A young woman received a diagnosis of abdominal, sporadic lymphangioleiomyomatosis (LAM) and multiple abdominal lymphangioleiomyomas and was referred for recurrent chylous ascites responding only to a fat-free diet. On admission, pulmonary function test (PFT) results showed a moderate reduction in the transfer factor for carbon monoxide with normal exercise performance. The serum vascular endothelial growth factor D (VEGF-D) level was 2,209 pg/mL. DNA sequences, amplified at loci kg8, D16S3395, D16S3024, D16S521, and D16S291 on chromosome 16p13.3, showed a loss of heterozygosity (LOH) only for kg8. Fat-free total parenteral nutrition in association with sirolimus (2 mg po daily) was initiated. Serum sirolimus levels were maintained at concentrations between 5 and 15 ng/mL. After 1 month, reintroduction of a low-fat oral feeding was achieved without recurrence of ascites. PFT results were stable. Interestingly, clinical improvement was associated with a reduction in the VEGF-D serum level (1,558 pg/mL). LOH at the kg8 biomarker in blood LAM cells was no longer detected.

Sirolimus Therapy for Patients With Lymphangioleiomyomatosis Leads to Loss of Chylous Ascites and Circulating LAM Cells / S. Harari, D. Elia, O. Torre, E. Bulgheroni, E. Provasi, J. Moss. - In: CHEST. - ISSN 0012-3692. - 150:2(2016), pp. e29-e32. [10.1016/j.chest.2016.02.654]

Sirolimus Therapy for Patients With Lymphangioleiomyomatosis Leads to Loss of Chylous Ascites and Circulating LAM Cells

S. Harari;E. Bulgheroni;E. Provasi;
2016

Abstract

A young woman received a diagnosis of abdominal, sporadic lymphangioleiomyomatosis (LAM) and multiple abdominal lymphangioleiomyomas and was referred for recurrent chylous ascites responding only to a fat-free diet. On admission, pulmonary function test (PFT) results showed a moderate reduction in the transfer factor for carbon monoxide with normal exercise performance. The serum vascular endothelial growth factor D (VEGF-D) level was 2,209 pg/mL. DNA sequences, amplified at loci kg8, D16S3395, D16S3024, D16S521, and D16S291 on chromosome 16p13.3, showed a loss of heterozygosity (LOH) only for kg8. Fat-free total parenteral nutrition in association with sirolimus (2 mg po daily) was initiated. Serum sirolimus levels were maintained at concentrations between 5 and 15 ng/mL. After 1 month, reintroduction of a low-fat oral feeding was achieved without recurrence of ascites. PFT results were stable. Interestingly, clinical improvement was associated with a reduction in the VEGF-D serum level (1,558 pg/mL). LOH at the kg8 biomarker in blood LAM cells was no longer detected.
Adult; Antibiotics, Antineoplastic; Chylous Ascites; Diet, Fat-Restricted; Female; Humans; Loss of Heterozygosity; Lung Neoplasms; Lymphangioleiomyomatosis; Magnetic Resonance Imaging; Neoplastic Cells, Circulating; Parenteral Nutrition, Total; Pulmonary Diffusing Capacity; Respiratory Function Tests; Retroperitoneal Neoplasms; Sequence Analysis, DNA; Sirolimus; Tomography, X-Ray Computed; Vascular Endothelial Growth Factor D
Settore MED/11 - Malattie dell'Apparato Cardiovascolare
2016
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/748606
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