Update on pulmonary arteriovenous malformations

Abstract

This review aimed to provide an overview of pulmonary arteriovenous malformations, including the major clinical and radiological presentations, investigation, and treatment algorithm of the condition. The primary etiology of pulmonary arteriovenous malformations is hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, with mutations in the ENG gene on chromosome 9 (HHT type 1) or in the ACVRL1/ALK1 complex (HHT type 2). Epistaxis should always be evaluated when repeated, when associated with anemia, and in some cases of hypoxemia. In the investigation, contrast echocardiography and chest CT are essential for evaluating this condition. Embolization is the best treatment choice, especially for correction in cases of hypoxemia or to avoid systemic infections. Finally, disease management was addressed in special conditions such as pregnancy. CT follow-up should be performed every 3-5 years, depending on the size of the afferent and efferent vessels, and antibiotic prophylactic care should always be oriented. Ultimately, knowledge of the disease by health professionals is a crucial point for the early diagnosis of these patients in clinical practice, which can potentially modify the natural course of the disease.

Link between mutations in ACVRL1 and PLA2G4A genes and chronic intestinal ulcers: A case report and review of literature

“…This process regulates the transcription of target genes, promotes the proliferation and migration of endothelial cells and lumen formation, and increases vascular endothelial growth factor expression[ 20 ]. ACVRL1 has been shown to primarily participate in the formation of blood vessels, and mutations of this gene can cause various hemorrhagic disorders[ 21 - 23 ]. Furthermore, the heightened expression of ACVRL1 through transcriptional activity exhibits anti-tumor properties in lung adenocarcinoma cells[ 24 ].…”