Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease)

Abstract

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is a hereditary disorder leading to easily bleeding telangiectases on skin and mucosal surfaces, and it is associated with the presence of arteriovenous malformations (AVMs) in multiple organ systems. These AVMs may cause serious complications when they are located in the lungs, liver, or brain. The prevalence of AVMs in patients with HHT might be higher than previously estimated. Nowadays, treatment is often possible. In some families, mutations have been shown in the gene encoding for a transforming growth factor receptor, endoglin. Genetic heterogeneity has been demonstrated, suggesting involvement of other transforming growth factor receptors. This might explain the variable clinical expression of the disease. In view of the high prevalence of pulmonary and cerebral AVMs, all patients with HHT should be screened for their presence, and relatives of patients with HHT should be investigated for presence of the disease.

Síndrome de Rendu-Osler-Weber: relato de caso e revisão de literatura

“…The homozygote form is not compatible with life 6 . Many genes have been identified and implicated with the disease's pathogenesis; however, the most important ones so far are the Endoglin (ENG) in chromosome 9 and the type II A Activin -Como I (ACVRL-1) receptor, being the former associated with a variant with pulmonary manifestations, known as THH1 and the latter with a more subtle phenotype of late onset 8 .…”

“…The multiple clinical manifestations associated with Hereditary Hemorrhagic Telangiectasia involve nasal, skin, pulmonary, cerebral and gastrointestinal tract vascular abnormalities 5,6 .…”

“…Blood vessels from other regions may also be involved, especially those from the lungs, brain, skin and gastrointestinal tract 1,[4][5][6] .…”

“…The important thing here is to control the disease for as long as possible. Options vary between anterior and posterior nasal packing and chemical or laser cauterization of the lesions, all the way to surgical treatment, such as dermoseptoplasty and nasal cavity obliteration through Young's approach 5,6 . With the progress in diagnostic image tests, today it is possible to embolize the Maxillary, Ethmoidal or Sphenoidal arteries, as well as ligation of the Maxillary or Palatine arteries in recurrent cases, in an attempt to contain bleeding and improve the patient's anemia 5 .…”

“…In 1901, Wiliam Osler (1849 -1919) reported three cases in which he described the disease's hereditary characteristic; he was also the first to report that viscera could be affected [4][5][6] .…”