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Orphanet Journal of Rare Diseases

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Open Access 01-12-2024 | Tuberous Sclerosis | Research

Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit

Authors: Jan Johnson, Wendy Somerfield, Simon R. Johnson

Published in: Orphanet Journal of Rare Diseases | Issue 1/2024

Abstract

Background

Lymphangioleiomyomatosis (LAM) is common in tuberous sclerosis complex (TSC) yet under recognised with management mostly based upon evidence obtained from patients with sporadic LAM. We performed a prospective audit of patients with TSC-LAM attending a national referral centre to inform management guidelines.

Methods

The UK LAM Centre was established in 2011 and conducts a prospective audit of pre-defined quality outcomes for all subjects. Audit data are reported on all patients with TSC-LAM and a comparator population of patients with sporadic LAM.

Results

Between 2011 and 2022, 73 patients were seen with TSC-LAM. All were women with a mean (SD) age of 39 (12) years. Referral rates were similar over the study period including after the introduction of CT screening. Median age of diagnosis with TSC was 11 years (range 0–70) with one third diagnosed with TSC as adults. Compared with all TSC patients in the ‘TOSCA’ registry, TSC-LAM patients tended to have been diagnosed with TSC at an older age, had fewer neuro-cognitive manifestations and were more likely to have angiomyolipoma. The most common presentations of TSC-LAM were following workup for angiomyolipoma, pneumothorax or dyspnoea with only one fifth detected after CT screening. Baseline FEV₁ and DL_CO at first assessment were reduced to 77 and 63% predicted respectively and were similar to patients with sporadic LAM. During follow-up, FEV₁ fell by a mean of 81 ml/year and DL_CO fell by 0.309 mmol/ml/kPa/year in patients not being treated with an mTOR inhibitor. 55% required treatment with either sirolimus or Everolimus for LAM or angiomyolipoma respectively. For those treated with an mTOR inhibitor, mean FEV₁ fell by 3 ml/year and DL_CO increased by 0.032 mmol/ml/kPa/year and was similar to sporadic LAM. Risk of death due to LAM or need for lung transplant in patients with TSC-LAM was 0.67%/year.

Conclusions

Despite screening recommendations, LAM is often diagnosed in TSC after symptoms develop which may delay treatment. Complications including pneumothorax and loss of lung function are significant and similar to sporadic LAM. Work is needed to implement the recommended CT screening for LAM and improve respiratory care for TSC-LAM.

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Title: Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit
Authors: Jan Johnson
Wendy Somerfield
Simon R. Johnson
Publication date: 01-12-2024
Publisher: BioMed Central
Keywords: Tuberous Sclerosis
mTOR-Inhibitors
Pneumothorax
Pneumothorax
Pneumothorax
Epilepsy
Everolimus
Published in: Orphanet Journal of Rare Diseases / Issue 1/2024
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-024-03115-y

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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