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Sporadic lymphangioleiomyomatosis: Clinical presentation and diagnostic evaluation

Francis X McCormack, MD
Nishant Gupta, MD
Section Editor
Talmadge E King, Jr, MD
Deputy Editors
Geraldine Finlay, MD
Helen Hollingsworth, MD


Lymphangioleiomyomatosis (LAM) is a rare multisystem disease that mostly afflicts young women [1-4]. While in the past surgical biopsy was a commonplace approach for the diagnosis of LAM, there is now a paradigm shift in practice towards less invasive methods that obviate the need for surgery in most patients.

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


The term sporadic LAM is used for patients with LAM not associated with tuberous sclerosis complex (TSC), while TSC-LAM refers to LAM that is associated with TSC.


LAM commonly afflicts young females (see 'General' below). The presenting symptoms and signs of LAM vary depending upon the organs affected by the disease. Most commonly, patients have the signs and symptoms of lung disease (see 'Pulmonary' below) but can also present with symptomatology arising from disease in extrapulmonary sites, especially renal angiomyolipomas and the lymphatic vasculature [5,6] (see 'Non pulmonary' below). Neurocutaneous findings and disease manifestations that are typical of tuberous sclerosis complex (TSC; eg, angiofibromas, Shagreen patches, cortical tubers, seizures, cognitive impairment, etc) are absent in sporadic LAM.

General — Patients with LAM are mostly premenopausal (approximately two-thirds in most trials and registries) women [7]. While the average age at presentation is typically between the mid-thirties and mid-forties, the range extends from preadolescence to elderly (>80 years) [4,7-15]. Prepubertal LAM is rare [16]. It has been postulated that the increase in mean presentation age over the past decade or so may be due to increased awareness, an increased index of suspicion for LAM, and the increasing detection of cysts by computed tomography (CT) in patients under evaluation for chronic obstructive pulmonary disease (COPD), asthma, or other chronic pulmonary disorders [17]. LAM occurs in men, but is rare, thus far exclusively in men with TSC, and almost always asymptomatic. (See "Sporadic lymphangioleiomyomatosis: Epidemiology and pathogenesis", section on 'Epidemiology'.)


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