Natural history of incidental sporadic and tuberous sclerosis complex associated lymphangioleiomyomatosis. (July 2020)

• Record Type: Journal Article
• Authors: Di Marco, Fabiano; Terraneo, Silvia; Dias, Olívia Meira; Imeri, Gianluca; Centanni, Stefano; Rinaldo, Rocco Francesco; Giuliani, Lisa; Lesma, Elena; Palumbo, Giuseppina; Wanderley, Mark; Ribeiro Carvalho, Carlos Roberto; Guedes Baldi, Bruno
• Is Part Of: Respiratory medicine. Volume 168(2020)
• Publication Date: 2020-07
• Subjects: Lymphangioleiomyomatosis -- Tuberous sclerosis complex -- Natural history; Chest -- Diseases -- Periodicals; Chest -- Diseases -- Great Britain -- Periodicals; Respiratory organs -- Diseases -- Periodicals; Respiratory Tract Diseases -- Periodicals; Appareil respiratoire -- Maladies -- Périodiques; Thorax -- Maladies -- Périodiques; Appareil respiratoire -- Maladies -- Traitement -- Périodiques; Electronic journals; 616.2
• DOI: 10.1016/j.rmed.2020.105993
• Languages: English
• ISSNs: 0954-6111

Abstract

Abstract: Lymphangioleiomyiomatosis (LAM) is a rare disease affecting women in childbearing age. A sporadic form (S-LAM) affecting previously healthy women, and a form associated with Tuberous Sclerosis Complex (TSC-LAM) are described. Some data suggested that TSC-LAM could be a milder disease compared to S-LAM. To investigate whether the different disease behavior is real or due to overdiagnosis of screened TSC women, we compared the natural history of S-LAM and TSC-LAM in patients with incidental diagnosis. Clinical, and functional data from 52 patients (23 with S-LAM and 29 with TSC-LAM) were analysed. At diagnosis functional impairment was mild without differences between groups [FEV1 % pred was 97% (88-105) and 94% (82-106) in TSC-LAM and S-LAM, respectively, p = 0.125]. Patients with S-LAM had less renal angiomyolipoma, and lower VEGF-D serum levels than TSC-LAM. There was no difference in the baseline extent of pulmonary cysts on CT scan and no difference in yearly rate of functional decline between TSC-LAM, and S-LAM patients [e.g. yearly rate of decline of FEV1 % pred was −0.51 (−1.59−2.24) and −0.90 (−1.92−-0.42) in TSC-LAM and S-LAM, respectively, p = 0.265]. In conclusion, the natural history of TSC-LAM and S-LAM, when a potential selection bias due to screening in the latter group is balanced, is similar. Our study suggests that the prevalence of S-LAM can be significantly underestimated due to a tendency to diagnosis more frequently patients with more severe impairment, without identifying several ones with asymptomatic disease. Highlights: Previous studies suggest that TSC-LAM is milder compared to sporadic LAM (S-LAM). The different disease behaviour may be due to overdiagnosis of screened TSC women. We demonstrate that pulmonary impairment at diagnosis is similar in TSC-LAM and S-LAM. Our findings show that the rate of functional decline of TSC-LAM and S-LAM is similar.