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CASE REPORT
Year : 2014  |  Volume : 3  |  Issue : 3  |  Page : 189-191

Lymphangioleiomyomatosis: A rare case report


1 Department of Pulmonary Medicine, Jawaharlal Nehru Medical College, Karnataka Lingayat Education University, Belgaum, Karnataka, India
2 Department of Womens Health, Jawaharlal Nehru Medical College, Karnataka Lingayat Education University, Belgaum, Karnataka, India

Date of Web Publication17-Sep-2014

Correspondence Address:
Vinay Mahishale
Jawaharlal Nehru Medical College, Karnataka Lingayat Education University, Belgaum-590 010, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2277-8632.140944

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  Abstract 

Lymphangioleiomyomatosis (LAM) is a rare disease of unknown etiology that traditionally affects young women of child bearing or premenopausal age. It is characterized by proliferation of atypical smooth muscle cells, preferentially along bronchovascular structures that causes progressive respiratory failure. Due to its unusual and nonspecific presenting symptoms, patients often receive missed or delayed diagnosis. This disease occurs sporadically or in association with the genetic disease tuberous sclerosis complex (TSC). We present 34-year-old young premenopausal woman with LAM.

Keywords: Chylothorax, lymphangioleiomyomatosis, pneumothorax


How to cite this article:
Mahishale V, Patil B, Ramannavar A, Suresh G, Rathi A, Sindhuri A. Lymphangioleiomyomatosis: A rare case report. J NTR Univ Health Sci 2014;3:189-91

How to cite this URL:
Mahishale V, Patil B, Ramannavar A, Suresh G, Rathi A, Sindhuri A. Lymphangioleiomyomatosis: A rare case report. J NTR Univ Health Sci [serial online] 2014 [cited 2020 Apr 2];3:189-91. Available from: http://www.jdrntruhs.org/text.asp?2014/3/3/189/140944


  Introduction Top


Pulmonary lymphangioleiomyomatosis (LAM) is a rare, idiopathic, diffuse, and progressive lung disease that affects young women of childbearing age. It occurs as a sporadic disease or with tuberous sclerosis complex (TSC), which is inherited as an autosomal dominant disorder involving multiorgan hamartomas. [1] The disease is characterized by proliferation of unique smooth muscle-like cell (LAM cell) involving the small airways, pulmonary microvasculature, and lymphatic structures leading to airway obstruction, cystic changes in the lung parenchyma, pulmonary hemorrhages, chylous pleural effusions, and pneumothorax. [2] Caucasians are affected more commonly than other racial groups. [1] The prevalence of the disease affecting the lungs of premenopausal women is reported around one per million in the UK, France, and the US. [3] Reported prevalence in Asian countries is lower, around 0.24 and 0.03 per 100,000 of population in Singapore and Korea, respectively. [4] However, prevalence of this condition in India is not known precisely. LAM is exclusively confined to women, the mean age of onset being 34 years. [5],[6],[7] About 70% of LAM patients are 20-40 years of age at the time of onset of symptoms or diagnosis. Presentation after menopause is unusual. [7] The present case is a 34-year-old woman.


  Case Report Top


A 34-year-old lady came to the outpatient department complaining of progressive breathlessness for last 4 years. Initially it was exertional in nature and presently progressed to a state where patient is dyspneic at rest. There was no history of cough, wheezing, seasonal variations of the symptoms, fever, or hemoptysis. History of paroxysmal nocturnal dyspnea, chest pain, syncope, and joint pain were absent. Patient did not give any history of receiving antitubercular therapy. She was nondiabetic and nonhypertensive. For 4 years patient was treated as the case of bronchial asthma and later as interstitial lung disease (ILD) by family physician.

On physical examination, patient was averagely built and nourished. All the vitals were in normal limits. Patient was hypoxic and cyanosed, but improved with oxygen supplementation. Clubbing was absent. Respiratory system examination was unremarkable except bilateral basal crepitations and diminished breath sounds. Cardiovascular system examination did not reveal any abnormality. Other systems were essentially normal. All the routine blood investigations were not significant. Antinuclear antibody (ANA) and human immunodeficiency virus (HIV) test were negative.

Her chest radiograph was suggestive of bilateral extensive reticulonodular pattern with cystic changes [Figure 1], but there was no evidence of pneumothorax or pleural effusion. High resolution computed tomography (CT) thorax [Figure 2] showed multiple thin walled cysts scattered bilaterally with areas of interseptal thickening. It also showed mediastinal lymphadenopathy. Spirometry showed obstructive pattern with increased lung volumes and reduced diffusion capacity (DLCO). Arterial blood gas revealed pH 7.35, PaO 2 60 mmHg, PaCO 2 28.3 mmHg, and O 2 saturation 68%. In view of severe hypoxia, noninvasive procedures like bronchoscopy and lung biopsy were performed. The diagnosis was confirmed on the basis of classical high resolution CT (HRCT) findings. The subject was put on oral progesterone with O 2 therapy. She showed good improvement in oxygen saturation and was discharged with oral progesterone and domiciliary oxygen supplementation. The case was reviewed after 6 months. There was significant improvement in dyspnea, spirometry, and arterial blood gas values. However, radiological features remained stationary with no deterioration.
Figure 1: Chest radiograph with bilateral reticulonodular shadows

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Figure 2: High resolution CT thorax showed multiple thin walled cysts scattered bilaterally with areas of interseptal thickening

