Lymphangioleiomyiomatosis (LAM) is a rare disease affecting women in childbearing age. A sporadic form (SLAM) 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 ¼ 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 ¼ 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 di

Natural history of incidental sporadic and tuberous sclerosis complex associated lymphangioleiomyomatosis / F. Di Marco, S. Terraneo, O. Meira Dias, G. Imeri, S. Centanni, R.F. Rinaldo, L. Giuliani, E. Lesma, G. Palumbo, M. Wanderley, C.R. Ribeiro Carvalho, B. Guedes Baldi. - In: RESPIRATORY MEDICINE. - ISSN 0954-6111. - 168(2020 Apr), pp. 105993.1-105993.4. [10.1016/j.rmed.2020.105993]

Natural history of incidental sporadic and tuberous sclerosis complex associated lymphangioleiomyomatosis

F. Di Marco
Primo
;
S. Terraneo
Secondo
;
G. Imeri;S. Centanni;R.F. Rinaldo;L. Giuliani;E. Lesma;G. Palumbo;
2020

Abstract

Lymphangioleiomyiomatosis (LAM) is a rare disease affecting women in childbearing age. A sporadic form (SLAM) 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 ¼ 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 ¼ 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 di
Lymphangioleiomyomatosis; Natural history; Tuberous sclerosis complex
Settore MED/10 - Malattie dell'Apparato Respiratorio
Settore BIO/14 - Farmacologia
apr-2020
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/783804
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