Use of variability in national and regional data to estimate the prevalence of lymphangioleiomyomatosis

Harknett, Emma; Chang, William; Byrnes, S.; Johnson, Janice H.; Lazor, Romain; Cohen, Marsha M.; Gray, Benjamin R.; Geiling, S.; Telford, H.; Tattersfield, Anne E.; Hubbard, Richard; Johnson, Simon R.

doi:10.1093/qjmed/hcr116

Cited by 128 publications

(85 citation statements)

References 18 publications

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“…An inherited form of LAM occurs in patients with tuberous sclerosis complex (TSC), an autosomal dominant disorder which occurs in one of 6000 live births and is caused by mutations in the tuberous sclerosis complex 1 (TSC1) or 2 (TSC2) genes [5,6]. A second form, sporadic LAM, is an uncommon disease affecting 3-5 per million women in the general population, and is caused by mutations of the TSC2 gene [5,[7][8][9]. Loss of heterozygosity of TSC2 has been reported in LAM lesions from lung and kidney angiomyolipomas and LAM cells isolated from lung, blood and chyle [5,8,[10][11][12].…”

Section: Introductionmentioning

confidence: 99%

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: Introductionmentioning

confidence: 99%

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

et al. 2014

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“…Диаг-ностика проводится с помощью комбинации клинических признаков и КТ или, в случае сомнений, биопсии легких. E.C.Harknett et al [41] провели многоцентровое ис-следование заболеваемости ЛАМ. Численность жен-щин с ЛАМ была получена из групп пациентов и национальных баз данных из семи стран (n=1001).…”

Section: обзор литературыunclassified

Benign Uterus Cancer With Lung Metastases: Leiomyomatosis, Lymphangioleimyomatosis, Thoracic Endometriosis (Literature Review, Personal Clincial Observations)

Леншин¹,

Леншин

Ильин³

et al. 2017

Bulletin Physiology and Pathology of Respiration

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Own clinical observations of rare pulmonary diseases related to the uterus pathology are presented. These observations reflect clinical-roentgenologic features of benign uterus leiomyoma with lung metastases, lymphangioleiomyomatosis and thoracic endometriosis. The description of three different diseases in one report is conditioned by the fact that they all have one and the same lesion of metastases, i.e. hormonally active uterus in women of reproductive age. Though these diseases are different, but they demand differential diagnostics both between each other and other disseminated pulmonary diseases. This work demonstrates the possibilities of application of multispiral computed tomography with postprocessing imaging. A lot of attention is paid to roentgen semiotics of pulmonary changes typical for each of these diseases.

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“…A role of oestrogens in LAM is suggested by its female predominance, its frequent occurrence during childbearing age, reported worsening of lung disease following the administration of oestrogens [55] or during pregnancy [56], and the presence of oestrogen receptors and progesterone receptors in LAM cells and angiomyolipomas [14,57,58]. Decline in lung function is greater in pre-menopausal women than in post-menopausal women [59].…”

Section: Lam Cells and Pathogenesis Of The Diseasementioning

confidence: 99%

“…LAM was reported to affect about a third of women with TSC [10,11], but recent findings in a large cohort of patients suggest that the prevalence of cystic changes consistent with LAM on computed tomography (CT) scans is higher and increase with age (up to 80% of subjects aged >40 years) [12]. TSC occurs in one in 5800 births, and sporadic LAM has a prevalence estimated to be between 3 and 7.8 per million women [13,14]. Despite the rarity of the disease, in the past decade, remarkable advances have been made regarding clinical presentation, pathogenetic mechanisms and therapeutic possibilities, mostly thanks to data collected worldwide by LAM associations, national registries and referral centres.…”

Section: Introductionmentioning

confidence: 99%

The changing face of a rare disease: lymphangioleiomyomatosis

et al. 2015

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Lymphangioleiomyomatosis is a rare disease characterised by cystic destruction of the lung, lymphatic abnormalities and abdominal tumours. It affects almost exclusively females and can occur sporadically or in patients with tuberous sclerosis complex.In the past decade remarkable progress has been made in understanding of the pathogenesis of this disease leading to a new therapeutic approach. This review summarises recent advances regarding pathogenic mechanisms and clinical manifestations, and highlights the current and the most promising future therapeutic strategies. @ERSpublications Recent advances in pathogenesis, clinical manifestations and therapeutic strategies of lymphangioleiomyomatosis http://ow.ly/Rbmlh

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Use of variability in national and regional data to estimate the prevalence of lymphangioleiomyomatosis

Abstract: Using this method, we have found that the prevalence of LAM is higher than that previously recorded and that many patients with LAM are undiagnosed.

Cited by 128 publications

References 18 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

Benign Uterus Cancer With Lung Metastases: Leiomyomatosis, Lymphangioleimyomatosis, Thoracic Endometriosis (Literature Review, Personal Clincial Observations)

The changing face of a rare disease: lymphangioleiomyomatosis

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