Original Article
Tuberous sclerosis complex associated lymphangioleiomyomatosis and sporadic lymphangioleiomyomatosis: a retrospective study of 30 cases
Jie Liu, Nanshan Zhong, Rongchang Chen, Weili Gu, Jiaying An, Yingying Gu
Published 2017-10-20
Cite as Chin J Lung Dis(Electronic Edition), 2017, 10(5): 514-520. DOI: 10.3877/cma.j.issn.1674-6902.2017.05.002
Abstract
ObjectiveTo improve the recognization of clinical, radiological and pathological characteristics of lymphangioleiomyomatosis(LAM). Plus, it can decrease missed diagnosis and diagnostic errors.
MethodsIt was reviewed that clinical data of 30 patients with tuberous sclerosis complex associated lymphangioleiomyomatosis (TSC-LAM) or sporadic lymphangioleiomyomatosis (S-LAM) in Guangzhou Institute of Respiratory Disease from 2011 to 2016.
ResultsAll of 10 TSC-LAM individuals and 20 S-LAM individuals were enrolled to this research. All participants were female and average age of both groups were 38.1 yrs and 39.2 yrs respectively. Almost 40% TSC-LAM cases had family history and all S-LAM cases were sporadic. Clinical manifestations of both groups included respectively: dyspnea(60%, 70%), spontaneous pneumothorax(50%, 55%), cough(30%, 40%c), hemoptysis(30%, 40%), Chylothorax(20%, 25%), needed supplemental oxygen(20%, 15%). Dermatologic features of TSC-LAM patients included: facial angiofibroma(10 cases), hypomelanotic macules (8 cases), ungual bromas (3 cases)and shagreen patch(3 cases). Thoracic CT scans of all patients indicated diffuse cystic lung and bullae of lung. Enhanced CT scans of the abdomen in both groups identified renal angiomyolipomas. Cerebral CT and MRI scans included 6 cortical dysplasias cases and 9 subependymal nodules cases. Typical characteristics of immunohistochemisty of lung biopsy included SMA(+ )、HMB45(+ )、ER(+ )and PR(+ ). Mean value of serum VEGF-D concentrations of healthy control and TSC-LAM and S-LAM were 268.1 pg/ml [IQR 190.8-364.1; n=20], 2 031.9 pg/ml [IQR 1 441.3-3 124.4; n=10], 1 476.9 pg/ml [IQR 855.3-1 861.1; n=20], respectively. Besides, serum VEGF-D of TSC-LAM and S-LAM were significantly higher than healthy volunteers(P<0.001).
ConclusionsThe main pulmonary involvement of tuberous sclerosis complex is lymphangioleiomyomatosis. Dyspnea and pneumothorax are main clinical features. Thoracic CT and lung biopsy and serum VEGF-D is contribute to diagnosis with lymphangioleiomyomatosis.
Key words:
Tuberous sclerosis; Lymphangioleiomyomatosis; Lung
Contributor Information
Jie Liu
Department of Respiratory Medicine, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou Institute of Respiratory Disease, The State Key Laboratory of Respiratory Disease, The National Clinical Research Center of Respiratory Disease, Guangzhou 510120 , China
Nanshan Zhong
Department of Respiratory Medicine, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou Institute of Respiratory Disease, The State Key Laboratory of Respiratory Disease, The National Clinical Research Center of Respiratory Disease, Guangzhou 510120 , China
Rongchang Chen
Department of Respiratory Medicine, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou Institute of Respiratory Disease, The State Key Laboratory of Respiratory Disease, The National Clinical Research Center of Respiratory Disease, Guangzhou 510120 , China
Weili Gu
Department of Respiratory Medicine, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou Institute of Respiratory Disease, The State Key Laboratory of Respiratory Disease, The National Clinical Research Center of Respiratory Disease, Guangzhou 510120 , China
Jiaying An
Department of Respiratory Medicine, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou Institute of Respiratory Disease, The State Key Laboratory of Respiratory Disease, The National Clinical Research Center of Respiratory Disease, Guangzhou 510120 , China
Yingying Gu
Department of Pathology, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou Institute of Respiratory Disease, The State Key Laboratory of Respiratory Disease, The National Clinical Research Center of Respiratory Disease, Guangzhou 510120 , China