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  Discussion Top


LAM is very rare disease of unknown etiology, exclusively confined to woman of child bearing age group. This condition is never reported before menarche. Postmenopausal presentation occurred only in eight of 186 patients in larger series, [7],[8],[9],[10] six of whom were taking estrogen containing hormone replacement therapy. This suggests, estrogen administration and pregnancy may accelerate the disease progression, whereas oopherectomy and progesterone may reduce it. [10],[11] The clinical manifestations of LAM are dyspnea (59%), pneumothorax (49%), and cough (39%). Chest pain (22%), chylous pleural effusions (13%), hemoptysis (18%), and wheeze are less common. [5],[6] Common extrapulmonary manifestations are retroperitoneal and renal angiomyolipomas. [12]

Diagnosis of LAM is done by open lung biopsy (gold standard) or thoracoscopic biopsy based on characteristic histological findings. Immunostaining with HMB-45, specific markers for smooth muscle components namely actin and desmin increases the specificity and sensitivity. [13] In advanced cases of LAM, open lung biopsy or transbronchial lung biopsies are avoided due to severe cardiopulmonary complications. But HRCT can often confirm the diagnosis and tissue diagnosis may not be necessary. HRCT findings suggestive of LAM are small, thin walled, air containing cyst ranging from 2-20 mm or more in diameter scattered throughout the lung fields. [14] Natural history of LAM is progressive with median survival of 8-10 years from the date of diagnosis.

There is no specific treatment or cure for this condition. However, oopherectomy, progesterone, and more recently tomexifen have been employed in the management of LAM. Surgical intervention is needed for management of recurrent pneumothorax or chylothorax.

Our patient presented with progressive dyspnea initially diagnosed as a case of bronchial asthma and later as ILD was treated with azathioprine and corticosteroids by family physician. Over a period of 2-3 years, patient's dyspnea has progressed; but she did not have pneumothorax, chylothorax, renal angiomas, or any features suggestive of tuberous sclerosis. The diagnosis of LAM was made on the basis of the HRCT findings. She was started on progesterone and domiciliary oxygen therapy. Patient has shown significant improvement.

 
  References Top

1.Talmadge E, King Jr. Pulmonary lymphangioliomyomatosis. In: Fishman's Pulmonary Diseases and Disorders. 4 th ed. New York: Mac Graw Hill; 2008. p. 1255-63.  Back to cited text no. 1
    
2.Kalassian KG, Raffin TA. Lymphangioleiomyomatosis. In: Murray JF, Nadel JA, editors. Text book of Respiratory Medicine. 3 rd ed. Philadelphia: WB Saunders; 2000. p. 1775-88.  Back to cited text no. 2
    
3.Johnson S. Rare disease. 1. Lymphangioleiomyomatosis: Clinical features, management and basic mechanisms. Thorax 1999;54:254-64.  Back to cited text no. 3
    
4.NHLBI Workshop Summary. Report of workshop on lymphangioleiomyomatosis. National Heart, Lung, and Blood Institute. Am J Respir Crit Care Med 1999;159:679-83.  Back to cited text no. 4
[PUBMED]    
5.Corrin B, Liebow AA, Friedman PJ. Pulmonary lymphangioleiomyomatosis. Am J Pathol 1975;79:348-82.  Back to cited text no. 5
[PUBMED]    
6.Taylor JR, Ryu J, Colby TV, Raffin TA. Lymphangioleiomyomatosis. Clinical course in 32 patients. N Engl J Med 1990;323:1254-60.  Back to cited text no. 6
    
7.Kitaichi M, Nishimura K, Itoh H, Izumi T. Pulmonary lymphangioleiomyomatosis: A report of 46 patients including a clinicopathologic study of prognostic factors. Am J Respir Crit Care Med 1995;151:527-33.  Back to cited text no. 7
    
8.Silverstein EF, Ellis K, Wolff M, Jaretzki A 3rd. Pulmonary lymphangioleiomyomatosis. Am J Roentgenol Radium Ther Nucl Med 1974;120:832-50.  Back to cited text no. 8
[PUBMED]    
9.Wahedna I, Cooper S, Williams J, Paterson IC, Britton JR, Tattersfield AE, et al. Relation of pulmonary lymphangio-leiomyomatosis to use of the oral contraceptive pill and fertility in the UK: A national case control study. Thorax 1994;49:910-4.  Back to cited text no. 9
    
10.Shen A, Iseman MD, Waldron JA, King TE. Exacerbation of pulmonary lymphangioleiomyomatosis by exogenous estrogens. Chest 1987;91:782-5.  Back to cited text no. 10
[PUBMED]    
11.Brunelli A, Catalini G, Fianchini A. Pregnancy exacerbating unsuspected mediastinal lymphangioleiomyomatosis and chylothorax. Int J Gynecol Obstet 1996;52:289-90.  Back to cited text no. 11
    
12.Goel NO, Patil D, Nemade H, Kularni JN. Hormonal changes influencing growth of renal angimyolipoma in pregnant women. Bombay Hosp J 2006;494-6.  Back to cited text no. 12
    
13.Bonetti F, Chiodera PL, Pea M, Martignoni G, Bosi F, Zamboni G, et al. Transbronchial biopsy in lymphangeoleiomyomatosis of lung, HMB-45for diagnosis. AMJ Surg Pathol 1993;17:1092-102.  Back to cited text no. 13
    
14.Muller NL, Chiles C, Kullnig P. Pulmonary lymphangiomyomatosis: Correlation of CT with radiographic and functional findings. Radiology 1990;175:335-9.  Back to cited text no. 14
    


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