Recurrence of lymphangioleiomyomatosis: Nine years after a bilateral lung transplantation

Lymphangioleiomyomatosis(LAM) is a rare, slowly progressive lethal lung disease primary afflicting young women. LAM is characterized by proliferation of abnormal smooth muscle cells that target the lungs, causing cystic destruction and eventual respiratory failure leading to death. Recent ten year mortality due to end stage LAM has been reported to be approximately 10%-20%, but may vary. The decline in lung function in LAM is gradual, occurring at a rate of about 3% to 15% per year but can vary from patient to patient. But recently therapy with mammalian target of rapamycin(m TOR) inhibitors such as sirolimus has shown promising results in the stabilization of lung function and reduction of chylous effusions in LAM. Lung transplantation is a viable option for patients who continue to have decline in lung function despite m TOR therapy. Unique issues that may occur post-transplant in a recipient with LAM include development of chylous effusion and a risk of recurrence. We describe a case of LAM recurrence in a bilateral lung transplant recipient who developed histological findings of LAM nine years after transplantation.

The St.George's Respiratory Questionnaire in Lymphangioleiomyomatosis

Objective To examine the correlation between the health-related quality of life measured by the St.George's Respiratory Questionnaire(SGRQ) and the commonly used physiological measures in lymphangioleiomyomatosis(LAM).Methods This study retrospectively analyzed the SGRQ scores and other measures(the Borg scale of breathlessness at rest,6-minute walking distance,blood oxygen levels,and pulmonary function) of patients diagnosed and confirmed with LAM.Altogether 38 patients between June 2007 and November 2009 were included.Results The mean values of the SGRQ three components(symptoms,activity,and impacts) and total scores in the LAM patients were 46.95±28.90,58.47±25.41,47.89±29.66,and 51.11±26.35,respectively.The SGRQ total or component scores were correlated well with the Borg scale of breathlessness,6-minute walking distance,partial pressure of oxygen in arterial blood,spirometry and diffusion capacity of lung.There were poor correlations between SGRQ score and residual volume or total lung capacity.In our preliminary observation,sirolimus improved the SGRQ total and three component scores and the Borg scale of breathlessness significantly after 101-200 days of treatment(n=6).Conclusions The SGRQ score in LAM is correlated well with physiological measures(Borg scale of breathlessness,6-minute walking distance,blood oxygen levels,and pulmonary function tests).The SGRQ could therefore be recommended in baseline and follow-up evaluation of patients with LAM.Treatment with sirolimus,an inhibitor of mammalian target of rapamycin,may improve the quality of life and patient's perception of breathlessness in LAM.

Tuberous sclerosis complex-lymphangioleiomyomatosis involving several visceral organs:A case report

BACKGROUND Lymphangioleiomyomatosis(LAM)is a rare cystic lung disease characterized by the proliferation,metastasis,and infiltration of smooth muscle cells in the lung and other tissues,which can be associated with tuberous sclerosis complex(TSC).The disorder of TSC has a variable expression,and there is great phenotypic variability.CASE SUMMARY A 32-year-old Chinese woman with a history of multiple renal angioleiomyolipoma presented with a productive cough persisting for over 2 wk.Highresolution chest computed tomography revealed interstitial changes,multiple pulmonary bullae,bilateral pulmonary nodules,and multiple fat density areas of the inferior mediastinum.Conventional and contrast ultrasonography revealed multiple high echogenic masses of the liver,kidneys,retroperitoneum,and inferior mediastinum.These masses were diagnosed as angiomyolipomas.Pathology through thoracoscopic lung biopsy confirmed LAM.Furthermore,high-throughput genome sequencing of peripheral blood DNA confirmed the presence of a heterozygous mutation,c.1831C>T(p.Arg611Trp),of the TSC2 gene.The patient was diagnosed with TSC-LAM.CONCLUSION We highlight a rare case of TSC-LAM and the first report of a mediastinum lymphangioleiomyoma associated with TSC-LAM.

Pulmonary Lymphangioleiomyomatosis on a Post-Menopausal Woman with Chronic Lymphocytic Leukaemia

A 62 years old, post-menopausal female was admitted to the Internal Medicine Ward due to dyspnoea, cough and sputum of at least 2 months. Shortness of breath, cough and hypoxaemia persisted and the patient was submitted to a pulmonary angiogram ct which revealed numerous thin-walled air cysts affecting upper and medial zones of both lungs, typical images of pulmonary lymphangioleiomyomatosis. After discharge to Internal Medicine Consultation Service with Metilprednisolone, the patient was no longer hypoxaemic and remained asymptomatic, even after withdrawal of oral corticosteroid to inhalatory formulation. Further surveillance in short time was scheduled in order to implement rapid imunossupressive treatment when necessary.

