A challenging case of anemia, respiratory failure and seizures

BACKGROUND. Hemorrhagic Hereditary Telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is a rare genetic disorder characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations. AIM AND METHODS. We describe the case of a 64-year old woman in which a multidisciplinary evalua...

Descripción completa

Detalles Bibliográficos
Autores principales: Bova, Carlo, De Bartolo, Tommaso, De Stefano, Roberto, Ruvio, Martina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mattioli 1885 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10510998/
https://www.ncbi.nlm.nih.gov/pubmed/36129446
http://dx.doi.org/10.23750/abm.v93iS1.13076
Descripción
Sumario:BACKGROUND. Hemorrhagic Hereditary Telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is a rare genetic disorder characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations. AIM AND METHODS. We describe the case of a 64-year old woman in which a multidisciplinary evaluation was useful to interpret an apparently unexplained constellation of symptoms. RESULTS. Brain MRI showing ischemic stroke, pulmonary angiography demonstrating arteriovenous malformations, and capsule endoscopy detecting telangiectasias in the jejunum, along with a clinical history of recurrent epistaxis, allowed us to diagnose HHT. CONCLUSIONS. HHT is rare and difficult to diagnose. A multidisciplinary approach can aid the clinical suspicion. (www.actabiomedica.it)

Ejemplares similares