Telangiectasia hemorrágica hereditaria: aspectos otorrinolaringologías / Hereditary hemorrhagic telangiectasia: ENT aspects

La telangiectasia hemorrágica hereditaria es una displasia vascular multisistémica caracterizada por el desarrollo de telangiectasias mucocutáneas y malformaciones arteriovenosas viscerales. Una de sus manifestaciones clínicas más frecuentes es la epistaxis recurrente, que se presenta en más del 90% de los pacientes, por lo que el otorrinolarin-gólogo debiera estar familiarizado con el diagnóstico y manejo de esta patología. Debido al carácter genético de la enfermedad, el manejo del sangrado nasal en estos pacientes es difícil. Existen diversas alternativas terapéuticas, farmacológicas y quirúrgicas, descritas para disminuir el número y gravedad de los episodios de epistaxis.

Hereditary hemorrhagic telangiectasia is a multisystemic vascular dysplasia, characterized by the development of mucocutaneoustelangiectasias and visceral arteriovenous malformations. One of its most frequent clinical manifestations is recurrent epistaxis, presenting in up to 90%% of these patients, so the otorhinolaryngologist should be familiarized with its diagnosis and management. Due to the genetic character of this disease, the management of nasal bleeding in these patients is difficult. There are several therapeutic alternatives, both pharmacological and surgical, described to decrease the number and severity of the episodes of epistaxis.

Telangiectasia hereditária hemorrágica: causa rara de hipertensão pulmonar? / Hereditary hemorrhagic telangiectasia: rare cause of pulmonary hypertension?

Uma mulher de 73 anos foi admitida ao Pronto-Socorro com insuficiência cardíaca predominantemente direita e anemia. Após avaliação clínica e imagenológica, um diagnóstico de hipertensão pulmonar (HP) associado com telangiectasia hemorrágica hereditária (THH) foi confirmado. A resposta inicial à terapia com bosentan mais sildenafil foi boa, incluindo melhora na Classe Funcional e redução do edema, permitindo que ela recebesse alta hospitalar. Infelizmente, a paciente faleceu devido à sua condição básica, antes que o efeito do tratamento combinado pudesse ser completamente avaliado. A HP deve ser considerada em pacientes com THH e o screening para HP deve ser conduzido nesses pacientes e em seus familiares.

A 73-year-old woman was admitted to the emergency room with predominantly right-sided heart failure and anemia. Following clinical and imagiological evaluation, a diagnosis of pulmonary hypertension (PH) associated with Hereditary Hemorrhagic Telangiectasia (HHT) was confirmed. The initial response to bosentan plus sildenafil was good, including improvement in functional class and reduction of edema, allowing her to be discharged. Unfortunately, the patient died, due to her underlying condition, before the effects of the combination treatment could be fully assessed. PH should be considered in patients with HTT and screening for pulmonary hypertension should be performed in these patients and their relatives.

Hereditary hemorrhagic telangiectasia Genetics, pathogenesis, clinical manifestation and management

Hereditary hemorrhagic telangiectasia HHT, Morbus Osler or Osler-Weber-Rendu syndrome OMIM 187300, is an autosomal dominant disorder characterized by epistaxis, telangiectasia, multi-systemic vascular dysplasia and clinical presentation of wide variation. The pathogenesis involves dilated post-capillary venules or telangiectases in the mucus membrane of various organs as well as larger arteriovenous malformations. Genetic heterogeneity of HHT is confirmed; 2 disease loci, ACVRL1 and ENG genes, have been identified and characterized. The 2 major types of the disease, HHT1 and HHT2, are attributed to mutations in the ENG and ACVRL1 genes. ENG and ACVRL1 genes code for proteins, namely endoglin and activin-receptor-like kinase 1 ALK-1, which are members of the TGF-beta receptor family, are essential for maintaining vascular integrity. Another gene has been implicated in HHT; the HHT3 locus linked to chromosome 5. In the last 2 decades, the genetics, pathogenesis, clinical manifestations and management of HHT have been extensively researched. At this stage, it is deemed appropriate to review the wealth of information accumulated on the topic. Better understanding of the functions of endoglin, ALK-1, and other proteins involved in the pathogenesis of HHT should facilitate better management of patients with this disorder