胸腔病例（三五八）淋巴血管平滑肌肉增生症

10.6666/ClinMed.201909_84(3).0105

李昶慶；邱華彥；蕭逸函

淋巴血管平滑肌肉增生症（lymphangioleiomyomatosis, LAM） ； 女性（woman） ； 氣胸（pneumothorax）

臨床醫學月刊

84卷3期（2019 / 09 / 27）

643 - 647

繁體中文

淋巴血管平滑肌肉增生症（lymphagioleiomyomatosis, LAM）是一個影響到多個身體系統的疾病，此疾病在臺灣非常罕見，35歲到45歲的停經前女性為好發族群，屬於血管旁類上皮細胞瘤的其中一員（neoplasms with perivascular epithelioid differentiation, PEcoma），大約10到15%跟結節性硬化症（tuberous sclerosis complex, TSC）的基因突變有關，其他大部分是偶發性。致病機轉主要由不正常的平滑肌樣細胞（LAM cell）增生造成，於不同器官增生會造成不同的症狀。最常侵犯的部位為肺部，主要症狀為自發性氣胸、喘、疲累、肋膜積水、乳糜胸，肺外症狀如腎血管平滑肌脂肪瘤（renal angiomyolipomas）、淋巴結增生、子宮、腦膜瘤等等。診斷分為非病理診斷如基因檢測、高解析度電腦斷層等，以及病理切片診斷。初期（FEV1 ≥ 70%）可使用支氣管擴張劑、氧氣、肺部復健等治療，在較嚴重時（FEV1＜70%）則考慮使用標靶藥物治療（sirolimus, everolimus）。

1. Ando, K,Okada, Y,Akiba, M(2016).Lung Transplantation for Lymphangioleiomyomatosis in Japan.PLoS One,11,e0146749.
2. Angelo, M(2015).Clinical features, epidemiology, and therapy of lymphangioleiomyomatosis.Clin Epidemiol,7,249-257.
3. Aubry, MC,Myers, JL,Ryu, JH(2000).Pulmonary lymphangioleiomyomatosis in a man.Am J Respir Crit Care Med,162,749-752.
4. Francis XM, Nishant G. Sporadic lymphangioleiomyomatosis: Clinical presentation and diagnostic evaluation. Uptodate/ Dec 14, 2018
5. Gupta, N,Finlay, GA,Kotloff, RM(2017).Lymphangioleiomyomatosis Diagnosis and Management: High-Resolution Chest Computed Tomography, Transbronchial Lung Biopsy, and Pleural Disease Management. An Official American Thoracic Society/Japanese Respiratory Society Clinical Practice Guideline.Am J Respir Crit Care Med,196,1337-1348.
6. Harari, S,Torre, O,Moss, J.(2011).Lymphangioleiomyomatosis: what do we know and what are we looking for?.Eur Respir Rev,20,34-44.
7. Harknett, EC,Chang, WY,Byrnes, S(2011).Use of variability in national and regional data to estimate the prevalence of lymphangioleiomyomatosis.QJM,104,971-979.
8. Hong, CH,Tu, HP,Lin, JR(2016).Anestimation of the incidence of tuberous sclerosis complex in a nationwide retrospective cohort study (1997-2010).Br J Dermatol,174,1282-1289.
9. Kpodonu, J,Massad, MG,Chaer, RA(2005).The US experience with lung transplantation for pulmonary lymphangioleiomyomatosis.J Heart Lung Transplant,24,1247-1253.
10. Kristof, AS,Li, PZ,Major, P(2015).Lymphangioleiomyomatosis and Tuberous Sclerosis Complex in Quebec: Prevalence and Health-care Utilization.Chest,148,444-449.
11. LAM foundation. What is LAM?
12. Restrepo-Gualteros, SM,RodriguezMartinez, CE,Jaramillo-Barberi, LE(2015).Adolescent form of sporadic lymphangioleiomyomatosis (S-LAM).Allergol Immunopathol,43,111-114.
13. Ryu, JH,Moss, J,Beck, GJ(2006).The NHLBI lymphangioleiomyomatosis registry: characteristics of 230 patients at enrollment.Am J Respir Crit Care Med,173,105-111.