Brain Perfusion SPECT in Patients with PHACES Syndrome Under Propranolol Treatment

Hernández-Martín, Sara; López-Gutiérrez, Juan Carlos; López-Fernández, S; Ramírez, M.; Miguel, Marı́a de; Coya, J.; Marín, Daniel; Tovar, J.A.

doi:10.1055/s-0031-1291300

Cited by 25 publications

(14 citation statements)

References 26 publications

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“…The data from previous studies with propranolol to treat angiomas at different levels -, including airway [25, 26] and cerebral cavernous angioma [27–29], support the plausibility of experimental use in this rare disease with a poor prognosis and no pharmacological treatment.…”

Section: Introductionmentioning

confidence: 82%

Repurposing propranolol as a drug for the treatment of retinal haemangioblastomas in von Hippel-Lindau disease

Albiñana

Escribano

Soler

et al. 2017

Orphanet J Rare Dis

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BackgroundVon Hippel-Lindau (VHL) disease is a rare oncological disease with an incidence of 1:36,000, and is characterized by the growth of different types of tumours. Haemangioblastomas in the central nervous system (CNS) and retina, renal carcinoma and pheochromocytomas are the most common tumours. The absence of treatment for VHL leads to the need of repeated surgeries as the only option for these patients. Targeting VHL-derived tumours with drugs with reduced side effects is urgent to avoid repeated CNS surgeries. Recent reports have demonstrated that propranolol, a β-blocker used for the treatment of hypertension and other cardiac and neurological diseases, is the best option for infantile hemangioma (IH). Propranolol could be an efficient treatment to control haemangioblastoma growth in VHL disease given its antiangiogenic effects that were recently demonstrated by us. The main objective of the present study was the assessment of the efficacy and safety of propranolol on retinal haemangioblastoma in von Hippel-Lindau disease (VHL).Methods7 VHL patients, from different regions of Spain, affected from juxtapapillary or peripheral haemangioblastomas were administered 120 mg propranolol daily. Patients were evaluated every 3 months for 12 months, at Virgen de la Salud Hospital (Toledo). The patients had juxtapapillary or peripheral haemangioblastomas but had refused standard treatments.ResultsPropranolol was initiated with a progressive increase up to a final dose of 120 mg daily. All tumours remained stable, and no new tumours appeared. The reabsorption of retinal exudation was noted in the two patients having exudates. No adverse effects were recorded. VEGF and miRNA 210 levels were monitored in the plasma of patients as possible biomarkers of VHL. These levels decreased in all cases from the first month of treatment.ConclusionsAlthough more studies are necessary, the results of this work suggest that propranolol is a drug to be considered in the treatment of VHL patients with retinal haemangioblastomas. VEGF and miRNA 210 could be used as biomarkers of the VHL disease activity.Trial registrationThe study has a clinical trial design and was registered at EU Clinical Trials Register and Spanish Clinical Studies Registry, EudraCT Number: 2014–003671-30. Registered 2 September 2014.

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Section: Introductionmentioning

confidence: 82%

Repurposing propranolol as a drug for the treatment of retinal haemangioblastomas in von Hippel-Lindau disease

Albiñana

Escribano

Soler

et al. 2017

Orphanet J Rare Dis

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“…Les principales contre-indications sont cardiologiques, bradycardie sinusale et bloc auriculo-ventriculaire partiel en particulier, qui doivent être exclus par un examen clinique cardiologique et un ECG en cas doute. En ce qui concerne le syndrome PHACES [1] avec des anomalies de la vascularisation cérébrale, les données sont rassurantes, une série clinique ne rapporte pas d'effets secondaires significatifs [9] et une étude hémodynamique ne montre pas de différence en termes de vascularisation cérébrale avant et sous traitement par propranolol [10]. En pratique, la solution orale de propranolol est donnée en 2 ou 3 prises quotidiennes, à la dose de1 mg/kg/j la première semaine, jusqu'à 2 à 3 mg/kg/j si la tolérance est bonne.…”

Section: Qui Peut Prescrire Le Propranolol Quand Comment Et Quelle unclassified

Traitement par propranolol des hémangiomes infantiles

Léauté‐Labrèze

2015

Archives de Pédiatrie

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“…7,8 All three of our patients underwent a brain MRI prior the commencement of treatment, and only patient 3 was started on propranolol due to the absence of cerebral vasculopathy. 7,8 All three of our patients underwent a brain MRI prior the commencement of treatment, and only patient 3 was started on propranolol due to the absence of cerebral vasculopathy.…”

Section: Discussionmentioning

confidence: 99%

Propranolol and prednisolone combination for the treatment of segmental haemangioma in PHACES syndrome

et al. 2015

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Posterior fossa malformations-haemangiomas-arterial anomalies-cardiac defects-eye abnormalities-sternal cleft and supraumbilical raphe syndrome (also known as PHACES syndrome) is a rare neurocutaneous disorder. Children presenting with these manifestations need careful ophthalmological, cardiac and neurological assessment. They may have one or more of these extracutaneous manifestations, the most common being cerebral and cardiovascular anomalies. There is controversy about treating these children with propranolol especially if they have cerebrovascular involvement with narrow, dysplastic or absent blood vessels. The concern with propranolol is that hypotension may lead to reduced cerebral blood flow and neurological consequences. Prior to propranolol the systemic treatment for haemangiomas was prednisolone and then the concern was the opposite, namely hypertension. Our proposal was whether a combination of these two drugs would provide a safer and faster recovery. We report three retrospective cases of PHACES syndrome, each of whom received treatment with a combination of propranolol and prednisolone: two children were started on prednisolone and propranolol was added because the haemangiomas failed to respond adequately; the third child was started on propranolol and developed peripheral ischaemia and ulceration necessitating a reduction in dose addition of a low dose of prednisolone. All three patients, who failed on the one treatment, responded well to combination therapy without any significant complications. These outcomes suggest that for some patients with PHACES syndrome the use of combination treatment with propranolol and prednisolone could be advantageous, potentially allowing for the introduction of low doses of each with an enhanced combined effect. The doses can be increased gradually depending on the magnetic resonance imaging findings.

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Brain Perfusion SPECT in Patients with PHACES Syndrome Under Propranolol Treatment

Cited by 25 publications

References 26 publications

Repurposing propranolol as a drug for the treatment of retinal haemangioblastomas in von Hippel-Lindau disease

Repurposing propranolol as a drug for the treatment of retinal haemangioblastomas in von Hippel-Lindau disease

Traitement par propranolol des hémangiomes infantiles

Propranolol and prednisolone combination for the treatment of segmental haemangioma in PHACES syndrome

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