Linfangioleiomiomatose pulmonar / Pulmonary Lymphangioleiomyomatosis

Linfangioleiomiomatose pulmonar (LAM) é uma doença rara, de etiologia desconhecida, que basicamente afeta mulheres jovens no período fértil de sua vida. Clinicamente, manifesta-se através de dispnéia progressiva, pneumotórax de repetição, tosse seca e, menos freqüentemente, por quilotórax e escarros hemoptóicos. Essas alterações surgem devido à proliferação anormal de células de músculo liso no parênquima pulmonar, linfonodos e em outros tecidos. Mais recentemente, estudos citogenéticos verificaram a presença de mutações do gene TSC-2 em células de angiomiolipoma renal e linfonodos abdominais de pacientes com LAM, indicando uma possível origem para as lesões hamartomatosas da doença. Radiologicamente, caracteriza-se pela presença de infiltrado intersticial reticulonodular e sinais de hiperinsuflação ao radiografia de tórax. Na tomografia computadorizada de alta resolução, cistos de paredes finas, localizados centralmente, são visibilizados por todo o parênquima do pulmão. O ultrassom e a tomografia de abdome podem revelar angiomiolipomas renais e linfonodomegalias retroperitoneais. Meningeomas também podem estar associados, porém a sua presença deve sempre levar à pesquisa de esclerose tuberosa. Funcionalmente, a doença caracteriza-se por um distúrbio ventilatório obstrutivo, de caráter progressivo, com hiperinsuflação pulmonar e diminuição da difusão de monóxido de carbono. Apesar da ausência de comprovação quanto à eficácia, o principal tratamento utilizado ainda é o anti-estrogênico e constitui-se de oofarectomia, progesterona contínua, tamoxifeno e análogos de GnRH. Além desse, a realização de transplantes pulmonares tem elevado para além de dez anos a sobrevida média das pacientes.

Linfangioleiomiomatosis pulmonar: reporte de un caso

La linfangioleiomiomatosis es una enfermedad rara con menos de 250 casos reportados en la literatura universal, que ocurre únicamente en mujeres, usualmente en edad reproductiva y que se caracteriza por la proliferación de células de musculo liso en tejido pulmonar y en los vasos linfáticos. Presentamos el caso de una mujer de 29 años, con disnea progresiva, tos con escasa espectoración y neumotórax espontáneo bilateral. El diagnóstico se realizó mediante biopsia pulmonar a cielo abierto, donde se encontró proliferación de haces de músculo liso los cuales se disponían preferentemente alrededor de las estructuras vasculares,bronquiales y septo alveolares. Comentamos los principales hallazgos clínicos, radiológicos e histopatológicos.

[CA-125--a tumor marker of lymphangioleiomyomatosis of diagnostic and prognostic importance?]. / CA-125--Ein Tumormarker der Lymphangioleiomyomatose von diagnostischer und prognostischer Bedeutung?

Lymphangioleiomyomatosis is a rare tumour of the lymphatic system, affecting mostly women of childbearing age. Due to its rare occurrence, diagnosis is mostly made after thorough examination therefore time for an early treatment is lost. Diagnostically important are, on the one hand, the histological findings with smooth muscle cells invading the lymphatic system, and on the other hand thin-walled cysts in CT scanning of the lung. CA-125 seems to be a suitable screening parameter for LAM, which may be additionally of prognostic value. Sensitivity and specificity of CA-125 require further observation.

Pulmonary lymphangioleiomyomatosis.

Lymphangioleiomyomatosis (LAM) is an interstitial lung disease seen virtually only in women of childbearing age. The diagnosis, symptoms, paraclinical investigations including the use of CT and spirometry are reviewed. A hormonal dependency of LAM seems obvious, but the exact mechanism has never been understood. Oestrogen and Progesterone receptors may or may not be present in the myoma tissue in LAM. The receptor status seems to have no influence on the results of treatment with medroxyprogesterone or oophorectomy. In spite of the uncertain results of hormonal treatment a therapeutic trial with medroxyprogesterone 200 mg i.m. weekly is warranted. If no improvement is observed bilateral oophorectomy is recommended. Death due to respiratory insufficiency is common, but prognosis seems better than previously though, survivors for more than 20 years after diagnosis being described.

