Utility of transbronchial biopsy in the diagnosis of lymphangioleiomyomatosis

Meraj, Riffat; Wikenheiser-Brokamp, Kathryn A.; Young, Lisa R.; Byrnes, S.; McCormack, Francis X.

doi:10.1007/s11684-012-0231-5

Cited by 37 publications

(34 citation statements)

References 37 publications

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“…Small series suggest that LAM can be diagnosed in approximately 60% of cases by transbronchial biopsy (25). In the remaining cases, surgical lung biopsy is required to achieve diagnostic certainty.…”

Section: Original Researchmentioning

confidence: 99%

Chest Computed Tomographic Image Screening for Cystic Lung Diseases in Patients with Spontaneous Pneumothorax Is Cost Effective

et al. 2017

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Rationale: Patients without a known history of lung disease presenting with a spontaneous pneumothorax are generally diagnosed as having primary spontaneous pneumothorax. However, occult diffuse cystic lung diseases such as Birt-Hogg-Dubé syndrome (BHD), lymphangioleiomyomatosis (LAM), and pulmonary Langerhans cell histiocytosis (PLCH) can also first present with a spontaneous pneumothorax, and their early identification by high-resolution computed tomographic (HRCT) chest imaging has implications for subsequent management.Objectives: The objective of our study was to evaluate the costeffectiveness of HRCT chest imaging to facilitate early diagnosis of LAM, BHD, and PLCH.Methods: We constructed a Markov state-transition model to assess the cost-effectiveness of screening HRCT to facilitate early diagnosis of diffuse cystic lung diseases in patients presenting with an apparent primary spontaneous pneumothorax. Baseline data for prevalence of BHD, LAM, and PLCH and rates of recurrent pneumothoraces in each of these diseases were derived from the literature. Costs were extracted from 2014 Medicare data. We compared a strategy of HRCT screening followed by pleurodesis in patients with LAM, BHD, or PLCH versus conventional management with no HRCT screening. Measurements and Main Results:In our base case analysis, screening for the presence of BHD, LAM, or PLCH in patients presenting with a spontaneous pneumothorax was cost effective, with a marginal cost-effectiveness ratio of $1,427 per quality-adjusted lifeyear gained. Sensitivity analysis showed that screening HRCT remained cost effective for diffuse cystic lung diseases prevalence as low as 0.01%. Conclusions:HRCT image screening for BHD, LAM, and PLCH in patients with apparent primary spontaneous pneumothorax is cost effective. Clinicians should consider performing a screening HRCT in patients presenting with apparent primary spontaneous pneumothorax.

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Section: Original Researchmentioning

confidence: 99%

Chest Computed Tomographic Image Screening for Cystic Lung Diseases in Patients with Spontaneous Pneumothorax Is Cost Effective

et al. 2017

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“…The LAM histology score [38] is a validated predictor of the clinical course of LAM and is correlated with the intensity of lung tissue reactivity with VEGF receptor-3, an indicator of lymphatic endothelial cells [39]. In the context of obtaining tissue diagnosis, once prospective studies are performed, fibreoptic bronchoscopy could potentially be a useful, relatively safe tool to histologically diagnose LAM [40,41].…”

Section: Specific Recommendationsmentioning

confidence: 99%

Towards personalised therapy for lymphangioleiomyomatosis: lessons from cancer

El–Chemaly

Henske

2014

Eur Respir Rev

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Lymphangioleiomyomatosis (LAM) is a rare cystic, destructive lung disease occurring almost exclusively in females. Bi-allelic inactivating tuberous sclerosis complex (TSC) gene mutations occur in LAM cells, resulting in activation of the mTORC1 pathway. Pivotal clinical trials have demonstrated that inhibition of mTORC1 with sirolimus can induce a partial response of TSC-associated tumours and decrease the rate of lung function decline in females with LAM. Many parallels have been identified between LAM pathogenesis and neoplasia. Here, we highlight three key nodes through which advances in cancer therapy can streamline future innovation in clinical LAM research with parallels to breast and prostate cancer. These include: 1) hormonally targeted therapies to achieve true disease-free complete remissions; 2) the use of vascular endothelial growth factor-D and other plasma biomarkers to streamline early-phase clinical trials; and 3) the utilisation of histological and molecular features of biopsy material to enable patient stratification and personalised therapies. @ERSpublications This review discusses key lessons from cancer that the LAM community can build on towards personalised therapy in LAM http://ow.ly/slJLR

