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

Shah, Jaini M; Patel, Jaimin T; Shah, Hriday; Dadigiri, Harika; Alla, Arya; Cheriyath, Pramil

doi:10.7759/cureus.43513

Cited by 3 publications

(4 citation statements)

References 37 publications

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“…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].…”

Section: Introductionmentioning

confidence: 99%

“…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).…”

Section: Introductionmentioning

confidence: 99%

“…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].…”

Section: Introductionmentioning

confidence: 99%

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Lymphangioleiomyomatosis with Tuberous Sclerosis Complex—A Case Study

Marciniak,

Nawrocka-Rutkowska,

Brodowska

et al. 2023

JPM

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Lymphangioleiomyomatosis (LAM) is characterized by lung cysts that cause lung deterioration, changes in the lymphatic system, and tumors in the kidneys. It mainly affects women of reproductive age and is a progressive disease. LAM can occur as an isolated disease or coexist with tuberous sclerosis (TSC). The source of LAM cells is unknown. Patients with confirmed LAM should be treated with an mTOR inhibitor, sirolimus, or everolimus. We present a case of LAM with TSC in a patient whose symptoms, including those in the lymph nodes and chyaloperitoneum, mainly concern the abdominal cavity.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Lymphangioleiomyomatosis with Tuberous Sclerosis Complex—A Case Study

Marciniak,

Nawrocka-Rutkowska,

Brodowska

et al. 2023

JPM

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“…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.…”

Section: Introductionmentioning

confidence: 99%

A case report of lymphangioleiomyomatosis with retroperitoneal masses in pregnancy

Zhu,

Wang,

Ding

et al. 2023

Front. Med.

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BackgroundLymphangioleiomyomatosis (LAM) is a rare, gradually advancing tumor of unknown origin. It is distinguished by the anomalous proliferation of pulmonary smooth muscle cells and predominantly manifests in women of childbearing age. In this study, we aim to present a noteworthy case of LAM accompanied by lymphangioleiomyoma in the retroperitoneal space during pregnancy, a scenario susceptible to misdiagnosis.Case presentationA 31-year-old woman, facing an unintended pregnancy, presented during the 13th week with a cystic-solid mass exhibiting abundant blood signals in the pelvic cavity, as revealed by routine obstetrical ultrasound. Concurrently, her chest CT disclosed diffuse thin-walled cavities in both lungs. Despite the absence of clinical symptoms, the patient abandoned pregnancy and underwent a complete curettage. However, 24 days post-operation, she was readmitted for further assessment, revealing an enlargement of the mass encompassing the abdominal aorta and inferior vena cava, along with compression on the middle and lower segments of the ureter. After a multi-disciplinary discussion and patient explanation, an exploratory laparotomy was performed, resulting in the complete removal of the tumor. Intraoperative pathological examination and immunohistochemical staining indicated a retroperitoneal mass devoid of malignant evidence. The comprehensive morphologic and immunophenotypic features substantiated the diagnosis of lymphangioleiomyomatosis. The postoperative course was uneventful, culminating in the patient’s discharge.ConclusionThe consideration of Lymphangioleiomyomatosis (LAM) with a retroperitoneal tumor is crucial in the differential diagnosis of pelvic and abdominal masses. The preoperative diagnosis of this tumor poses a challenge, as ultrasound or CT scans may not yield definitive results. Accurate diagnosis necessitates not only a pathological examination of the retroperitoneal mass but also the correlation with the patient’s chest High-Resolution Computed Tomography (HRCT) findings and corresponding clinical manifestations. Optimal management involves radical surgery, with surgeons comprehensively factoring in both fetal and maternal conditions when formulating a treatment plan.

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Pericardial Effusion as a Presentation of Lymphangioleiomyomatosis

Vale,

Azevedo,

Araújo

et al. 2024

Cureus

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Lymphangioleiomyomatosis (LAM) is a rare, systemic neoplastic disease that primarily affects women of childbearing age. The disease can arise sporadically or in association with tuberous sclerosis. It is characterized by the proliferation of abnormal smooth muscle-like cells, leading to cystic lung destruction, accumulation of chylous fluid, and development of abdominal tumors. The main clinical presentations are pneumothorax and progressive dyspnea on exertion. In some patients, the onset of symptoms occurs while on estrogen replacement therapy or during pregnancy. Since most patients present with common lung symptoms, such as fatigue and dyspnea, LAM is often the last diagnosis to consider. Worsening symptoms with the menstrual cycle can help raise this suspicion. This report describes a case of LAM in which the lack of awareness about this rare disease led to a significant diagnostic delay. A 34-year-old Caucasian woman presented with symptoms of dyspnea and fatigue that began during her second pregnancy, which were initially misinterpreted as obstructive lung disease for three years. As the disease evolved, the development of a pericardial effusion, a rare manifestation of the disease, led to the need to perform computed tomography, revealing multiple thin-walled intrapulmonary cysts with diffuse distribution suggestive of LAM, mediastinal lymphadenopathy, and lymphangioma. Serum vascular endothelial growth factor A levels were normal, and spirometry testing revealed severe airflow obstruction. Based on clinical and imaging findings, a diagnosis of LAM was made. With this article, we intend to raise awareness for the manifestations of this disease and its relation to hormonal changes and review treatment options.

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

Cited by 3 publications

References 37 publications

Lymphangioleiomyomatosis with Tuberous Sclerosis Complex—A Case Study

Lymphangioleiomyomatosis with Tuberous Sclerosis Complex—A Case Study

A case report of lymphangioleiomyomatosis with retroperitoneal masses in pregnancy

Pericardial Effusion as a Presentation of Lymphangioleiomyomatosis

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