Sclerotherapy on Demand with Polidocanol to Treat HHT Nosebleeds

Salazar, Sol Marcos; Botella, Luisa María; Albiñana, Virginia; Arbia, Agustina; Rosales, Anna María de

doi:10.3390/jcm10173845

Cited by 7 publications

(7 citation statements)

References 16 publications

(21 reference statements)

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“…His main problem was anemia, requiring transfusions from time to time due to his severe epistaxis. The patient travelled from Peru to be treated of his epistaxis by sclerotherapy performed by an HHT-ENT referrer at the Hospital Universitario Fundación Alcorcón (HUFA) [ 13 ]. In addition, the proband was examined for the presence of AVMs in lung, brain, and liver.…”

Section: Resultsmentioning

confidence: 99%

“…The cooperation began with the visit to Spain of the index case, diagnosed at the National Institute of Neoplasic diseases in Lima, Peru, as a patient with HHT, following Curaçao criteria. Clinical care included treatment with an ENT specialist in HHT and a clinician of reference in the treatment of epistaxis in HHT, by applying the sclerotherapy technique [ 13 ]. Clinical care was also completed with a visit to internal medicine for the detection of possible AVMs in internal organs.…”

Section: Discussionmentioning

confidence: 99%

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A Novel Splicing Mutation in the ACVRL1/ALK1 Gene as a Cause of HHT2

Díaz

Peñalva

Recio-Poveda

et al. 2022

JCM

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Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations in multiple organs. Different deletions or nonsense mutations have been described in the ENG (HHT1) or ACVRL1/ALK1 (HHT2) genes, all affecting endothelial homeostasis. A novel mutation in ACVRL1/ALK1 has been identified in a Peruvian family with a clinical history compatible to HHT. Subsequently, 23 DNA samples from oral exchanges (buccal swaps) of the immediate family members were analyzed together with their clinical histories. A routine cDNA PCR followed by comparative DNA sequencing between the founder and another healthy family member showed the presence of the aforementioned specific mutation. The single mutation detected (c.525 + 1G > T) affects the consensus splice junction immediately after exon 4, provokes anomalous splicing and leads to the inclusion of intron IV between exons 4 and 5 in the ACVRL1/ALK1 mRNA and, therefore, to ALK1 haploinsufficiency. Complete sequencing determined that 10 of the 25 family members analyzed were affected by the same mutation. Notably, the approach described in this report could be used as a diagnostic technique, easily incorporated in clinical practice in developing countries and easily extrapolated to other patients carrying such a mutation.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A Novel Splicing Mutation in the ACVRL1/ALK1 Gene as a Cause of HHT2

Díaz

Peñalva

Recio-Poveda

et al. 2022

JCM

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“…In the cases of severe epistaxis, the coagulation of the intranasal lesions can be necessary. These measures can be performed in-office by local anesthesia, but excessive bleeding can require interventions (laser therapy, coagulation and the closure of feeders, e.g., closure of the sphenopalatine artery, or sclerotherapy) under general anesthesia [ 16 , 20 , 22 ]. If those measures cannot improve the severity of epistaxis or if the involvement of other organs requires treatment, such as the gastrointestinal tract or the liver, drug therapies (tranexamic acid, bevacizumab, thalidomide and tacrolimus) are available [ 10 , 15 , 23 , 24 , 25 ].…”

Section: Osler Calendar Content and Resultsmentioning

confidence: 99%

Hereditary Hemorrhagic Telangiectasia: Success of the Osler Calendar for Documentation of Treatment and Course of Disease

Seebauer¹,

Freigang²,

Schwan³

et al. 2021

JCM

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Hereditary hemorrhagic telangiectasia (HHT; Rendu-Osler-Weber syndrome) affects the capillary and larger vessels, leading to arteriovenous shunts. Epistaxis is the main symptom impairing quality of life. The aim of the Osler Calendar is to offer information about the extent of the systemic disease and the current state of treatment. A care plan with information on the rare disease and self-treatment of epistaxis was created. Organ examinations and ongoing treatments were recorded. A questionnaire documents the treatment success, including patient satisfaction, frequency of hemorrhage and hemoglobin levels. The patients using the Osler Calendar for at least one year (n = 54) were surveyed. Eighty-five percent of patients (n = 46) used the calendar to gain information about HHT. Seventy-two percent (n = 39) used the Osler Calendar for instructions on the self-treatment of nosebleeds. The calendar increased patients’ understanding for the need for organ screenings from 48% (n = 26) to 81% (n = 44). Seventy-nine percent (n = 43) of patients confirmed that the Osler Calendar documented their therapeutic process either well or very well. Fifty-two percent (n = 28) saw an improvement in the therapeutic process due to the documentation. The Osler Calendar records the individual intensity of the disease and facilitates the communication between attending physicians. It is a tool for specialists to review treatment strategies. Furthermore, the calendar enhances patients’ comprehension of their condition.

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“…This approach produces fewer complications than laser treatments, can be carried out with local anesthesia and as an outpatient setting, and prospective studies support its benefit in terms of reducing epistaxis [ 34 , 59 ]. Sclerotherapy requires expertise and is not a procedure that is readily available in most areas; it is only carried out in a few centers around the United States and Europe [ 60 ].…”

Section: Treatmentmentioning

confidence: 99%

Hereditary Hemorrhagic Telangiectasia: Genetics, Pathophysiology, Diagnosis, and Management

Viteri-Noel

García

Peña

et al. 2022

JCM

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Hereditary hemorrhagic telangiectasia is an inherited disease related to an alteration in angiogenesis, manifesting as cutaneous telangiectasias and epistaxis. As complications, it presents vascular malformations in organs such as the lung, liver, digestive tract, and brain. Currently, diagnosis can be made using the Curaçao criteria or by identifying the affected gene. In recent years, there has been an advance in the understanding of the pathophysiology of the disease, which has allowed the use of new therapeutic strategies to improve the quality of life of patients. This article reviews some of the main and most current evidence on the pathophysiology, clinical manifestations, diagnostic approach, screening for complications, and therapeutic options, both pharmacological and surgical.

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Sclerotherapy on Demand with Polidocanol to Treat HHT Nosebleeds

Cited by 7 publications

References 16 publications

A Novel Splicing Mutation in the ACVRL1/ALK1 Gene as a Cause of HHT2

A Novel Splicing Mutation in the ACVRL1/ALK1 Gene as a Cause of HHT2

Hereditary Hemorrhagic Telangiectasia: Success of the Osler Calendar for Documentation of Treatment and Course of Disease

Hereditary Hemorrhagic Telangiectasia: Genetics, Pathophysiology, Diagnosis, and Management

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