Bibliographic Details
| 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] |
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| Database: |
MedicLatina |
