Rare disease
CASE REPORT
Recovery of chylous pulmonary congestion in tuberous sclerosis complex-associated lymphangioleiomyomatosis Yoshiaki Kinoshita, Atsuhiko Sakamoto, Kouko Hidaka Division of Respiratory Medicine, Department of Internal Medicine, National Hospital Organization, Kokura Medical Center, Kitakyushu, Japan Correspondence to Dr Yoshiaki Kinoshita, [email protected] Accepted 26 September 2014
SUMMARY Chyloptysis and chylous pulmonary congestion are extremely rare complications of lymphangioleiomyomatosis (LAM). We report a case of a 50-year-old woman with tuberous sclerosis complex-associated LAM, who presented with expectorating milky-white bronchial casts. She was diagnosed with chyloptysis and chylous pulmonary congestion by sputum analysis. Her symptoms and lung infiltration were improved by oral sirolimus therapy; moreover, serum Krebs von den Lungen-6 (KL-6) levels paralleled the symptoms and lung infiltration of these complications. We suggest that serum KL-6 may be a useful monitoring biomarker of chyloptysis and chylous pulmonary congestion in LAM.
BACKGROUND Lymphangioleiomyomatosis (LAM) is a multisystem disorder characterised by the unregulated growth of smooth muscle cells through an abnormal mammalian target of rapamycin signalling pathway.1 Clinical manifestations of LAM include cystic lung destruction, pneumothorax, chylothorax, renal angiomyolipomas, lymphadenopathy and abdominal lymphangiomyomas.1 Chyloptysis and chylous pulmonary congestion are extremely rare complications of LAM.2 We report a case of chyloptysis and chylous pulmonary congestion in tuberous sclerosis complex-associated LAM successfully treated with sirolimus.
CASE PRESENTATION A 50-year-old non-smoking woman with tuberous sclerosis complex-associated LAM was referred to our institution for expectorating milky-white bronchial casts (figure 1). Eighteen months before initiating sirolimus therapy, she had presented with multiple parenchymal cysts and left chylothorax
To cite: Kinoshita Y, Sakamoto A, Hidaka K. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014205701
(figure 2A). She underwent a surgical lung biopsy, and LAM was confirmed pathologically (figure 3A, B). Moreover, we established the diagnosis of tuberous sclerosis complex-associated LAM based on the presence of cortical tubers and non-renal hamartoma (2 cm in right hepatic lobe, 3 cm in left hepatic lobe, and 3.5 cm in pancreas head). Chylothorax was then treated with chemical pleurodesis. Six months before initiating sirolimus therapy, chest CT revealed multiple parenchymal cysts, ground-grass opacity and interlobular septal thickening (figure 2B). Sputum chemical analysis (induced using 0.9% saline for 15 min) revealed high triglyceride (540 mg/dL), cholesterol (94 mg/ dL), vascular endothelial growth factor-D (VEGF-D; 4435 pg/mL) and Krebs von den Lungen-6 (KL-6; 4937 U/mL) levels. Microscopically, her sputum contained Sudan III positive materials (figure 4). Therefore, she was diagnosed with chyloptysis and chylous pulmonary congestion.