Clinical characteristics in lymphangioleiomyomatosis-related pulmonary hypertension: an observation on 50 patients

Lymphangioleiomyomatosis (LAM) is a rare diffuse cystic lung disease. Knowledge on LAM-related pulmonary hypertension (PH) is limited. This study aimed to analyze the clinical characteristics of LAM with elevated pulmonary artery pressure (PAP) and evaluate the potential efficacy of sirolimus. The study involved 50 LAM patients who underwent echocardiography. According to the tricuspid regurgitation velocity (TRV), these patients were divided into the TRV≤2.8 m/s group and TRV>2.8 m/s group. Both groups comprised 25 females with an average age of 38.6±8.1 and 41.5±8.9 years. In the TRV>2.8 m/s group, the estimated systolic PAP (SPAP) was significantly elevated (52.08±12.45 mmHg vs. 30.24±5.25 mmHg, P<0.01). Linear analysis showed that SPAP was correlated with forced expiratory volume in 1 s (FEV1), diffusing capacity of the lungs for carbon monoxide, alveolar arterial oxygen gradient (PA-aO2), and 6 min walking distance (r =-0.392,-0.351, 0.450, and -0.591, respectively;P<0.05), in which PA-aO2 was a risk factor for SPAP elevation (β= 0.064, OR= 1.066, P<0.05). Moreover, in 10 patients who received sirolimus therapy, SPAP decreased from 57.0±12.6 mmHg to 35.2±11.1 mmHg. The study showed that LAM patients with PH exhibit poor pulmonary function and hypoxemia and may benefit from sirolimus treatment.

Clinical profiles of pulmonary lymphangioleiomyomatosis in the mainland of China

Pulmonary lymphangioleiomyomatosis （PLAM） is a rare disease primarily occurring in women at reproductive age, and characterized by abnormal proliferation of immature smooth muscle cells named lymphangioleiomyomatosis （LAM） cells in the pulmonary lymphatics, blood vessels and airways, resulting in respiratory failure and death.

Clinical and histopathological alterations of lymphangioleiomyomatosis in 14 Chinese patients

Background Lymphangioleiomyomatosis （LAM） is a rare disease that predominantly affects young females. It is considered as an ＂orphan＂ life-threatening disease of unknown etiology, with uncertain clinical prognosis, and no effective treatment. LAM can arise sporadically or in association with tuberous sclerosis complex （TSC）, an autosomal inherited syndrome characterized by hamartoma-like tumor growth and pathologic features that are distinct from manifestations of pulmonary LAM. The clinical course of LAM is characterized by progressive dyspnea on exertion, recurrent pneumothorax, and chylous fluid collections. Methods Fourteen cases of LAM from Zhongshan Hospital, Fudan University are reviewed, twelve were confirmed by lung biopsy, one by retroperitoneal lymphangioleiomyoma resection, and one by autopsy. Results All 14 patients were women, aged 18 to 69 years （mean 43.3 years, median 46.5 years）. Haemoptysis （57.1%） and chylothorax （35.7%） were more frequent than those described in previous case series. Extrapulmonary findings such as renal angiomyolipoma （AML）, enlarged abdominal lymph nodes, liver AML and retroperitoneal lymphangioleiomyoma were seen in 21.4%, 14.3%, 7.14% and 7.14% in 14 cases respectively, which is remarkably lower than in the previously reported. Abnormal smooth muscle cells （LAM cells） were found to line the airways, bronchioles, lymphatics and blood vessels leading to airflow obstruction and replacement of the lung parenchyma by cysts. There were some surprises in the autopsy case as several LAM cell emboli were found in the veins of mediastinum lymph nodes; LAM cells were found to be disseminated in soft tissues adjacent to the ilium. Conclusions Women with unexplained recurrent pneumothorax, tuberous sclerosis, or a diagnosis of primary spontaneous pneumothorax or emphysema in the setting of limited or absent tobacco use should undergo high-resolution computed tomography （HRCT） scan screening for LAM. Routine abdominal and pelvic imaging examinations should be performed to detect extrapulmonary involvement. The autopsy studies histologically suggested that LAM could be a multisystemic disease and LAM cells might possess metastatic potential.

High dose progesterone therapy in lymphangioleiomyomatosis:a case report and review of literature

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Utility of transbronchial biopsy in the diagnosis of lymphangioleiomyomatosis

Pulmonary lymphangioleiomyomatosis(LAM)is a rare cystic lung disease that targets women during their reproductive years.A confident diagnosis can often be based on clinical grounds,but diagnostic certainty requires pathological analysis.Although surgical lung biopsy is considered the gold standard for obtaining tissue in patients with diffuse lung disease,it is also associated with higher morbidity and mortality than alternative,less invasive techniques.The objective of our study was to examine the utility of transbronchial biopsy in the diagnosis of LAM.We conducted two online surveys of over 1000 LAM patients registered with the LAM Foundation who were accessible by email.Transbronchial biopsy specimens were subsequently collected and reviewed by an expert pathologist to validate the diagnosis.We found that transbronchial biopsy has a yield of approximately 60% in patients with LAM.We conclude that transbronchial biopsy may be a safe and effective method for establishing the diagnosis of LAM,obviating the need for surgical lung biopsy in more than half of LAM patients.