[A 14-year-old with pulmonary hamartomatous lymphangiomyomatosis associated with bilateral pneumothoraces].

A 14-year-old girl was admitted because of cough, chest pain and hemosputum. Chest roentgenogram on admission showed a pneumothorax and a cavitary lesion with niveau formation in the right lung and cystic lesions in the bilateral lung fields. After bed rest and intravenous administration of antibiotics for two weeks, the right lung inflated well and the niveau formation disappeared, and the patient was discharged. One week later, she was readmitted with sudden-onset severe dyspnea, caused by bilateral pneumothoraces. Emergency tube thoracostomy and wedge resection of the bullous lesion was performed. Macroscopically, multiple small cystic changes were seen on the surface of the right lung. Histological examination revealed nodular proliferations of smooth muscle cells in the interstitium and vessel walls in the lung, which contained slit-like lymphatic channels. The diagnosis of pulmonary lymphangiomyomatosis was made. In this case, we could not measure receptors for estrogen and progesterone. Recently, hormonal therapy and oophorectomy have been reported as being useful. Tamoxifen (Norvadex) was therefore initiated, and the patient has remained well with slight dyspnea on exertion. There has been no recurrence of pneumothorax. Lymphangiomyomatosis is a rare disease of unknown etiology which occurs exclusively in women, mostly in those of reproductive age. We report a 14-year-old female patient with lymphangiomyomatosis associated with repeated pneumothorax, who had been under treatment for epilepsy. We believe this case to be of importance because of the long discussed relation between pulmonary lymphangiomyomatosis and tuberous sclerosis.

Treatment of lymphangioleiomyomatosis by ovariectomy, interferon alpha 2b and tamoxifen--a case report.

The gender-specific prevalence of lymphangioleiomyomatosis (LAM) in premenopausal women suggests a hormonal etiology. Despite the antiestrogenic treatment (ovariectomy, tamoxifen) this disease is often refractory to therapy and almost inevitably leads to the patient's death. We describe a case where the antiproliferative effect of systemically applied interferon alpha 2b was successfully employed in addition to ovariectomy and the patient reached complete remission.

[Pulmonary lymphangiomyomatosis]. / Limfangiomiomatoza plucna.

A case of pulmonary lymphangiomyomatosis in a female during menopause is presented. Difficulties in correct histopathological assessment of lung biopsies were met. The diagnosis was made after diagnosis lymph seeping into the pleural cavity. The patient was initially treated with prednisolone, tamoxifen followed by methyl progesterone and after characterizing the patient's hormone profile with danazol. Lymph seeping to the right pleural cavity was treated with pleural drainage and diet limitations. Lymph exudate to the left pleural cavity was controlled with local cytotoxic therapy. After 7 years of therapy and 8 years since the initial symptoms the state of the patient has deteriorated although she can perform every day chores and does not require oxygen therapy. High resolution CT scan disclosed extensive pulmonary changes implying extensive progression of the disease.

Lymphangioleiomyomatosis: the effectiveness of radiotherapy-induced ovarian function annulment. A case report.

Lymphangioleiomyomatosis is an unusual disease characterized by atypical smooth muscle hyperplasia especially of the lymphatic system and affecting females in their child-bearing years. We present a case in which ovarian function was annuled through radiotherapy, instead of resorting to the most commonly used oophorectomy, since the patient's severe respiratory dysfunction made surgery inadvisable. The clinical, radiological and functional characteristics of this entity are discussed, and the therapeutic possibilities are reviewed.