OUTCOME AND FOLLOW-UP Five months before initiating sirolimus therapy, her clinical course improved slightly with only a low-fat diet (figure 2C) but deteriorated again 5 months later (figure 2D). Therefore, oral sirolimus therapy (1 mg/day) was initiated, and her symptoms of cough and sputum disappeared within a month. Three months after initiating sirolimus therapy, chest CT revealed complete resolution of her lung infiltration (figure 2E) and size reduction of non-renal hamartoma, but the number and size of multiple parenchymal lung cysts remained unchanged. We measured serum levels of KL-6 and VEGF-D at the time of diagnosis of chyloptysis and chylous pulmonary congestion; KL-6 and VEGF-D levels were elevated as follows: 6216 U/mL (normal range
CASE REPORT
Recovery of chylous pulmonary congestion in tuberous sclerosis complex-associated lymphangioleiomyomatosis Yoshiaki Kinoshita, Atsuhiko Sakamoto, Kouko Hidaka Division of Respiratory Medicine, Department of Internal Medicine, National Hospital Organization, Kokura Medical Center, Kitakyushu, Japan Correspondence to Dr Yoshiaki Kinoshita, [email protected] Accepted 26 September 2014
SUMMARY Chyloptysis and chylous pulmonary congestion are extremely rare complications of lymphangioleiomyomatosis (LAM). We report a case of a 50-year-old woman with tuberous sclerosis complex-associated LAM, who presented with expectorating milky-white bronchial casts. She was diagnosed with chyloptysis and chylous pulmonary congestion by sputum analysis. Her symptoms and lung infiltration were improved by oral sirolimus therapy; moreover, serum Krebs von den Lungen-6 (KL-6) levels paralleled the symptoms and lung infiltration of these complications. We suggest that serum KL-6 may be a useful monitoring biomarker of chyloptysis and chylous pulmonary congestion in LAM.
BACKGROUND Lymphangioleiomyomatosis (LAM) is a multisystem disorder characterised by the unregulated growth of smooth muscle cells through an abnormal mammalian target of rapamycin signalling pathway.1 Clinical manifestations of LAM include cystic lung destruction, pneumothorax, chylothorax, renal angiomyolipomas, lymphadenopathy and abdominal lymphangiomyomas.1 Chyloptysis and chylous pulmonary congestion are extremely rare complications of LAM.2 We report a case of chyloptysis and chylous pulmonary congestion in tuberous sclerosis complex-associated LAM successfully treated with sirolimus.
CASE PRESENTATION A 50-year-old non-smoking woman with tuberous sclerosis complex-associated LAM was referred to our institution for expectorating milky-white bronchial casts (figure 1). Eighteen months before initiating sirolimus therapy, she had presented with multiple parenchymal cysts and left chylothorax
To cite: Kinoshita Y, Sakamoto A, Hidaka K. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014205701
(figure 2A). She underwent a surgical lung biopsy, and LAM was confirmed pathologically (figure 3A, B). Moreover, we established the diagnosis of tuberous sclerosis complex-associated LAM based on the presence of cortical tubers and non-renal hamartoma (2 cm in right hepatic lobe, 3 cm in left hepatic lobe, and 3.5 cm in pancreas head). Chylothorax was then treated with chemical pleurodesis. Six months before initiating sirolimus therapy, chest CT revealed multiple parenchymal cysts, ground-grass opacity and interlobular septal thickening (figure 2B). Sputum chemical analysis (induced using 0.9% saline for 15 min) revealed high triglyceride (540 mg/dL), cholesterol (94 mg/ dL), vascular endothelial growth factor-D (VEGF-D; 4435 pg/mL) and Krebs von den Lungen-6 (KL-6; 4937 U/mL) levels. Microscopically, her sputum contained Sudan III positive materials (figure 4). Therefore, she was diagnosed with chyloptysis and chylous pulmonary congestion.
OUTCOME AND FOLLOW-UP Five months before initiating sirolimus therapy, her clinical course improved slightly with only a low-fat diet (figure 2C) but deteriorated again 5 months later (figure 2D). Therefore, oral sirolimus therapy (1 mg/day) was initiated, and her symptoms of cough and sputum disappeared within a month. Three months after initiating sirolimus therapy, chest CT revealed complete resolution of her lung infiltration (figure 2E) and size reduction of non-renal hamartoma, but the number and size of multiple parenchymal lung cysts remained unchanged. We measured serum levels of KL-6 and VEGF-D at the time of diagnosis of chyloptysis and chylous pulmonary congestion; KL-6 and VEGF-D levels were elevated as follows: 6216 U/mL (normal range
