Clinical and genetic parallels of the classification and diagnosis of Ehlers-Danlos syndrome

2021 ◽  
pp. 14-26
Author(s):  
Д.Д. Надыршина ◽  
А.В. Тюрин ◽  
Э.К. Хуснутдинова ◽  
Р.И. Хусаинова
Keyword(s):  
Genetic Counseling ◽  
Family Medicine ◽  
Genetic Basis ◽  
Molecular Genetic ◽  
Hereditary Disease ◽  
Orphan Diseases ◽  
Ehlers Danlos Syndrome ◽  
General Medical Practice ◽  
Molecular Genetic Basis ◽  
Danlos Syndrome

Статья посвящена обсуждению подходов к классификации и обзору доступных литературных данных о клинической вариабельности и молекулярно-генетических основах патогенеза редкого наследственного заболевания - синдрома Элерса-Данло. Представленный обзор расширит представление о патогенезе и позволит оптимизировать диагностику данного синдрома, определить тактику лечения и медико-генетического консультирования отягощенных семей как клиническим генетикам, специалистам в области изучения орфанных заболеваний, так и врачам терапевтам, специалистам семейной медицины и общей врачебной практики. The article is devoted to the discussion of approaches to the classification and review of the available literature data on clinical variability and the molecular genetic basis of the pathogenesis of a rare hereditary disease - Ehlers-Danlos syndrome. The presented review will expand the understanding of the pathogenesis and allow to optimize the diagnosis of this syndrome, to determine the tactics of treatment and medical and genetic counseling of burdened families, both to clinical geneticists, specialists in the study of orphan diseases, and to general practitioners, specialists in family medicine and general medical practice.

THE CLASSIC TYPE OF EHLERS–DANLOS SYNDROME: DIFFERENTIAL DIAGNOSIS AND PECULIARITIES OF PATIENT MANAGEMENT

2021 ◽  
Vol 100 (5) ◽  
pp. 62-69
Author(s):  
А.N. Semyachkina ◽  
◽  
E.А. Nikolaeva ◽  
А.R. Zabrodina ◽  
L.P. Melikyan ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Adult Population ◽  
Gene Mutations ◽  
Hereditary Disease ◽  
Ehlers Danlos Syndrome ◽  
Severe Pathology ◽  
Type V ◽  
Danlos Syndrome

The Classic Ehlers–Danlos syndrome (cEDS) is an autosomal dominant hereditary disease caused by type V collagen defect. The incidence of pathology is estimated at 1:20,000 of the population. The results of a long-term (15 years) follow-up of a group of patients (n=18) with cEDS, including 5 boys and 13 girls aged from 3 to 18 years, are presented. The diagnosis was made based on the presence of 2 large and 5 small international diagnostic criteria in all patients. The progreduated character of the disease is shown, which is most obvious in the dynamics of the state of the musculoskeletal system. Genetic verification of the diagnosis was performed in 6 patients; 5 probands had mutations in the COL5A1 gene, and one in the COL5A2 gene. Mutations already registered in the database were detected only in 2 children. Previously unknown substitutions were found in 4 patients. The article presents the issues of differential diagnosis of this severe pathology and touches upon the issue of continuity between medical pediatric specialists and doctors of various specialties working with the adult population.

scholarly journals Ehlers–Danlos syndrome: how to diagnose and when to perform genetic tests

2014 ◽  
Vol 100 (1) ◽  
pp. 57-61 ◽  
Author(s):  
Glenda Sobey
Keyword(s):  
Genetic Basis ◽  
Correct Diagnosis ◽  
Clinical Signs ◽  
Accurate Diagnosis ◽  
Connective Tissue Disorders ◽  
Internal Organs ◽  
Ehlers Danlos Syndrome ◽  
Starting Point ◽  
Life Threatening ◽  
Danlos Syndrome