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“…There is no prospective study to evaluate the yield and safety of TBLB in the diagnosis of LAM. From a recent survey conducted by Meraj et al, it was estimated that diagnostic yield from TBLB was about 60% 10. From this survey, the risk of pneumothorax and bleeding was reported to be 6% and 4% respectively 10.…”

Section: Diagnosis Of Lammentioning

confidence: 89%

“…From a recent survey conducted by Meraj et al, it was estimated that diagnostic yield from TBLB was about 60% 10. From this survey, the risk of pneumothorax and bleeding was reported to be 6% and 4% respectively 10. It would seem that TBLB is a convenient and safe procedure in experienced hands for the purpose of making the pathological diagnosis 10,11.…”

Section: Diagnosis Of Lammentioning

confidence: 90%

Lymphangioleiomyomatosis: differential diagnosis and optimal management

Xu¹,

Lo²

2014

TCRM

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Lymphangioleiomyomatosis (LAM) is an uncommon disease presented as diffuse thin-walled cystic changes in the lung. The main differential diagnoses include pulmonary Langerhans’ histiocytosis (PLCH), Birt-Hogg-Dubé syndrome (BHD), lymphoid interstitial pneumonia (LIP), and amyloidosis. A combination of clinical, radiological, and pathological approaches as well as genetic testing will clarify the diagnosis in most cases. LAM is a disease almost exclusively in women. Dyspnea, pneumothorax, and hemoptysis are common presentations in LAM patients. LAM is also a lymphatic disorder affecting lymphatic vessels and lymph nodes. Chylothorax, chylous ascites, and lymphangiomyomas are frequently seen. LAM can present sporadically as a single entity or as part of tuberous sclerosis complex (TSC). Angiomyolipoma (AML) is a characteristic extra-pulmonary lesion, either found in association with sporadic or TSC-related LAM. High-risk populations should be screened for LAM, including adult women with TSC and female patients with spontaneous pneumothorax, AMLs in the kidney, and diffuse cystic lung diseases. Definitive diagnosis of LAM is based on a high level of clinical suspicion on presentation supported by pathological findings or by a distinct feature, such as a history of TSC, AMLs in the kidney, chylothorax, or chylous ascites. Vascular endothelial growth factor-D (VEGF-D) in serum is a noninvasive and reliable diagnostic biomarker. In experienced centers, trans-bronchial lung biopsy (TBLB) provides a convenient and safe way to obtain lung specimens for diagnostic purposes. An effective treatment for LAM is now available, namely using a mechanistic target of rapamycin (mTOR) inhibitor such as sirolimus. Efficacy of sirolimus has been confirmed in clinical trials. Research in other molecular-targeted therapies is under investigation. A previously little-known rare disease with no cure is now better understood with regards to its pathogenesis, diagnosis, and management. In this review, current knowledge in diagnosis and differential diagnosis of LAM will be discussed, followed by the discussion of therapy with mTOR inhibitors.

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Utility of transbronchial biopsy in the diagnosis of lymphangioleiomyomatosis

Cited by 37 publications

References 37 publications

Chest Computed Tomographic Image Screening for Cystic Lung Diseases in Patients with Spontaneous Pneumothorax Is Cost Effective

Chest Computed Tomographic Image Screening for Cystic Lung Diseases in Patients with Spontaneous Pneumothorax Is Cost Effective

Towards personalised therapy for lymphangioleiomyomatosis: lessons from cancer

Lymphangioleiomyomatosis: differential diagnosis and optimal management

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