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Telangiectasia hemorrágica hereditaria (Rendu-Osler-Weber): afectación en piel y vía digestiva.

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Title: Telangiectasia hemorrágica hereditaria (Rendu-Osler-Weber): afectación en piel y vía digestiva.
Alternate Title: HEREDITARY HEMORRHAGIC TELANGIECTASIA (RENDU-OSLERWEBER): SKIN AND DIGESTIVE TRACT INVOLVEMENT.
Authors: Thorné-Vélez, Ana María1 anamariathorne22@gmail.com, Imbeth-Acosta, Pedro Luis2
Source: Revista de la Asociación Colombiana de Dermatología y Cirugía Dermatológica. ene-mar2026, Vol. 34 Issue 1, p1-7. 7p.
Subjects: HEREDITARY hemorrhagic telangiectasia, TELANGIECTASIA, CUTANEOUS manifestations of general diseases, THERAPEUTICS, GENETIC disorders, ARTERIOVENOUS malformation, ALIMENTARY canal
Abstract (English): Rendu-Osler-Weber syndrome, or hereditary hemorrhagic telangiectasia (HHT), is an autosomal dominant genetic disorder characterized by telangiectasias and arteriovenous malformations (AVMs) predisposing to hemorrhage. The main variants are HHT type 1 (ENG gene mutation) and HHT type 2 (ALK1 gene mutation). Manifestations include recurrent epistaxis, telangiectasias in the skin and mucosa, and AVMs in internal organs such as the brain, lungs, liver, and digestive tract. Diagnosis is based on the Curaçao criteria and genetic testing, and family screening is essential to prevent complications. Treatment includes antifibrinolytics such as tranexamic acid and interventional procedures such as laser coagulation and sclerotherapy in severe cases. A multidisciplinary approach improves quality of life and reduces risks related to vascular complications. [ABSTRACT FROM AUTHOR]
Abstract (Spanish): El síndrome de Rendu-Osler-Weber, o telangiectasia hemorrágica hereditaria (THH), es un trastorno genético autosómico dominante caracterizado por telangiectasias y malformaciones arteriovenosas (MAV) que predisponen a hemorragias. Las principales variantes son THH tipo 1 (mutación en el gen ENG) y THH tipo 2 (mutación en ALK1). Sus manifestaciones incluyen epistaxis recurrente, telangiectasias en piel y mucosas y MAV en órganos internos como el cerebro, los pulmones, el hígado y el tracto digestivo. El diagnóstico se basa en los criterios de Curaçao y las pruebas genéticas, donde es fundamental el tamizaje familiar para prevenir las complicaciones. El tratamiento incluye antifibrinolíticos, como el ácido tranexámico, y procedimientos intervencionistas como la coagulación con láser y la escleroterapia en casos graves. Un enfoque multidisciplinario mejora la calidad de vida y reduce los riesgos relacionados con las complicaciones vasculares. [ABSTRACT FROM AUTHOR]
Copyright of Revista de la Asociación Colombiana de Dermatología y Cirugía Dermatológica is the property of Asociacion Colombiana de Dermatologia y Cirugia Dermatologica and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: MedicLatina
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  Data: Telangiectasia hemorrágica hereditaria (Rendu-Osler-Weber): afectación en piel y vía digestiva.
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  Data: HEREDITARY HEMORRHAGIC TELANGIECTASIA (RENDU-OSLERWEBER): SKIN AND DIGESTIVE TRACT INVOLVEMENT.
