Syndromе associated with multiple venous malformations (Bean syndrome)

Abstract

Blue rubber bleb nevus syndrome (BRBNS) also called Bean's syndrome is a rare disorder characterized by mucocutaneous angiomatose multiple cutaneous venous malformations. Pathogenesis of the BRBNS is caused by the somatic mutations in angiopoietin receptor gene TEK. These mutations cause ligand-independent activation of the tyrosine kinase receptor and the PI3K / AKT pathway and involve the mTOR in the pathological process in a specific way. There are no universally effective methods for treating systemic forms of vascular malformations currently. However, recent numerous reports have shown the advantages of rapamycin, an mTOR inhibitor, as a well-tolerated and effective therapy in patients with vascular abnormalities, in particular with diffuse angiomatose. This article presents a clinical case of a 5-years old patient with a diagnosis of iron deficiency anemia, who has been treated for a long time and received iron supplements therapy without achieving any effect. The diagnosis of Bean's syndrome was established after 5 years from the first clinical manifestation and based on clinical, laboratory and instrumental methods. The cause of iron deficiency anemia was established. It was repeated chronic bleedings from multiple sites of the gastrointestinal mucosa vessels. Prescribed rapamycin therapy allowed to contain gastrointestinal bleeding, to reduce the size of vascular lesions and to prevent the formation of new ones. Parents gave their consent to use information about the child in the article.