Annals of Clinical and Experimental NeurologyAnnals of Clinical and Experimental NeurologyАнналы клинической и экспериментальной неврологии2075-54732409-2533Eco-Vector2010.17816/psaic20ReviewsОбзорыUnknownThe vascular type of Ehlers–Danlos syndromeСосудистый тип синдрома Элерса–ДанлоGubanovaMaria V.ГубановаМария Владимировна
Russian Federation
dobrla@mail.ruhttps://orcid.org/0000-0001-9929-2725DobryninaLarisa A.ДобрынинаЛариса Анатольевна
Russian Federation

D. Sci. (Med.), Head, 3rd Neurology department

д.м.н., г.н.с., рук. 3-го неврологического отделения

dobrla@mail.ruKalashnikovaLyudmila A.КалашниковаЛюдмила Андреевна
Russian Federation
dobrla@mail.ruResearch Center of NeurologyФГБНУ «Научный центр неврологии»02122016104455130012017Copyright ©; 2016, Gubanova M.V., Dobrynina L.A., Kalashnikova L.A.Copyright ©; 2016, Gubanova M.V., Dobrynina L.A., Kalashnikova L.A.2016Gubanova M.V., Dobrynina L.A., Kalashnikova L.A.Gubanova M.V., Dobrynina L.A., Kalashnikova L.A.https://creativecommons.org/licenses/by/4.0https://annaly-nevrologii.com/pathID/article/view/20

Ehlers–Danlos syndrome (EDS) type IV (vascular type of EDS) is a rare inherited autosomal dominant connective-tissue disorder caused by a mutation in the procollagen III gene (the COL3A1 gene). Patients with this syndrome are prone to rupture of arteries and hollow body organs. Among all types of EDS, type IV involves ~5–10% of cases. Vascular complications may develop in any anatomical region; large and medium-sized arteries are affected most frequently. Typical complications include dissection of the vertebral and carotid arteries at the extra- and intracranial levels, carotid-cavernous fistulas, and aneurysms. The diagnosis is based on major and minor clinical criteria and can be confirmed by laboratory tests: by detecting a quantitative and qualitative disruption of type III collagen synthesis by fibroblast culture or identifying the mutation in the COL3A1 gene. Invasive diagnostic techniques and surgical intervention should be used in case of life-threatening complications. Today, there is no specific technique for treating EDS. Our findings demonstrate that vascular complications in patients with EDS type IV were reduced by using β-blocker celiprolol. Inhibitors of the renin–angiotensin system and the agents lowering the concentration of transforming growth factor-beta open up new prospects for conservative treatment of this pathology and improve the future outlook.

Синдром Элерса–Данло (СЭД) IV (сосудистого) типа – редкое наследственное аутосомно-доминантное заболевание соединительной ткани, возникающее в результате мутации в гене проколлагена-III (COL3A1). Пациенты с этим синдромом склонны к разрывам артерий и полых органов. Среди всех вариантов СЭД IV тип составляет примерно от 5 до 10% случаев. Сосудистые осложнения могут проявиться во всех анатомических областях, с тенденцией к поражению артерий крупного и среднего диаметра. Типичными осложнениями являются: диссекция позвоночных и сонных артерии на экстра- и интракраниальном уровнях, каротидно-кавернозная фистула, аневризма. Диагноз ставится на основании больших и малых клинических критериев и может быть подтвержден лабораторно – выявлением количественного или качественного нарушения синтеза коллагена III типа культивируемыми фибробластами или идентификацией мутации в гене COL3A1. К инвазивным методам диагностики и хирургическим вмешательствам следует прибегать в случаях возникновения потенциально опасных для жизни осложнений. В настоящее время не существует специфического лечения СЭД. Результаты исследования с использованием β-блокатора целипролола продемонстрировали снижение сосудистых осложнений при СЭД IV типа. Ингибиторы ренин-ангиотензиновой системы и средства, уменьшающие концентрацию трансформирующего фактора роста-β, открывают новые перспективы консервативного лечения данной патологии и улучшают прогноз на ближайшее будущее.

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