BACKGROUND: Lymphangioleiomyomatosis (LAM) is a prominent finding in the setting of tuberous sclerosis complex (TSC). OBJECTIVE: The present study was designed to compare cystic lung changes consistent with LAM in patients with a TSC1 disease-causing mutation, TSC2 disease-causing mutation, or no mutation identified (NMI). METHODS AND RESULTS: We conducted a retrospective review of the chest computed tomography (CT) of 45 female and 20 male patients with TSC and found cysts consistent with LAM in 22 (49%) women and two (10%) men. In the female population, changes consistent with LAM were observed in six of 15 (40%) patients with TSC1, 11 of 23 (48%) with TSC2, and five of seven (71%) with NMI. While the predominant size of cysts did not differ across these three groups, TSC2 women with LAM had a significantly greater number of cysts than did TSC1 patients (p = 0.010). CONCLUSIONS: These findings suggest a higher rate of LAM in TSC1 than previously recognised, as well as a fundamental difference in CT presentation between TSC1 and TSC2.
BACKGROUND:Lymphangioleiomyomatosis (LAM) is a prominent finding in the setting of tuberous sclerosis complex (TSC). OBJECTIVE: The present study was designed to compare cystic lung changes consistent with LAM in patients with a TSC1 disease-causing mutation, TSC2 disease-causing mutation, or no mutation identified (NMI). METHODS AND RESULTS: We conducted a retrospective review of the chest computed tomography (CT) of 45 female and 20 male patients with TSC and found cysts consistent with LAM in 22 (49%) women and two (10%) men. In the female population, changes consistent with LAM were observed in six of 15 (40%) patients with TSC1, 11 of 23 (48%) with TSC2, and five of seven (71%) with NMI. While the predominant size of cysts did not differ across these three groups, TSC2women with LAM had a significantly greater number of cysts than did TSC1patients (p = 0.010). CONCLUSIONS: These findings suggest a higher rate of LAM in TSC1 than previously recognised, as well as a fundamental difference in CT presentation between TSC1 and TSC2.
Authors: Nishant Gupta; Robert Vassallo; Kathryn A Wikenheiser-Brokamp; Francis X McCormack Journal: Am J Respir Crit Care Med Date: 2015-06-15 Impact factor: 21.405
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Authors: Sara Zak; Nadine Mokhallati; Weiji Su; Francis X McCormack; David N Franz; Maxwell Mays; Darcy A Krueger; Rhonda D Szczesniak; Nishant Gupta Journal: Ann Am Thorac Soc Date: 2019-04
Authors: Diane Seibert; Chien-Hui Hong; Fumiko Takeuchi; Cara Olsen; Olonda Hathaway; Joel Moss; Thomas N Darling Journal: Ann Intern Med Date: 2011-06-21 Impact factor: 25.391
Authors: Francis X McCormack; Nishant Gupta; Geraldine R Finlay; Lisa R Young; Angelo M Taveira-DaSilva; Connie G Glasgow; Wendy K Steagall; Simon R Johnson; Steven A Sahn; Jay H Ryu; Charlie Strange; Kuniaki Seyama; Eugene J Sullivan; Robert M Kotloff; Gregory P Downey; Jeffrey T Chapman; MeiLan K Han; Jeanine M D'Armiento; Yoshikazu Inoue; Elizabeth P Henske; John J Bissler; Thomas V Colby; Brent W Kinder; Kathryn A Wikenheiser-Brokamp; Kevin K Brown; Jean F Cordier; Cristopher Meyer; Vincent Cottin; Jan L Brozek; Karen Smith; Kevin C Wilson; Joel Moss Journal: Am J Respir Crit Care Med Date: 2016-09-15 Impact factor: 21.405