo
A1 Petrus J. De Vries
A1 Carla Fladrowski
A1 Christoph Hertzberg
A1 Anna Jansen
A1 Sergiusz Jozwiak
A1 Rima Nabbout
A1 Finbar O'Callaghan
A1 Matthias Sauter
A1 Renaud Touraine
A1 Sotirios Youroukos
A1 Bernard Zonnenberg
A1 Guillaume Beaure d'Augère
A1 Elena Belousova
A1 Maria Dahlin
A1 José C. Ferreira
A1 John Lawson
A1 Benedick Perkovic
A1 Alfons Macaya
A1 Valentin Sander
A1 Stefania Crippa
A1 Bulent Ulker
A1 Ramon Castellana
YR 2014
UL http://erj.ersjournals.com/content/44/Suppl_58/P3499.abstract
AB 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.