INTRODUCTION: Lymphangioleiomyomatosis (LAM) is a rare lung disease affecting primarily women of child-bearing age. Symptoms include progressive dyspnea and cough associated with recurrent spontaneous pneumothorax, chylothorax and angiomyolipomas. The LAM cell expresses estrogen and progesterone receptors suggesting a hormonal link (1). Case reports suggest disease progression during pregnancy and with estrogen use (2) thus many women diagnosed with LAM decide against pregnancy. The case of a LAM patient who becomes pregnant without any progression of her disease is described.
CASE PRESENTATION: A 32 year old woman was admitted to the hospital with dyspnea and pulse oximetry was found to be 82% while breathing room air. Her past medical history includes allergies and a renal angiomyolipoma that required embolization due to hemorrhage. She is a non-smoker who is married with a 14-month old infant. She had no complications or dyspnea during her first pregnancy. During the hospitalization, a CT scan of the chest was performed which showed thin walled cysts in both lungs. Spirometric tests gave a forced expiratory volume in 1 second (FEV1) of 1.69L (60% of predicted), forced vital capacity (FVC) of 2.99L (91% of predicted) and FEV1/FVC ratio of 57%. There was a significant response to bronchodilators and diffusing capacity was measured at 17.5 mL/mmHg/min (78% of predicted). The patient was prescribed inhalers and upon discharge, was asymptomatic. The findings on CT along with the history of the renal angiomyolipoma strongly suggested the diagnosis of LAM. The patient wanted a second child and, given the tendency of LAM to progress during pregnancy, she underwent lung biopsy for definitive diagnosis. Histology showed abnormal smooth muscle with stains positive for HMB-45 and estrogen and progesterone receptors consistent with a diagnosis of LAM. There was also goblet cell metaplasia and eosinophils suggesting asthma. Given her mild disease and lack of substantial evidence linking pregnancy and disease progression, the patient decided to proceed with pregnancy. The patient's antenatal course was uncomplicated with no symptoms of dyspnea other than mild wheezing exacerbated by allergies. After delivery of a healthy baby, a CT of the chest and pulmonary function tests were repeated and were unchanged compared to prior.
DISCUSSION: Guidelines for the management of LAM recommend that pregnancy be a decision made between the patient and her physician. This is based on data showing that the incidence of pneumothorax, chylothorax and bleeding from angiomyolipoma is increased during pregnancy. There are limited case reports of women with sporadic LAM who become pregnant without complications or progression of their symptoms. In this case report, we describe a LAM patient who had a successful pregnancy without subjective or objective worsening of her disease. Recent research has demonstrated that LAM patients have elevated serum VEGF-D (vascular endothelial growth factor-D) levels when compared to healthy subjects (3). With this discovery, more asymptomatic patients may be diagnosed with LAM and many will be women faced with the decision of whether it is safe to become pregnant. This case report describes a patient with minimal symptoms of dyspnea and no history of pneumothorax or chylothorax -- indicating mild disease. This suggests that mild disease portends a more favorable pregnancy course and therefore, disease severity should be taken into account when deciding whether to proceed with pregnancy.
CONCLUSIONS: LAM is not an absolute contraindication to pregnancy and mild disease may predict lack of progression during pregnancy in women diagnosed with LAM.
Reference #1 McCormack FX. Lymphangioleiomyomatosis: A Clinical Update. Chest 2008; 133:507-516.
Reference #2 Cohen MM et al. Pregnancy experiences among women with lymphangioleiomyomatosis. Respiratory Medicine 2009; 103(5):766-772
Reference #3 Young LR et al. Serum Vascular Endothelial Growth Factor-D Prospectively Distinguishes LAM from other diseases. Chest 2010; 138(3):674-681
DISCLOSURE: The following authors have nothing to disclose: Emily Gilbert, Daniel Dilling
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