A Validated Model for the Imaging Diagnosis of Cystic Lung Disease

Rationale and Objectives: Cystic lung disease may be accurately diagnosed by imaging interpretation of specialist radiologists, without other information. We hypothesized that with minimal training non-specialists could perform similarly to specialist physicians in the diagnosis of cystic lung disease. Methods: 72 cystic lung disease cases and 25 cystic lung disease mimics were obtained from three sources: 1) a prospective acquired diffuse lung disease registry, 2) a retrospective search of medical records and 3) teaching files. Cases were anonymized, randomized and interpreted by 7 diffuse lung disease specialists and 15 non-specialist radiologists and pulmonologists. Clinical information other than age and sex was not provided. Prior to interpretation, non-specialists viewed a short PDF training document explaining cystic lung disease interpretation. Results: Correct first choice diagnosis of 85%-88% may be achieved by high-performing specialist readers and 71%-80% by non-specialists and lower-performing specialists, with mean accuracies in the diagnosis of LAM (91%, p Conclusion: With specific but limited training, non-specialist physicians can diagnose cystic lung diseases from CT appearance alone with similar accuracy to specialists, correctly identifying approximately 75% of cases.

Hepatic angiomyolipoma: Dynamic computed tomography features and clinical correlation

AIM: To study the dynamic computed tomography (CT) features of hepatic angiomyolipoma (AML) in patients with or without tuberous sclerosis complex (TSC).METHODS: The clinical information, CT fi ndings and histopathological results of hepatic AML were analyzed retrospectively in 10 patients.RESULTS: Hepatic AML was prone to occur in female patients (7/10), and most of the patients (8/10) had no specific symptoms. All tumors presented as well-def ined, unenveloped nodules in the liver. Six patients with sporadic hepatic AML had a solitary hepatic nodule with a definite fat component. Non-fat components of the hepatic lesions were enhanced earlier and persistently. Prominent central vessels were noted in the portal venous phase in three patients. In four patients with hepatic AML and TSC, most of the nodules were within the peripheral liver. Seven fat-deficient nodules were found with earlier contrast enhancement and rapid contrast material washout in two patients. Lymphangioleiomyomatosis was found in one patient.CONCLUSION: Imaging features of hepatic AML are characteristic. Correct diagnosis preoperatively can be made in combination with clinical features.

Axillary Lymph Node Metastasis of Colon Cancer—Case Report and Literature Review

The most common metastatic sites of colon cancer are local lymph nodes, liver and lungs. Lymph node metastasis at distant sites is rare. In this article, we describe the case of a patient with ascending colon cancer with a metastasis in an axillary lymph node. The clinical presentation of this tumor was with an intestinal obstruction, and an emergency resection surgery was undertaken. The patient died at the third post-operative month, with lymph node and hepatic metastasis, and implants in the abdominal fat and in the mesentery, near the ileocolic anastomosis.

Successful Tacrolimus Therapy Extended by Everolimus in Retroperitoneal Angiomyolipoma after Lung Transplantation:A Case Report

Lymphangioleiomyomatosis (LAM) is a rare disease that affects women, especially in child-bearing age. Clinical manifestations include angiomyolipoma, pneumothorax, chylothorax, cystic changes of lungs and progressive pulmonary failure. In this article, we report a case of lung transplantation (LuTX) for end stage pulmonary LAM and the treatment of angiomyolipoma showing growth after LuTX resulting in complete remission with combination therapy of everolimus and tacrolimus.

Diffuse cystic lung diseases

Diffuse cystic lung diseases are uncommon but can present a diagnostic challenge because increasing number of diseases have been associated with this presentation.Cyst in the lung is defined as a round parenchymal lucency with a well-defined thin wall(<2 mm thickness).Focal or multifocal cystic lesions include blebs,bullae,pneumatoceles,congenital cystic lesions,traumatic lesions,and several infectious processes such as coccidioidomycosis,Pneumocystis jiroveci pneumonia,and hydatid disease.“Diffuse”distribution in the lung implies involvement of all lobes.Diffuse lung involvement with cystic lesions can be seen in pulmonary lymphangioleiomyomatosis,pulmonary Langerhans’cell histiocytosis,lymphoid interstitial pneumonia,Birt-Hogg-Dubésyndrome,amyloidosis,light chain deposition disease,honeycomb lung associated with advanced fibrosis,and several other rare causes including metastatic disease.High-resolution computed tomography of the chest helps define morphologic features of the lung lesions as well as their distribution and associated features such as intrathoracic lymphadenopathy.Correlating the tempo of the disease process and clinical context with chest imaging findings serve as important clues to defining the underlying nature of the cystic lung disease and guide diagnostic evaluation as well as management.