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Sporadic lymphangioleiomyomatosis: Epidemiology and pathogenesis

Authors
Francis X McCormack, MD
Nishant Gupta, MD
Section Editors
Kevin R Flaherty, MD, MS
Talmadge E King, Jr, MD
Deputy Editors
Helen Hollingsworth, MD
Geraldine Finlay, MD

INTRODUCTION

Lymphangioleiomyomatosis (LAM) is a rare multisystem disorder, belonging to the family of neoplasms with perivascular epithelioid differentiation (PEComa) [1], that mostly afflicts women and primarily affects the lung [2-5]. The term sporadic LAM is used for patients with LAM who do not have tuberous sclerosis complex (TSC), while TSC-LAM refers to LAM that occurs in patients with TSC. Since the 2000s, studies exploring the pathogenesis of LAM have produced ground-breaking insights into the cellular biochemistry of LAM and have led to the development of an effective treatment.  

The epidemiology and pathophysiology of sporadic LAM will be reviewed here. The clinical evaluation and treatment of sporadic LAM and the clinical features and diagnosis of TSC and TSC-associated LAM are discussed separately. (See "Pulmonary involvement in tuberous sclerosis complex" and "Sporadic lymphangioleiomyomatosis: Clinical presentation and diagnostic evaluation" and "Sporadic lymphangioleiomyomatosis: Treatment and prognosis" and "Tuberous sclerosis complex: Genetics, clinical features, and diagnosis".)

EPIDEMIOLOGY

The true incidence and prevalence of sporadic LAM are unknown, as the available epidemiological data are observational and frequently include patients with tuberous sclerosis complex (TSC). Nonetheless, clinical experience and most studies confirm that the sporadic variant of LAM is rare and that it almost exclusively affects women.

Where previous estimates suggested a rate of 1 per million in the general population, regional and national registry data indicate higher rates, possibly reflecting advances in disease recognition and diagnosis [6-13]. As examples:

One study that collected data from seven countries, including the United States, the United Kingdom, and Japan, reported that the prevalence of LAM was between 3 and 8 per million women [8].  

                   

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Literature review current through: Nov 2016. | This topic last updated: Wed Oct 05 00:00:00 GMT+00:00 2016.
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