Lymphangiomyomatosis--newer concepts in pathogenesis and management--case reports.

Lymphangiomyomatosis was first reported more than forty years ago. Although its incidence is rare, its occurrence is being increasingly recognized and has been the subject of a growing number of cases reports in recent years. This study adds 2 more cases to the file. Both cases involved young women with the characteristic symptoms of dyspnea, cough, abdominal discomfort and swelling, chest pain, and hemoptysis, with abundant formation of refractory chylous, serous ascites. Although the progression of the disease differed in each case, pulmonary function was affected in a similar way by the presence of obstructive and restrictive defects and a decrease in diffusing capacity. Underlying abnormalities were dilated lymphatics, thickened lymphatic walls, and muscular proliferation of leiomyomatous origin, leading to bronchial restriction. The authors point to the subtlety required in arriving at a differentiated diagnosis of lymphangiomyomatosis lymphangioleiomyomatosis and the difference between the two conditions. They also make particular recommendations in respect to the importance of preliminary hormone receptor tests and to the wisdom to be exercised in ligating a main lymphatic duct in the chest to control the formation of ascites. Pneumothorax, a frequent manifestation of lymphangiomyomatosis, is found to be the result of chronic air trapping due to a combination of narrowing of conducting airways and disruption of normal lung parenchyma.

Successful treatment of pulmonary lymphangioleiomyomatosis with oophorectomy and medroxyprogesterone-acetate: report of a case and brief review of the literature.

This report describes the successful hormonal treatment of a young woman with pulmonary lymphangioleiomyomatosis. In addition a brief review of the literature is presented.

[3 cases of diffuse lymphangioleiomyomatosis of the lung]. / A propósito de tres casos de linfangioleiomiomatosis pulmonar difusa.

Three new cases of diffuse pulmonary lymphangioleiomyomatosis are presented. Case number 1 is a female patient who presented repeated pneumotorax and dyspnea without evidence by CT scan and gynecological ultrasound of extrathoracic lesions. This patient did not respond to medroxiprogesterone and died 5 years after the initial diagnosis having suffered chronic, severe, global respiratory failure for 4 years. Case number 2 is a female patient who presented dyspnea, chyloptysis and chylothorax, with iliac, paraaortic and mediastinic lymphangioleiomyomas. The last time she was seen, she was still alive after 6 years without treatment. Case number 3 presented lymphangioleiomyomatosis associated to undifferentiated breast carcinoma. The evolution was apparently slow probably because it was diagnosed 14 years after menopause, and died due to a relapse of the neoplasia. All three patients had radiographic images and respiratory functional studies characteristic of this disease and diagnosis was confirmed by biopsy. The literature is reviewed.

Treatment of lymphangioleiomyomatosis. A meta-analysis.

Lymphangioleiomyomatosis is a rare disease which afflicts young women of childbearing age. It is sufficiently uncommon that randomization or any other systematic evaluation of regimens of treatment has been difficult. Review of scattered case reports implies that a number of hormonal manipulations may be equally effective. A comprehensive review of the literature revealed 30 cases of LAM treated with eight regimens of treatment. Evaluation with predetermined criteria (meta-analysis) shows that administration of progesterone or oophorectomy or both are the most effective treatments, resulting in improvement or stabilization of the disease in the majority of cases.

[Diffuse retroperitoneal lymphangioleiomatosis]. / Lymphangioléiomyomatose diffuse rétropéritonéale.

A case of diffuse retroperitoneal lymphangiomatosis manifested by oedema of the left lower limb is reported. Non-invasive exploratory methods revealed a retroperitoneal pseudo-tumoral image. At laparotomy, a retro- and subperitoneal infiltration was discovered, and histology showed benign smooth muscle proliferation developed from the muscular layer of lymph vessels. There is no known successful surgical procedure for this type of lesion, and none of the treatments tested (oophorectomy or hormonal therapy) has proved to be effective.