Treatment of lymphangioleiomyomatosis: building evidence in orphan diseases

Cottin, Vincent

doi:10.1183/09031936.00025314

Cited by 7 publications

(3 citation statements)

References 53 publications

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“…It is possible that lymphatic involvement with LAM cell infiltration may obstruct lymphatic flow from the lungs causing impairment of gas exchange, which is reflected by diminished DLCO and hypoxaemia. This hypothesis is consistent with reports that lymphangioleiomyomas and pulmonary infiltrates resolve after treatment with sirolimus, resulting in improvement in lung function [35][36][37]. However, there are no data regarding the potential value of measurement of serum VEGF-D levels in predicting the prognosis of a woman with TSC who has been diagnosed with LAM.…”

Section: Discussionsupporting

confidence: 78%

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

et al. 2014

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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

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Section: Discussionsupporting

confidence: 78%

“…Thus, close medical follow-up of all women with TSC and lung cysts, including pulmonary function tests and computed tomography, is recommended. This approach is justified by evidence that treatment of LAM with sirolimus is effective in slowing progression of lung disease [37,39].…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2014

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“…Similarly, the estimated prevalence of lymphangioleiomyomatosis (LAM) in 2011 was one case per million people, while in 2013 the prevalence was reported to be 5.6 cases per million [6]. In the last 20 years, the knowledge of some rare pulmonary conditions has markedly improved and new therapies are now available that may be effective in changing the clinical course of several illness, such as PAH [7], chronic thromboembolic pulmonary hypertension [8][9][10][11][12], pulmonary vasculitis [13], bronchiolitis [14][15][16], LAM [17][18][19][20], pulmonary alveolar proteinosis [21,22], α 1 -antitrypsin deficiency [23], pulmonary Langerhans cell histiocytosis [24,25] and, more recently (and after several negative trials), idiopathic pulmonary fibrosis (IPF) [26][27][28][29][30]. New horizons of hope are now offered to patients suffering from rare pulmonary diseases.…”

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confidence: 99%