Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit.
Jan JohnsonWendy SomerfieldSimon R JohnsonPublished in: Orphanet journal of rare diseases (2024)
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.
Keyphrases
- lung function
- quality improvement
- cystic fibrosis
- chronic obstructive pulmonary disease
- air pollution
- healthcare
- palliative care
- late onset
- risk factors
- magnetic resonance imaging
- image quality
- magnetic resonance
- depressive symptoms
- pain management
- contrast enhanced
- dual energy
- combination therapy
- affordable care act
- amyotrophic lateral sclerosis