A 42‐year‐old woman with a history of asthma presented to her primary care physician with acute onsel of shortness of breath, chest discomfort and productive cough. She was diagnosed with bronchitis, but with worsening symptoms she subsequently presented to the emergency department. A chest x‐ray revealed a left‐sided tension pneumothorax, for which a chest lube was placed. Trie patient's hospitalization was noncomplicated and she was discharged home. Five years later the patient developed left chest pain. A chest computerized tomography (CT) was performed which showed no pneumothorax or pulmonary embolism. A solid enhancing left renal mass measuring 3.8 × 2.5 cm was noted, along with pulmonary emphysema. A left nephrectomy was performed and the biopsy was consistent with an angiomyolipoma. A year later CT scan of the abdomen as follow‐up for previous incidental liver lesions, confirmed thin walled cysts in the liver. Liver cysts in conjunction with an angiomyolipoma the diagnosis of LAM was suspected. She was referred to a pulmonologist. Differentials for her cystic lesions included alpha‐1 antitrypsin deficiency, LAM, histiocytosis X, lymphoid interstitial pneumonia and Birt‐Hogger Dube syndrome. An alpha‐1 antitrypsin level, antineutrophilic cytoplasmic antibody, MRI of the brain were all normal. The patient developed another pneumothorax and was admitted to the hospital. A left video‐assisted Thoracoscopic exploration, along with mechanical pleurodesis and left lung biopsies were performed. Biopsy results were consistent with LAM. Our patient was referred to a specialty clinic for LAM for further management.
Lymphangioleiomyomatosis (LAM) is a rare multisystem disorder of unknown etiology characterized by the proliferation of atypical smooth cells in the lungs, pleura, mediastinum, thoracic duct and retroperitoneum. The incidence of LAM is estimated to be 1–2.6 cases per 1,000,000 women. LAM may occur either sporadically or as a complication of tuberous sclerosis complex (TSC). LAM with renal angiomyolipomas can present together in as many as 50% of patients with sporadic LAM and as many as 80% of patients with TSC. We present a patient who initially presented with a spontaneous pneumothorax and was only diagnosed 6 years later with LAM.
LAM is often misdiagnosed due to nonspecific presenting symptoms. AHhough there is currently no cure for LAM, new treatments are on the horizon. LAM may be more common than previously recognized and the clinical course may be indolent, obscuring its diagnosis.
A. Tiwari, none.