Modern criteria of diagnosis of the main dysplasia phenotypes (Marfan and Chernogubov-Ehlers-Danlos syndromes): sufficiency and applicability to medical practice

Abstract

Chernogubov-Ehlers-Danlos and Marfan syndromes are among the most prevalent disorders of connective tissue, and health care providers of various specialties may deal with such patients. The agreed diagnostic criteria have been devised for these diseases and they should be used for conducting a thorough medical examination. The article refers to some difficulties associated with the application of these criteria to clinical practice. As a result, in Russian-language literature the patients with these syndromes are formally excluded from the research, and in this context a term "non-differentiated connective tissue dysplasia" is commonly used. As noted, multisystem dysplasia disorders with the involvement of different organs that occur in patients with monogenic syndromes are not fully reflected in the modern diagnostic criteria. At the same time a delayed diagnosis may lead to the absence of alert about the conditions that potentially complicate the course of physiological processes (e.g. pregnancy) or even cause lethal outcomes. The authors emphasize the need for developing intellectual technologies to support physician's decisions that are focused on a broader and timely diagnosis of monogenic syndrome as they will help to improve the quality of medical care. KEYWORDS: Marfan syndrome, Chernogubov-Ehlers-Danlos syndrome, dysplasia of connective tissue, dysplasia phenotype, dural ectasia, Ghent criteria, Villefranche criteria. FOR CITATION: Viktorova I.A., Ivanova D.S., Poltavtseva A.M. et al. Modern criteria of diagnosis of the main dysplasia phenotypes (Marfan and Chernogubov-Ehlers-Danlos syndromes): sufficiency and applicability to medical practice. Russian Medical Inquiry. 2023;7(3):144–149 (in Russ.). DOI: 10.32364/2587-6821-2023-7-3-144-149.