| Summary: | HOW WOULD I APPROACH IT? Authors present an interesting case of a 10-year-old with a familial history of Rendu-Osler-Weber disease. The patient shows signs of cyanosis, polyglobulia, and baseline oxygen saturation levels of 85% due to a large and complex pulmonary arteriovenous malformation (PAVM) that is causing systemic desaturation due to the existence of a significant right-to-left shunt. PAVMs are direct connections between arterial branches—often the pulmonary artery—and pulmonary veins without a normal capillary bed connected through an aneurysmal sac that can be partially septated in the inside. PAVMs can be categorized into simple, when they receive blood from a single afferent arterial vessel, and complex, when afference is multiple. Most of them are congenital and in over 70% of the cases they are associated with Rendu-Osler-Weber disease or hereditary hemorrhagic telangiectasia. Although it is a dominant autosomal disease that can be diagnosed through a genetic study the so-called Curaçao diagnostic criteria1 are often used to achieve diagnosis: Recurrent epistaxis. Multiple telangiectasias in typical locations: lips, oral cavity, fingers, and nose. Visceral vascular malformations: gastrointestinal, pulmonary, hepatic, cerebral or spinal. First-degree relative who is a disease carrier. With 3 or more criteria, the diagnosis becomes conclusive. With just 2 the diagnosis is possible. Most of the times this disease...
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