Lymfangioleiomyomatóza

DOUBKOVÁ, Martina, Marianna ŠTEFÁNIKOVÁ, Vladimír ČAN, Zdeněk MERTA a Michal SVOBODA. Lymfangioleiomyomatóza. Klinická onkologie. Praha: Ambit Media a.s., 2019, roč. 32, č. 5, s. 367-374. ISSN 0862-495X. Dostupné z: https://dx.doi.org/10.14735/amko2019367.

Základní údaje

Originální název

Lymfangioleiomyomatóza

Název anglicky

Lymphangioleiomyomatosis

Autoři

DOUBKOVÁ, Martina (203 Česká republika, garant, domácí), Marianna ŠTEFÁNIKOVÁ (703 Slovensko, domácí), Vladimír ČAN (703 Slovensko, domácí), Zdeněk MERTA (203 Česká republika, domácí) a Michal SVOBODA (203 Česká republika)

Vydání

Klinická onkologie, Praha, Ambit Media a.s. 2019, 0862-495X

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Další údaje

Jazyk

čeština

Typ výsledku

Článek v odborném periodiku

Obor

30203 Respiratory systems

Stát vydavatele

Česká republika

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Kód RIV

RIV/00216224:14110/19:00111182

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.14735/amko2019367

Klíčová slova česky

diagnostika; genetika; lymfangioleiomyomatóza; terapie

Klíčová slova anglicky

Tuberous Sclerosis; Lymphangioleiomyomatosis; Facial angiofibromas

Štítky

rivok

Příznaky

Mezinárodní význam, Recenzováno

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Anotace

V originále

Lymphangioleiomyomatosis (LAM) is a rare systemic disease that occurs sporadically (S/LAM) or as part of tuberous sclerosis (TS/LAM). LAM is characterized by proliferation of abnormal smooth muscle cells. This disease clinically manifests as dyspnea on exertion and pneumothorax. Lymphadenopathy in the abdominal and pelvic region leading to lymphatic obstruction can also occur. LAM is associated with kidney angiomyolipoma and meningioma. The disease is diagnosed histologically and/or using typical high-resolution computed tomography findings and anamnestic information. In histopathological studies, the diagnosis is supported by detection of characteristic LAM cells. Mammalian target of rapamycin (mTOR) inhibitors are possible treatment options. Material and methods: Ten consecutive patients diagnosed with LAM and pulmonary manifestation (eight with S/LAM and two with TS/LAM) in 2002–2018 were retrospectively analyzed. Their individual clinical characteristics and our treatment experience are described. Results: The patients varied in terms of disease stage. The best predictors of prognosis were lung function parameters (forced vital capacity, forced expiratory volume in 1 second, and diffusing capacity for carbon monoxide). Four patients are currently being treated with mTOR inhibitors. This treatment stabilized lung functions in all four patients. The median follow-up was 48 months (12–132 months). Median survival was not achieved and only three patients died. Conclusion: An interdisciplinary approach is required to care for LAM patients. Cooperation of pneumologists, surgeons, oncologists, and geneticists is needed. Treatment with mTOR inhibitors led to stabilization in our patients. The side effects were well managed. © 2019, Czech Medical Association J.E. Purkyne. All rights reserved.

Anglicky

Lymphangioleiomyomatosis (LAM) is a rare systemic disease that occurs sporadically (S/LAM) or as part of tuberous sclerosis (TS/LAM). LAM is characterized by proliferation of abnormal smooth muscle cells. This disease clinically manifests as dyspnea on exertion and pneumothorax. Lymphadenopathy in the abdominal and pelvic region leading to lymphatic obstruction can also occur. LAM is associated with kidney angiomyolipoma and meningioma. The disease is diagnosed histologically and/or using typical high-resolution computed tomography findings and anamnestic information. In histopathological studies, the diagnosis is supported by detection of characteristic LAM cells. Mammalian target of rapamycin (mTOR) inhibitors are possible treatment options. Material and methods: Ten consecutive patients diagnosed with LAM and pulmonary manifestation (eight with S/LAM and two with TS/LAM) in 2002–2018 were retrospectively analyzed. Their individual clinical characteristics and our treatment experience are described. Results: The patients varied in terms of disease stage. The best predictors of prognosis were lung function parameters (forced vital capacity, forced expiratory volume in 1 second, and diffusing capacity for carbon monoxide). Four patients are currently being treated with mTOR inhibitors. This treatment stabilized lung functions in all four patients. The median follow-up was 48 months (12–132 months). Median survival was not achieved and only three patients died. Conclusion: An interdisciplinary approach is required to care for LAM patients. Cooperation of pneumologists, surgeons, oncologists, and geneticists is needed. Treatment with mTOR inhibitors led to stabilization in our patients. The side effects were well managed. © 2019, Czech Medical Association J.E. Purkyne. All rights reserved.