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https://doi.org/10.14300/mnnc.2023.18021

Modern ideas about the etiology and pathogenesis of hereditary hemorrhagic telangiectasia

[Reviews]
Azamat Kade; Pavel Pavlovich Polyakov; Sergey Aleksandrovich Zanin; Ekaterina Sergeevna Zanina;

This paper is a narrative review of the literature on the etiology and pathogenesis of hereditary hemorrhagic telangiectasia (Osler – Rendu – Weber disease). We describe the genetics, forms of the disease, the physiological role of the signal pathway of transduction of transforming growth factor-β, the consequences of haplon-sufficiency of causative genes eng, alk1, madh4 (dysfunction of platelet growth factors B, disorders of mechanotransduction, adhesion, involvement of mural cells, dissociation of NO-synthase, hyperproduction of reactive oxygen species) and possible mechanisms of development of characteristic vascular defects with positions of the hypothesis of «multiple-hit» (possible somatic loss of heterozygosity, inflammation, hyperfunction of vascular endothelial growth factor).

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Keywords: hereditary hemorrhagic telangiectasia, transforming growth factor-β, endoglin, multiple-hit hypothesis