Efficacy of systemic sirolimus in the treatment of generalized lymphatic anomaly and Gorham–Stout disease
KW Ricci, AM Hammill… - Pediatric blood & …, 2019 - Wiley Online Library
KW Ricci, AM Hammill, P Mobberley‐Schuman, SC Nelson, J Blatt, JLG Bender…
Pediatric blood & cancer, 2019•Wiley Online LibraryBackground Generalized lymphatic anomaly (GLA) and Gorham–Stout disease (GSD) are
rare complicated lymphatic malformations that occur in multiple body sites and are
associated with significant morbidity and mortality. Treatment options have been limited, and
conventional medical therapies have been generally ineffective. Emerging data suggest a
role for sirolimus as a treatment option for complex lymphatic anomalies. Procedure Disease
response was evaluated by radiologic imaging, quality of life (QOL), and clinical status …
rare complicated lymphatic malformations that occur in multiple body sites and are
associated with significant morbidity and mortality. Treatment options have been limited, and
conventional medical therapies have been generally ineffective. Emerging data suggest a
role for sirolimus as a treatment option for complex lymphatic anomalies. Procedure Disease
response was evaluated by radiologic imaging, quality of life (QOL), and clinical status …
Background
Generalized lymphatic anomaly (GLA) and Gorham–Stout disease (GSD) are rare complicated lymphatic malformations that occur in multiple body sites and are associated with significant morbidity and mortality. Treatment options have been limited, and conventional medical therapies have been generally ineffective. Emerging data suggest a role for sirolimus as a treatment option for complex lymphatic anomalies.
Procedure
Disease response was evaluated by radiologic imaging, quality of life (QOL), and clinical status assessments in children and young adults with GLA and GSD from a multicenter systematic retrospective review of patients treated with oral sirolimus and the prospective phase 2 clinical trial assessing the efficacy and safety of sirolimus in complicated vascular anomalies (NCT00975819). Sirolimus dosing regimens and toxicities were also assessed.
Results
Eighteen children and young adults with GLA (n = 13) or GSD (n = 5) received oral sirolimus. Fifteen patients (83%) had improvement in one or more aspects of their disease (QOL 78%, clinical status 72%, imaging 28%). No patients with bone involvement had progression of bone disease, and the majority had symptom or functional improvement on sirolimus. Improvement of pleural and pericardial effusion(s) occurred in 72% and 50% of affected patients; no effusions worsened on treatment.
Conclusions
Sirolimus appears effective at stabilizing or reducing signs/symptoms of disease in patients with GLA and GSD. Functional impairment and/or QOL improved in the majority of individuals with GLA and GSD with sirolimus treatment.
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