A narrative review of the role of sirolimus in the treatment of congenital vascular malformations

Geeurickx, Marlies; Labarque, Veerle

doi:10.1016/j.jvsv.2021.03.001

Cited by 18 publications

(22 citation statements)

References 82 publications

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“…Pleurodesis, ligation of thoracic duct were reported with various effects [ 14 , 36 ]. In recent years, given the finding that somatic/germ cell mutations of RAS/MAPK/ERK and PI3K/protein kinase B/mTOR pathways might be involved in vascular malformation, mTOR inhibitor sirolimus was used in patients with LMs [ 37 , 38 ]. In a prospective study on LMs, Adams et al reported an excellent therapeutic effect of sirolimus in controlling vascular malformation and improving patients’ quality of life [ 39 ].…”

Section: Discussionmentioning

confidence: 99%

Refractory serositis in Gorham–Stout syndrome

Zhang

et al. 2022

Orphanet J Rare Dis

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Background Gorham–Stout syndrome (GSS) is a rare disorder with various presentations and unpredictable prognoses. Previous understandings of GSS mainly focused on progressive bone destruction, while we identified a group of GSS patients with serous effusion as the first symptom. This study aimed to investigate the clinical characteristics of patients with GSS having serous effusion as the first symptom. Methods Patients diagnosed with GSS were identified through the Peking Union Medical College Hospital Medical Record System. The demographic, clinical, laboratory, and imaging data were collected. Patients who first presented with serous effusion were recruited into the serous group, while those with bone destruction were recruited into the bone group. Results Of the 23 patients with GSS enrolled, 13 were in the bone group and 10 in the serous group. The median disease duration was shorter and exercise tolerance was lower in the serous group. Despite less frequent bone pain in the serous group, the frequency of bone involvement was similar to that in the bone group. Patients in the serous group had higher rates of bilateral pleural effusion and multiple serous effusion. However, serous effusion also developed with disease progression in the bone group. Of the 17 patients treated with bisphosphonates, 14 reached bone-stable state. However, 5 out of 10 patients with serous effusion still had refractory effusions after bisphosphonates treatment. Three patients received sirolimus treatment, with an improvement in serous effusion. Seventeen patients were followed up; three patients died, two in the bone group and one in the serous group. Conclusions This study discovered that GSS could first be presented with serous effusion. We believe that this may be a new phenotype of the disease. Sirolimus might help in controlling serous effusion and improving prognosis.

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Section: Discussionmentioning

confidence: 99%

Refractory serositis in Gorham–Stout syndrome

Zhang

et al. 2022

Orphanet J Rare Dis

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“…Pleurodesis, thoracic duct ligation, and adhesion were reported with various effects [14,36]. In recent years, given the nding that somatic/germ cell mutations of RAS/MAPK/ERK and PI3K/protein kinase B/mTOR pathways might be involved in vascular malformation, mTOR inhibitor sirolimus was used in patients with LMs [37,38]. In a prospective study on LMs, Adams et al reported an excellent therapeutic effect of sirolimus in controlling vascular malformation and improving patients' quality of life [39].…”

Section: Discussionmentioning

confidence: 99%

Refractory Serositis In Gorham-Stout Syndrome

Zhang

et al. 2022

Preprint

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Background: Gorham-Stout syndrome (GSS) is a rare disorder with various presentations and unpredictable prognoses. Previous understandings of GSS mainly focused on progressive bone destruction, while we identified a group of GSS patients with serous effusion as the first symptom. This study aimed to investigate the clinical characteristics of patients with GSS having serous effusion as the first symptom. Methods: Patients diagnosed with GSS were identified through the Peking Union Medical College Hospital Medical Record System. The demographic, clinical, laboratory, and imaging data were collected. Patients who first presented with serous effusion were recruited into the serous group, while those with bone destruction were recruited into the bone group.Results: Of the 23 patients with GSS enrolled, 13 were in the bone group and 10 in the serous group. The median disease duration was shorter and exercise tolerance was lower in the serous group. Despite less frequent bone pain in the serous group, the frequency of bone involvement was similar to that in the bone group. Patients in the serous group had higher rates of bilateral pleural effusion and multiple serous effusion. However, serous effusion also developed with disease progression in the bone group. Of the 17 patients treated with bisphosphonates, 14 reached bone-stable state. However, 5 out of 10 patients with serous effusion still had refractory effusions after bisphosphonates treatment. Three patients received sirolimus treatment, with an improvement in serous effusion. Seventeen patients were followed up; three patients died, two in the bone group and one in the serous group. Conclusions: This study discovered that GSS could first be presented with serous effusion. We believe that this may be a new phenotype of the disease. Sirolimus might help in controlling serous effusion and improving prognosis.

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“…Additionally, a literature review by Geeurickx et al confirmed the efficacy of both topical sirolimus (0.01% up to 1.00%), administered once or twice daily and oral sirolimus in vascular malformations, citing case reports of VVMs treated effectively with both topical and oral sirolimus. 18,19 Additionally, a retrospective chart review for patients with slow-flow vascular malformations that were treated with sirolimus resulted in improvement of the coagulopathy as evidenced by decreased D-dimer levels. 20…”

Section: Discussionmentioning

confidence: 99%

Verrucous venous malformation with thrombocytopenia in a neonate

Reyes-Hadsall

Fayiga

Duarte

2021

Pediatric Dermatology

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Verrucous venous malformations (VVM) are rare, congenital, slow-flow vascular anomalies that have been historically difficult to characterize due to clinical mimics and unclear histological evaluation. A life-threatening complication of VVMs is localized intravascular coagulation. Herein, we describe a male neonate who presented with a congenital VVM on the left lower extremity with associated severe thrombocytopenia. We discuss the multifaceted diagnostic approach used to identify this VVM, while highlighting the use of WT-1 as a negative predictive marker; we additionally outline novel treatment options and management beyond cutaneous involvement.

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A narrative review of the role of sirolimus in the treatment of congenital vascular malformations

Cited by 18 publications

References 82 publications

Refractory serositis in Gorham–Stout syndrome

Refractory serositis in Gorham–Stout syndrome

Refractory Serositis In Gorham-Stout Syndrome

Verrucous venous malformation with thrombocytopenia in a neonate

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