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  Data: <searchLink fieldCode="AR" term="%22Thorné-Vélez%2C+Ana+María%22">Thorné-Vélez, Ana María</searchLink><relatesTo>1</relatesTo><i> anamariathorne22@gmail.com</i><br /><searchLink fieldCode="AR" term="%22Imbeth-Acosta%2C+Pedro+Luis%22">Imbeth-Acosta, Pedro Luis</searchLink><relatesTo>2</relatesTo>
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  Data: <searchLink fieldCode="DE" term="%22HEREDITARY+hemorrhagic+telangiectasia%22">HEREDITARY hemorrhagic telangiectasia</searchLink><br /><searchLink fieldCode="DE" term="%22TELANGIECTASIA%22">TELANGIECTASIA</searchLink><br /><searchLink fieldCode="DE" term="%22CUTANEOUS+manifestations+of+general+diseases%22">CUTANEOUS manifestations of general diseases</searchLink><br /><searchLink fieldCode="DE" term="%22THERAPEUTICS%22">THERAPEUTICS</searchLink><br /><searchLink fieldCode="DE" term="%22GENETIC+disorders%22">GENETIC disorders</searchLink><br /><searchLink fieldCode="DE" term="%22ARTERIOVENOUS+malformation%22">ARTERIOVENOUS malformation</searchLink><br /><searchLink fieldCode="DE" term="%22ALIMENTARY+canal%22">ALIMENTARY canal</searchLink>
– Name: Abstract
  Label: Abstract (English)
  Group: Ab
  Data: Rendu-Osler-Weber syndrome, or hereditary hemorrhagic telangiectasia (HHT), is an autosomal dominant genetic disorder characterized by telangiectasias and arteriovenous malformations (AVMs) predisposing to hemorrhage. The main variants are HHT type 1 (ENG gene mutation) and HHT type 2 (ALK1 gene mutation). Manifestations include recurrent epistaxis, telangiectasias in the skin and mucosa, and AVMs in internal organs such as the brain, lungs, liver, and digestive tract. Diagnosis is based on the Curaçao criteria and genetic testing, and family screening is essential to prevent complications. Treatment includes antifibrinolytics such as tranexamic acid and interventional procedures such as laser coagulation and sclerotherapy in severe cases. A multidisciplinary approach improves quality of life and reduces risks related to vascular complications. [ABSTRACT FROM AUTHOR]
– Name: Abstract
  Label: Abstract (Spanish)
  Group: Ab
  Data: El síndrome de Rendu-Osler-Weber, o telangiectasia hemorrágica hereditaria (THH), es un trastorno genético autosómico dominante caracterizado por telangiectasias y malformaciones arteriovenosas (MAV) que predisponen a hemorragias. Las principales variantes son THH tipo 1 (mutación en el gen ENG) y THH tipo 2 (mutación en ALK1). Sus manifestaciones incluyen epistaxis recurrente, telangiectasias en piel y mucosas y MAV en órganos internos como el cerebro, los pulmones, el hígado y el tracto digestivo. El diagnóstico se basa en los criterios de Curaçao y las pruebas genéticas, donde es fundamental el tamizaje familiar para prevenir las complicaciones. El tratamiento incluye antifibrinolíticos, como el ácido tranexámico, y procedimientos intervencionistas como la coagulación con láser y la escleroterapia en casos graves. Un enfoque multidisciplinario mejora la calidad de vida y reduce los riesgos relacionados con las complicaciones vasculares. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of Revista de la Asociación Colombiana de Dermatología y Cirugía Dermatológica is the property of Asociacion Colombiana de Dermatologia y Cirugia Dermatologica and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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RecordInfo BibRecord:
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    Identifiers:
      – Type: doi
        Value: 10.29176/2590843X.2065
    Languages:
      – Code: spa
        Text: Spanish
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        PageCount: 7
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    Subjects:
      – SubjectFull: HEREDITARY hemorrhagic telangiectasia
        Type: general
      – SubjectFull: TELANGIECTASIA
        Type: general
      – SubjectFull: CUTANEOUS manifestations of general diseases
        Type: general
      – SubjectFull: THERAPEUTICS
        Type: general
      – SubjectFull: GENETIC disorders
        Type: general
      – SubjectFull: ARTERIOVENOUS malformation
        Type: general
      – SubjectFull: ALIMENTARY canal
        Type: general
    Titles:
      – TitleFull: Telangiectasia hemorrágica hereditaria (Rendu-Osler-Weber): afectación en piel y vía digestiva.
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              Text: ene-mar2026
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              Y: 2026
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