Natural history of incidental sporadic and tuberous sclerosis complex associated lymphangioleiomyomatosis - 27/05/20
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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.
Le texte complet de cet article est disponible en PDF.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. |
Keywords : Lymphangioleiomyomatosis, Tuberous sclerosis complex, Natural history
Plan
Vol 168
Article 105993- juillet 2020 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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