The Epidemiology and Clinical Features of Lymphangioleiomyomatosis (LAM): A Descriptive Study of 33 Case Reports

Abstract

Lymphangioleiomyomatosis (LAM) is a rare, slow-growing metastasizing neoplasm in which smooth muscle-like cells infiltrate the lung parenchyma and cause cystic lung damage. The common early symptoms include shortness of breath, pneumothorax, and chest pain. Lymphangioleiomyomatosis mainly involves the lungs, kidneys, and lymph nodes. This study reviews the characteristics of lymphangioleiomyomatosis to identify any possible changes in the prevalence of symptoms of the disease. We conducted a literature review of case reports on lymphangioleiomyomatosis from PubMed and Google Scholar. Variables of interest were age, gender, symptoms, vitals, immunostaining, and radiological findings. Data were transferred to an Excel spreadsheet (Microsoft Corporation, Redmond, WA), and mean, median, standard deviation, frequencies, and proportions were calculated using R version 1.1.456 (RStudio: Integrated Development for R. RStudio, PBC, Boston, MA). Lymphangioleiomyomatosis is a rare case and so not much of the literature could be found online. Thirty-three case reports were included in this study, and females accounted for 78.78% of the presentations. The average age was 38 years, SD 14.41 years. Shortness of breath was the most frequent symptom (60.6%), followed by pneumothorax (57.57%), chest pain (42.42%), cough (24.24%), and pleural effusion (1.25%).

Lymphangioleiomyomatosis with Tuberous Sclerosis Complex—A Case Study

“…LAM may occur as an isolated disease or coexist with tuberous sclerosis (TSC) [1,3]. The incidence of sporadic lymphangioleiomyomatosis (S-LAM) is unknown, but one study found that the sporadic form occurs in 1 in 400,000 adult women [4]. The sporadic form of LAM (S-LAM) is due to an acquired mutation, mainly in the TSC2 gene [5,6].…”

“…These are cases with no other TSC symptoms. Unlike S-LAM, which mainly affects women, tuberous sclerosis complex lymphangioleiomyomatosis (TSC-LAM) affects both men and women with TSC [4]. The hereditary form of LAM (TSC-LAM) affects about 40% of patients with tuberous sclerosis (TSC).…”

“…HRCT is very sensitive and specific in detecting LAM and can reveal characteristic diagnostic findings of numerous thin-walled pulmonary cysts. Other radiographic findings may include reticulonodular opacities, pleural thickening, hyperinflation, and focal ground-glass opacities [4].…”

A case report of lymphangioleiomyomatosis with retroperitoneal masses in pregnancy

“…Microscopically, LAM is distinguished by abnormal hyperplasia of smooth muscle cells in the lungs, lymphatic vessels, and mediastinal, abdominal, and lower cervical lymph nodes (3). The primary site of occurrence is the lungs, most patients experience pulmonary symptoms, including pneumothorax, chest pain, cough, and pleural effusion (4). Despite the rarity of extrapulmonary LAM, instances have been reported in the mediastinum and retroperitoneum, often accompanied by pulmonary invasion.…”