Title: THE SILENCE OF "LAM": A CASE OF TUBEROUS SCLEROSIS COMPLEX ASSOCIATED WITH LYMPHANGIOLEIOMYOMATOSIS (LAM)
Abstract: SESSION TITLE: Looking Deeper: Genetic and Autoimmune Disorder Critical CasesSESSION TYPE: Rapid Fire Case ReportsPRESENTED ON: 10/18/2022 01:35 pm - 02:35 pmINTRODUCTION: Lymphangioleiomyomatosis (LAM) is a rare multisystem disorder that predominantly targets the lungs causing diffuse cystic changes due to abnormal smooth muscle-like cell proliferation. It occurs sporadically or in association to Tuberous Sclerosis Complex (TSC) affecting mostly women of childbearing age. LAM typically presents during the third decade of life with progressive dyspnea and recurrent pneumothoraxes. Other manifestations include chylothorax and renal angiomyolipoma (AML).CASE PRESENTATION: A 51-year-old female, non-smoker with history of TSC arrived at the emergency department (ED) with acute left flank pain and progressive dyspnea. Abdomino-pelvic CT revealed a retroperitoneal hemorrhage secondary to a ruptured AML of the left kidney that required emergent transcatheter embolization. On post-procedure evaluation, the patient was found with stable vital signs but in respiratory distress. Physical exam was remarkable for poor inspiratory effort, left basal crackles on lung auscultation and non-pitting lower extremity edema. Laboratories showed normocytic anemia, elevated creatinine levels and hypoxemia requiring Venturi-Mask 50%. Chest CT showed multiple thin-walled pulmonary cysts throughout both lungs without apico-basal gradient or lobar predominance and a small left-sided pleural effusion with increased attenuation. No pneumothoraxes were observed. She underwent ultrasound-guided thoracentesis resulting in dry tap. The patient was discharged to a rehabilitation facility on oxygen supplementation with nasal cannula at 3 liters and started on Sirolimus therapy. After 3 weeks, she returned to the ED with respiratory failure secondary to bilateral pulmonary embolism that required mechanical ventilation.DISCUSSION: Most patients with newly diagnosed LAM are known to have TSC since early childhood with decline rates of pulmonary function that widely varies. In this population, LAM is well-known to be a major cause of death. In this case, our patient developed acute dyspnea on late adulthood particularly following a hemorrhagic renal AML. Diagnosis was made by the clinical findings of TSC, the imaging studies and a vascular endothelial growth factor-D > 800 pg/mL. She was started on Sirolimus, an mTOR inhibitor, which has been demonstrated to improve lung function and quality of life, but subsequently developed pulmonary embolism after 3 weeks of therapy.CONCLUSIONS: LAM is a rare condition that should be considered in all patients with TSC who develops acute dyspnea. Early diagnosis and treatment with mTOR inhibitors can slow progression of decline in pulmonary function however we must raise awareness of secondary thromboembolic events.Reference #1: King, T. E., & Henske, E. (2022). Tuberous sclerosis complex associated lymphangioleiomyomatosis in adults. In H. Hollingsworth & G. Finlay (Ed.), UpToDate. Retrieved March 20, 2022, from https://www.uptodate.com/contents/tuberous-sclerosis-complex-associated-lymphangioleiomyomatosis-in-adults.Reference #2: Kania B E, Jain S, West B, et al. (June 01, 2020) Lymphangioleiomyomatosis: A Case Report and Review of Clinical Features and Management. Cureus 12(6): e8386. doi:10.7759/cureus.8386. Retrieved March 20, 2022.Reference #3: McCormack, F. X., & Gupta, N. (2022). Sporadic lymphangioleiomyomatosis: Clinical presentation and diagnostic evaluation. In H. Hollingsworth & G. Finlay (Ed.), UpToDate. Retrieved March 20, 2022, from https://www.uptodate.com/contents/sporadic-lymphangioleiomyomatosis-clinical-presentation-and-diagnostic-evaluation.DISCLOSURES: No relevant relationships by Juan Adams-ChahinNo relevant relationships by Jorge Barletta FariasNo relevant relationships by Enrique LealNo relevant relationships by Arelis Morales MalavéNo relevant relationships by Hector Oliveras-CorderoNo relevant relationships by Michel Santiago-BerriosNo relevant relationships by Ruth Santos Rodriguez SESSION TITLE: Looking Deeper: Genetic and Autoimmune Disorder