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Rare diseases • 1
Lymphangioleiomyomatosis: clinical features, management and basic mechanisms
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    1. Simon Johnson
    1. Division of Respiratory Medicine, University of Nottingham, City Hospital, Hucknall Road, Nottingham NG5 1PB, UK

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    Lymphangioleiomyomatosis, a rare disease of unknown aetiology, affects women only. It mainly involves the lungs where, as its name suggests, lymphatics (lymph), blood vessels (angio), and airways are surrounded by smooth muscle (leiomyo) proliferation. It is characterised by progressive dyspnoea, haemoptysis, pneumothorax, and chylous pleural effusions and runs a variable course culminating usually in respiratory failure.1 ,2 Lymph nodes in the abdomen and pelvis may be involved and up to half the patients have renal angiomyolipomas. The disease usually arises spontaneously although it also occurs in some patients with tuberous sclerosis.3

    Much of our knowledge of this unusual disorder is anecdotal, coming from case reports and reviews of patients attending tertiary referral centres, which may not represent the full spectrum of the disease. This will change over the next few years as patient registries are being compiled for research purposes in the United Kingdom, United States, and France. This approach, coupled with recent advances in the cell biology of lymphangioleiomyomatosis, will it is hoped improve management and the outcome for patients. This article will cover the clinical features and natural history of isolated lymphangioleiomyomatosis, discuss issues in diagnosis and management, and finally review what is known of the aetiology and cell biology of the disease.

    Clinical features, diagnosis, and management

    INCIDENCE AND DEMOGRAPHIC FEATURES

    The reported prevalence of lymphangioleiomyomatosis is around one per million in the United Kingdom,4 France,5and the United States, although the true prevalence is likely to be greater. The disease is well described in Asia6 although data on prevalence are not available.

    Lymphangioleiomyomatosis is exclusively confined to women, the mean age of onset being 34 years.1 ,2 ,6-8 Presentation after the menopause is very unusual, occurring in only eight of 186 patients in the larger series,1 ,2 ,4 ,6-8 six of whom …

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