To improve the recognization of clinical, radiological and pathological characteristics of lymphangioleiomyomatosis(LAM). Plus, it can decrease missed diagnosis and diagnostic errors.

It 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.

All 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).

The 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.