open access

Vol 73, No 1-2 (2005)
ORIGINAL PAPERS
Published online: 2008-02-18
Submitted: 2013-02-22
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Pulmonary disease in patients with tuberous sclerosis

Małgorzata Sobiecka, Maria Korzeniewska-Koseła, Jan Kuś
Pneumonol Alergol Pol 2005;73(1-2):48-56.

open access

Vol 73, No 1-2 (2005)
ORIGINAL PAPERS
Published online: 2008-02-18
Submitted: 2013-02-22

Abstract

Tuberous sclerosis (TSC) is an autosomal dominant disorder with the incidence of 1/10 000. The disease is characterized by epilepsy, mental retardation, the occurrence of hamartomas in the various organs and angiomyolipomas in the kidney. According to the literature lung changes identical with lymphangioleiomyomatosis (LAM) occur in over 30% of TSC patients. We report on 6 cases diagnosed in our department in last 14 years. This is the largest group of patients with TSC and LAM collected in one center in Poland.
All patient were women. The diagnosis of LAM was confirmed by lung biopsy in 5 patients and established on the basis of clinical presentation, lung function tests and high resolution computerized tomographic scanning (HRCT) of the lung in 1 case. The mean age at diagnosis of TSC was 21 years and at the diagnosis of LAM was 28 years. Typical skin changes, angiomyolipomas of the kidney and calcifications in the brain were documented in all patients, 4 patients had nefrectomy and 4 had at least one episode of sponateous pneumothorax. Epilepsy was diagnosed in 4 of 6 cases and mental retardation in 1 (17%). Abnormal values in pulmonary function tests were common. All but one demonstrated decrease in diffusing capacity (DLCO) below 80% of predicted. 5 out of 6 had FEV1 below 80% of predicted but only 3 had FEV1%VC below 80%. Only 3 patients were given antiestrogen therapy which was medroxyprogesterone in 2 cases and tamoxifen in 1. We are unable to conclude on the efficacy of treatment due to small number of treated patients. We conclude that TSC should be suspected in LAM patients and LAM should be considered in all women with the diagnosis of TSC.
Pneumonol. Alergol. Pol. 2005, 73, 48-56.

Abstract

Tuberous sclerosis (TSC) is an autosomal dominant disorder with the incidence of 1/10 000. The disease is characterized by epilepsy, mental retardation, the occurrence of hamartomas in the various organs and angiomyolipomas in the kidney. According to the literature lung changes identical with lymphangioleiomyomatosis (LAM) occur in over 30% of TSC patients. We report on 6 cases diagnosed in our department in last 14 years. This is the largest group of patients with TSC and LAM collected in one center in Poland.
All patient were women. The diagnosis of LAM was confirmed by lung biopsy in 5 patients and established on the basis of clinical presentation, lung function tests and high resolution computerized tomographic scanning (HRCT) of the lung in 1 case. The mean age at diagnosis of TSC was 21 years and at the diagnosis of LAM was 28 years. Typical skin changes, angiomyolipomas of the kidney and calcifications in the brain were documented in all patients, 4 patients had nefrectomy and 4 had at least one episode of sponateous pneumothorax. Epilepsy was diagnosed in 4 of 6 cases and mental retardation in 1 (17%). Abnormal values in pulmonary function tests were common. All but one demonstrated decrease in diffusing capacity (DLCO) below 80% of predicted. 5 out of 6 had FEV1 below 80% of predicted but only 3 had FEV1%VC below 80%. Only 3 patients were given antiestrogen therapy which was medroxyprogesterone in 2 cases and tamoxifen in 1. We are unable to conclude on the efficacy of treatment due to small number of treated patients. We conclude that TSC should be suspected in LAM patients and LAM should be considered in all women with the diagnosis of TSC.
Pneumonol. Alergol. Pol. 2005, 73, 48-56.
Get Citation

Keywords

tuberous sclerosis; lymphangioleiomyomatosis

About this article
Title

Pulmonary disease in patients with tuberous sclerosis

Journal

Advances in Respiratory Medicine

Issue

Vol 73, No 1-2 (2005)

Pages

48-56

Published online

2008-02-18

Bibliographic record

Pneumonol Alergol Pol 2005;73(1-2):48-56.

Keywords

tuberous sclerosis
lymphangioleiomyomatosis

Authors

Małgorzata Sobiecka
Maria Korzeniewska-Koseła
Jan Kuś

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