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Tuberous sclerosis complex associated lymphangioleiomyomatosis in adults

Talmadge E King, Jr, MD
Elizabeth Henske, MD
Section Editor
Kevin R Flaherty, MD, MS
Deputy Editors
Helen Hollingsworth, MD
Geraldine Finlay, MD


Tuberous sclerosis complex (TSC) is a disorder characterized by multiple benign tumors, and rarely malignant neoplasms of the skin, brain, eyes, heart, lung, liver, and kidney [1,2]. TSC is caused by mutations in the TSC1 or TSC2 gene and is transmitted as an autosomal dominant trait in one-third of cases while nonfamilial cases represent either spontaneous mutations or mosaicism. (See "Tuberous sclerosis complex: Genetics, clinical features, and diagnosis", section on 'Genetics'.)

Lymphangioleiomyomatosis (LAM) is a multisystem disorder that primarily affects the lung. It can occur sporadically (sporadic-LAM) or in association with TSC (TSC-LAM). Many clinical, radiologic, and pathologic features are shared between TSC and sporadic variants. This review will focus on the elements of LAM that are specific to TSC. The epidemiology, diagnosis, and management of sporadic-LAM and TSC are discussed separately. (See "Sporadic lymphangioleiomyomatosis: Epidemiology and pathogenesis" and "Sporadic lymphangioleiomyomatosis: Clinical presentation and diagnostic evaluation" and "Sporadic lymphangioleiomyomatosis: Treatment and prognosis" and "Tuberous sclerosis complex: Genetics, clinical features, and diagnosis".)


Sporadic lymphangioleiomyomatosis (sporadic-LAM) is rare and almost exclusively affects women, with estimates of up to 8 cases per million women (see "Sporadic lymphangioleiomyomatosis: Epidemiology and pathogenesis", section on 'Epidemiology'). In contrast, TSC, an autosomal dominant genetic disorder, has an incidence of approximately 1 in 5000 to 10,000 live births with a high prevalence of LAM among adults. Obtaining exact prevalence rates of TSC-LAM is challenging since data are derived from small retrospective observational studies that mostly utilize computed tomographic (CT) evidence of cystic lung disease for diagnosis:

Several studies report prevalence rates in women with TSC (mostly TSC2 mutations) that range from 26 to 50 percent [3-8]. Rates increase with age after 15 years with the highest rates (up to 80 percent) reported in women over the age of 40 years and lowest rates (27 percent) in those <21 years [7,9]. Estimates based upon the worldwide prevalence of TSC of one million people and the conservative projection that 30 percent of women with TSC develop cystic changes consistent with LAM, the number of women with TSC-LAM on earth is predicted to be approximately 100,000.

Unlike sporadic-LAM, which is extremely rare in men, LAM occurs in males with TSC with rates ranging from 10 to 38 percent [8,10,11].

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Literature review current through: Nov 2017. | This topic last updated: Aug 04, 2017.
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