Critical Cases SESSION TYPE: Rapid Fire Case Reports PRESENTED ON: 10/18/2022 01:35 pm - 02:35 pm INTRODUCTION: Lymphangioleiomyomatosis (LAM) is a rare multisystem disorder that predominantly targets the lungs causing diffuse cystic changes due to abnormal smooth muscle-like cell proliferation. It occurs sporadically or in association to Tuberous Sclerosis Complex (TSC) affecting mostly women of childbearing age. LAM typically presents during the third decade of life with progressive dyspnea and recurrent pneumothoraxes. Other manifestations include chylothorax and renal angiomyolipoma (AML). CASE PRESENTATION: A 51-year-old female, non-smoker with history of TSC arrived at the emergency department (ED) with acute left flank pain and progressive dyspnea. Abdomino-pelvic CT revealed a retroperitoneal hemorrhage secondary to a ruptured AML of the left kidney that required emergent transcatheter embolization. On post-procedure evaluation, the patient was found with stable vital signs but in respiratory distress. Physical exam was remarkable for poor inspiratory effort, left basal crackles on lung auscultation and non-pitting lower extremity edema. Laboratories showed normocytic anemia, elevated creatinine levels and hypoxemia requiring Venturi-Mask 50%. Chest CT showed multiple thin-walled pulmonary cysts throughout both lungs without apico-basal gradient or lobar predominance and a small left-sided pleural effusion with increased attenuation. No pneumothoraxes were observed. She underwent ultrasound-guided thoracentesis resulting in dry tap. The patient was discharged to a rehabilitation facility on oxygen supplementation with nasal cannula at 3 liters and started on Sirolimus therapy. After 3 weeks, she returned to the ED with respiratory failure secondary to bilateral pulmonary embolism that required mechanical ventilation. DISCUSSION: Most patients with newly diagnosed LAM are known to have TSC since early childhood with decline rates of pulmonary function that widely varies. In this population, LAM is well-known to be a major cause of death. In this case, our patient developed acute dyspnea on late adulthood particularly following a hemorrhagic renal AML. Diagnosis was made by the clinical findings of TSC, the imaging studies and a vascular endothelial growth factor-D > 800 pg/mL. She was started on Sirolimus, an mTOR inhibitor, which has been demonstrated to improve lung function and quality of life, but subsequently developed pulmonary embolism after 3 weeks of therapy. CONCLUSIONS: LAM is a rare condition that should be considered in all patients with TSC who develops acute dyspnea. Early diagnosis and treatment with mTOR inhibitors can slow progression of decline in pulmonary function however we must raise awareness of secondary thromboembolic events. Reference #1: King, T. E., & Henske, E. (2022). Tuberous sclerosis complex associated lymphangioleiomyomatosis in adults. In H. Hollingsworth & G. Finlay (Ed.), UpToDate. Retrieved March 20, 2022, from https://www.uptodate.com/contents/tuberous-sclerosis-complex-associated-lymphangioleiomyomatosis-in-adults. Reference #2: Kania B E, Jain S, West B, et al. (June 01, 2020) Lymphangioleiomyomatosis: A Case Report and Review of Clinical Features and Management. Cureus 12(6): e8386. doi:10.7759/cureus.8386. Retrieved March 20, 2022. Reference #3: McCormack, F. X., & Gupta, N. (2022). Sporadic lymphangioleiomyomatosis: Clinical presentation and diagnostic evaluation. In H. Hollingsworth & G. Finlay (Ed.), UpToDate. Retrieved March 20, 2022, from https://www.uptodate.com/contents/sporadic-lymphangioleiomyomatosis-clinical-presentation-and-diagnostic-evaluation. DISCLOSURES: No relevant relationships by Juan Adams-Chahin No relevant relationships by Jorge Barletta Farias No relevant relationships by Enrique Leal No relevant relationships by Arelis Morales Malavé No relevant relationships by Hector Oliveras-Cordero No relevant relationships by Michel Santiago-Berrios No relevant relationships by Ruth Santos Rodriguez
Publication Year: 2022
Publication Date: 2022-10-01
Language: en
Type: article
Indexed In: ['crossref']
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Cited By Count: 1
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