Sporadische Lymphangioleiomyomatose (sLAM) und Tuberöse-Sklerose-Komplex (TSC) – Pulmonale Manifestationen

Zusammenfassung

LAM ist eine seltene Multisystemerkrankung, die nahezu ausschließlich Frauen im gebärfähigen Alter betrifft. LAM kann in zwei verschiedenen Formen auftreten: erstens als nicht vererbbare sporadische LAM (sLAM) und zweitens als autosomal dominant vererbbare Erkrankung im Rahmen des Tuberöse-Sklerose-Komplexes (TSC). Bei bis zu 50 % der weiblichen TSC-Patienten wird eine Lungenbeteiligung in Form einer Lymphangioleiomyomatose (TSC-LAM) beschrieben, die meist ab einem Alter von 20 – 35 Jahren symptomatisch wird und die zu einer langsam fortschreitenden Verschlechterung der Lungenfunktion von ca. 3 – 11 % der Diffusionskapazität pro Jahr führen kann. Daher sollten alle weiblichen TSC-Patienten ab der Adoleszenz auf pulmonale Manifestationen untersucht werden. (Lungenfunktion, 6-Minuten-Gehtest und HR-CT). Die Wirksamkeit einer Therapie mit mTOR-Inhibitoren wie z. B. Everolimus oder Sirolimus bei verschiedenen Manifestationen von TSC inkl. LAM konnte in den letzten Jahren gezeigt werden. Die systematische Erfassung aller krankheitsrelevanten Manifestationen ermöglicht eine Verbesserung der Prognose und verhindert Komplikationen.

Abstract

Lymphangioleiomyomatosis (LAM) is a rare multi-system disorder affecting predominantly women of childbearing age. The disease entity is divided in sporadic LAM (sLAM) and LAM associated with tuberous sclerosis complex (TSC). In up to 50 % of female TSC-patients pulmonary involvement (TSC-LAM) can be found, with first clinical symptoms usually starting between 25 and 30 years of age. Progressive deterioration of lung function of 3 – 11 % of diffusion capacity per year has been described, that’s why all female TSC patients should be screened for LAM (pulmonary function testing, 6-minute walk test, high-resolution chest CT scan). MTOR inhibitors such as Everolimus or Sirolimus are implemented in the treatment of TSC/LAM and found to control disease burden. Screening for all organ manifestations in TSC is recommended and allows to improve prognosis and to prevent complications in TSC.

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