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Pulmonary lymphangioleiomyomatosis

Key sources
The following summarized guidelines for the evaluation and management of pulmonary lymphangioleiomyomatosis are prepared by our editorial team based on guidelines from the Japanese Respiratory Society (JRS/ATS 2017; 2016), the Tuberous Sclerosis Complex International (TSCi 2013), and the European Respiratory Society (ERS 2010).


1.Screening and diagnosis

Indications for screening: as per ITS 2013 guidelines, obtain clinical screening for lymphangioleiomyomatosis symptoms, including exertional dyspnea and shortness of breath, at each clinic visit of patients with tuberous sclerosis. Review counseling regarding smoking risk and estrogen use at each clinic visit of patients at risk of lymphangioleiomyomatosis.
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2.Diagnostic investigations

History and physical examination: elicit a thorough personal and family history concerning the manifestations of tuberous sclerosis complex in patients presenting with lymphangioleiomyomatosis. Perform a physical examination by a physician familiar with the manifestations of tuberous sclerosis complex to assess the skin, retina, and nervous system.

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  • Chest imaging

  • Pulmonary function tests

  • Blood gas analysis

  • Cardiopulmonary exercise testing

  • Serum VEGF-D

  • Genetic testing

  • Abdominal imaging

  • Brain imaging

  • Screening for pulmonary hypertension

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3.Diagnostic procedures

Lung biopsy: consider performing transbronchial lung biopsy before surgical lung biopsy when a definitive diagnosis is required in patients with parenchymal cysts on HRCT characteristic of lymphangioleiomyomatosis but not having additional confirmatory features of lymphangioleiomyomatosis (clinical, radiologic or serologic).

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  • Histopathology

4.Medical management

mTOR inhibitors
As per ATS 2016 guidelines:
Initiate sirolimus rather than offering observation in patients with lymphangioleiomyomatosis with abnormal/declining lung function.
Consider initiating sirolimus before invasive management in patients with lymphangioleiomyomatosis with symptomatic chylous fluid accumulations.

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  • Hormone therapy

  • Inhaled bronchodilators

  • Doxycycline

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5.Nonpharmacologic interventions

Pulmonary rehabilitation: consider offering pulmonary rehabilitation in patients with lymphangioleiomyomatosis limited by dyspnea.

6.Therapeutic procedures

Management of pneumothorax: as per ATS 2017 guidelines, consider offering ipsilateral pleurodesis after the initial pneumothorax episode rather than waiting for a recurrent pneumothorax before intervening with a pleural symphysis procedure in patients with lymphangioleiomyomatosis.

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  • Management of chylothorax

7.Surgical interventions

Lung transplantation: as per ATS 2017 guidelines, avoid viewing previous unilateral or bilateral pleural procedures (pleurodesis or pleurectomy) as a contraindication to lung transplantation in patients with lymphangioleiomyomatosis.

8.Specific circumstances

Pregnant patients: counsel all patients, including patients with few or no symptoms, that there is a greater risk of pneumothorax and chylous effusion during pregnancy.
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9.Patient education

General counseling: as per ITS 2013 guidelines, counsel adolescent and adult female patients on smoking risks and estrogen use.

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  • Counseling on air travel

10.Preventative measures

Routine immunizations: offer influenza and pneumococcal vaccination in patients with lymphangioleiomyomatosis.

11.Follow-up and surveillance

Assessment of disease progression: consider repeating lung function tests at 3-6 monthly intervals during the first year following diagnosis, and at 3-12 monthly intervals thereafter depending on the severity and progression of the disease.
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