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Pregnancy in patient with hereditary hemorrhagic telangietasia (osler-weber-rendu disease) and pulmonary arteriovenous malformations: case report

Hereditary hemorrhagic telangictasia, also known as Osler-WeberRendu disease is autosomal dominant disorder that affects blood vessels throughout the body (causing vascular dysplasia) and results in a tendency for bleeding. There are mutations in the endoglin gene in chromosome 9 or the activin receptor like kinase type I gene in chromosome 12, which affect receptors for the transforming growth factor-beta in vascular endothelium. It manifested by mucocutaneous telangiectasia and arteriovenous malformations. Lesions can affect the nasopharynx, central nervous system, lung, liver, and spleen, as well as the urinary tract, gastrointestinal tract, conjunctiva, trunk, arms, and fingers. Arteriovenous malformation in lungs (pulmonary arteriovenous malformationsPAVM) lead to directly shunting the blood from right to left not passing through capillary. Therefore such patients may develop the symptoms of hypoxemia. During the pregnancy due to the hormonal and hemodynamic changes bleeding and pulmonary symptoms become more severe, sometimes leading to lifetreating complications.1−4