Lymphangioleiomyomatosis Screening in Women With Tuberous Sclerosis

Cudzilo, Corey J.; Szczesniak, Rhonda; Brody, Alan S.; Rattan, Mantosh S.; Krueger, Darcy A.; Bissler, John J.; Franz, David Neal; McCormack, Francis X.; Young, Lisa R.

doi:10.1378/chest.12-2813

Cited by 137 publications

(97 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Our data are consistent with the results of a study involving women with TSC, showing that the risk of LAM was age-dependent, increasing from 27% in subjects aged <21 years, to 81% in subjects aged >40 years [25]. A European Respiratory Society consensus statement recommended screening of TSC patients by CT scans at 18 years of age and repeating the study when 30 years old [33].…”

Section: Discussionsupporting

confidence: 90%

See 1 more Smart Citation

Severity and outcome of cystic lung disease in women with tuberous sclerosis complex

et al. 2014

View full text Add to dashboard Cite

What are the clinical features, severity, and rate of progression of lung disease in women with tuberous sclerosis and lymphangioleiomyomatosis (LAM) and how do they differ from patients with sporadic LAM?Data from 94 tuberous sclerosis/LAM and 460 sporadic LAM women were compared. 40 tuberous sclerosis/LAM and 40 sporadic LAM patients were age-and lung function-matched, and changes in volume occupied by cysts (cyst score) and pulmonary function occurring over 6.5 years were evaluated.Tuberous sclerosis/LAM patients had better lung function than sporadic LAM patients, but no difference was observed from sporadic LAM patients in yearly rates of change in forced expiratory volume in 1 s (−1.9±2.7 versus −1.9±1.9% predicted; p=0.302), diffusing capacity of the lung for CO (−2.1±2.8 versus −1.9±2.7% predicted; p=0.282) or cyst scores (+1.0±1.3 versus +1.4±1.7%, p=0.213). However, the proportion of patients with abnormal lung function and higher rates of FEV1 decline was greater in sporadic LAM. Some young tuberous sclerosis/LAM patients (mean age 25.7±3 years) progressed rapidly from minimal to severe lung disease.Tuberous sclerosis/LAM patients may experience abrupt declines in lung function. Consequently, women with tuberous sclerosis found to have lung cysts should undergo periodic functional and radiological testing to follow disease progression and determine need for therapy. @ERSpublicationsWhile the natural history is variable, some women with TSC and LAM may quickly progress to disabling respiratory disease

show abstract

Section: Discussionsupporting

confidence: 90%

“…Subsequent cross-sectional studies however, showed that the prevalence of lung cysts in women with TSC ranged from 26 to 49% and that the extent of cystic disease increases with age [20][21][22][23][24][25]. Clinically significant cystic disease is almost exclusively seen in women.…”

Section: Introductionmentioning

confidence: 99%

Severity and outcome of cystic lung disease in women with tuberous sclerosis complex

et al. 2014

View full text Add to dashboard Cite

show abstract

“…Almost exclusively adolescent girls and women (up to 80 % by the age of 40) are affected [64], presenting with progressive dyspnea on exertion, hemoptysis, and recurrent pneumothoraces in the third to fourth decade of life. Symptomatic LAM is very rare in male patients with TSC.…”

Section: Lung Involvementmentioning

confidence: 99%

Tuberous sclerosis complex: the past and the future

2014

View full text Add to dashboard Cite

Renal lesions represent the second most significant cause of morbidity and mortality in patients with tuberous sclerosis complex (TSC). Recent advances in the understanding of the pathophysiology of TSC have led to the exploration of new potential therapeutic targets. Clinical trials with mammalian target of rapamycin (mTOR) inhibitors have demonstrated promising results for several indications, such as renal angiomyolipoma, subependymal giant cell astrocytoma, lymphangioleiomyomatosis and facial angiofibromas. Currently, there is a scarcity of natural history data and randomized, placebo-controlled clinical trials on TSC. Recently, however, recommendations for the diagnostic criteria, surveillance, and management of TSC patients have been updated. This review focuses on these novel recommendations and highlights the need for multidisciplinary follow-up of this multi-systemic disease.

show abstract

“…Universidad del Rosario. (2) masas quísticas retroperitoneales y pélvicas interpretadas como linfangioleiomiomas (figura 3). Las pruebas de función pulmonar demostraron alteración severa en la DLCO (capacidad de difusión de monóxido de carbono) y un patrón mixto severo con mínima respuesta al broncodilatador.…”

Section: Casounclassified

Linfangioleiomiomatosis esporádica. Presentación de un caso con enfermedad pulmonar y linfangioleiomiomas retroperitoneales

Gómez

Arroyave

et al. 2016

rev. colomb. neumol.

View full text Add to dashboard Cite

La linfangioleiomiomatosis (LAM) es una enfermedad multisistémica asociada a mutaciones del gen TSC 2, que se presenta en forma esporádica (LMA-E) o asociada al complejo de esclerosis tuberosa (LAM-CET). La LAM cursa con enfermedad pulmonar relacionada con quistes en el parénquima. Sin embargo, los pacientes con LAM-E pueden evidenciar alteraciones mediastinales, retroperitoneales y renales, con adenomegalias, linfangioleiomiomas y angiomiolipomas.Presentamos el caso de una paciente con LAM-E y enfermedad pulmonar quística asociada a linfangioleiomiomas retroperitoneales y pélvicos.

show abstract

Lymphangioleiomyomatosis Screening in Women With Tuberous Sclerosis

Cited by 137 publications

References 27 publications

Severity and outcome of cystic lung disease in women with tuberous sclerosis complex

Severity and outcome of cystic lung disease in women with tuberous sclerosis complex

Tuberous sclerosis complex: the past and the future

Linfangioleiomiomatosis esporádica. Presentación de un caso con enfermedad pulmonar y linfangioleiomiomas retroperitoneales

Contact Info

Product

Resources

About