Search

Background: Lymphangioleiomyomatosis (LAM), a rare disease affecting women, is caused by somatic mutations in the tuberous sclerosis complex genes.Methods: A case-control questionnaire study was carried out examining parental and family history, prenatal events, and early life events to try to shed light on the aetiology of the condition. Forty five patients identified from a national LAM register completed a questionnaire and 31 were compared with 117 age and sex matched control subjects using conditional logistic regression.Results: No differences were found in perinatal events, childhood infections, and parental or family history, except that patients were more likely to be an only child (odds ratio (OR) 4.3 (95% confidence interval (CI), 1.5 to 11.8)) and have a relative with uterine fibroids (OR 4.2 (1.4 to 13)). Patients with LAM had had fewer pregnancies and fewer children but no differences in miscarriage rates. A non-matched analysis using all 45 cases and 117 controls gave similar results.Conclusions: No features in the family history, perinatal events, or early life events were detected that were associated with having LAM. Being more likely to be an only child and having an increased family history of uterine fibroids may, if confirmed, indicate some differences in reproductive function within the families of affected individuals. [ABSTRACT FROM AUTHOR]

Background: Lymphangioleiomyomatosis (LAM) is a rare and progressive disease of young women with no effective treatment. Previous estimates of 10 year survival, based mostly on case series or patients from tertiary centres, have ranged from 40% to 79%; no data are available on the progression of respiratory disability. In order to provide data for patients and for planning intervention studies, we have looked at the time course of LAM using a national cohort. Methods: Time to death, time to MRC dyspnoea grades 2-5, and need for oxygen in patients on the UK LAM database were analysed using Kaplan-Meier analysis and Cox regression. Results: Fifty seven of 72 patients responded with a median duration of follow up of 12.6 years (range 2.3-37) from the onset of symptoms. Ten year survival was 91% from onset of symptoms but varied widely with 11 patients alive after 20 years. Median time to MRC grade 3 dyspnoea (breathless walking on the flat) was 9.3 years (95% CI 5.1 to 13.4) from onset of symptoms. Conclusions: Survival from LAM appears to be better than that reported in early studies. These data should be helpful for patients and for planning clinical trials. [ABSTRACT FROM AUTHOR]