The term Ehlers–Danlos syndrome (EDS) encompasses a group of inherited connective tissue disorders. The manifestations of EDS can be seen in skin, joints, blood vessels and internal organs and vary from mild to severe and life threatening. Each subtype is a separate and different condition. The genetic basis of many subtypes has now been elucidated, confirming heterogeneity. An awareness of the different conditions within this group is the starting point towards accurate diagnosis. Accurate elicitation of history and clinical signs is vital in selecting the correct confirmatory investigation. Skin biopsy with electron microscopy can be helpful in the decision process of whether and when to perform genetic testing. Correct diagnosis within the EDSs allows targeted management, family screening and prenatal diagnosis.

scholarly journals The Molecular-Genetic Basis of Functional Hyperandrogenism and the Polycystic Ovary Syndrome

2005 ◽  
Vol 26 (2) ◽  
pp. 251-282 ◽  
Author(s):  
Héctor F. Escobar-Morreale ◽  
Manuel Luque-Ramírez ◽  
José L. San Millán
Keyword(s):  
Environmental Factors ◽  
Polycystic Ovary Syndrome ◽  
Diagnostic Criteria ◽  
Genetic Basis ◽  
Polycystic Ovary ◽  
Molecular Genetic ◽  
Ovary Syndrome ◽  
The Metabolic Syndrome ◽  
Molecular Genetic Basis ◽  
Functional Hyperandrogenism

The genetic mechanisms underlying functional hyperandrogenism and the polycystic ovary syndrome (PCOS) remain largely unknown. Given the large number of genetic variants found in association with these disorders, the emerging picture is that of a complex multigenic trait in which environmental influences play an important role in the expression of the hyperandrogenic phenotype. Among others, genomic variants in genes related to the regulation of androgen biosynthesis and function, insulin resistance, and the metabolic syndrome, and proinflammatory genotypes may be involved in the genetic predisposition to functional hyperandrogenism and PCOS. The elucidation of the molecular genetic basis of these disorders has been burdened by the heterogeneity in the diagnostic criteria used to define PCOS, the limited sample size of the studies conducted to date, and the lack of precision in the identification of ethnic and environmental factors that trigger the development of hyperandrogenic disorders. Progress in this area requires adequately sized multicenter collaborative studies after standardization of the diagnostic criteria used to classify hyperandrogenic patients, in whom modifying environmental factors such as ethnicity, diet, and lifestyle are identified with precision. In addition to classic molecular genetic techniques such as linkage analysis in the form of a whole-genome scan and large case-control studies, promising genomic and proteomic approaches will be paramount to our understanding of the pathogenesis of functional hyperandrogenism and PCOS, allowing a more precise prevention, diagnosis, and treatment of these prevalent disorders.

scholarly journals A Molecular Genetic Basis Explaining Altered Bacterial Behavior in Space

PLoS ONE ◽  
2016 ◽  
Vol 11 (11) ◽  
pp. e0164359 ◽  
Author(s):  
Luis Zea ◽  
Nripesh Prasad ◽  
Shawn E. Levy ◽  
Louis Stodieck ◽  
Angela Jones ◽  
...  
Keyword(s):  
Genetic Basis ◽  
Molecular Genetic ◽  
Molecular Genetic Basis

scholarly journals Geno-phenotypic characteristics of Ehlers–Danlos syndrome: difficulties of disease type identification and approaches to pathogenetic treatment

2021 ◽  
Vol 66 (1) ◽  
pp. 22-30
Author(s):  
E. A. Nikolaeva ◽  
A. N. Semyachkina
Keyword(s):  
Connective Tissue ◽  
Clinical Symptoms ◽  
Molecular Genetic ◽  
Symptomatic Treatment ◽  
Pathological Process ◽  
Social Adaptation ◽  
Molecular Defect ◽  
Ehlers Danlos Syndrome ◽  
Pathogenetic Therapy ◽  
Danlos Syndrome

Veltischev Researchand Clinical Institutefor Pediatricsofthe Pirogov Russian National Research Medical University, Moscow, Russia The article presents modern data on the most common monogenic connective tissue disease – Ehlers–Danlos syndrome. The authors describe two previous classifications of the syndrome: Berlin (1988) classification, which distinguishes 11 types of the disease, and Beyton (1998) classification, which includes 6 types of the syndrome and takes into account the results of molecular genetic studies. Particular attention is paid to a new classification, proposed by the International Consortium in 2017. This classification is based on the clinical and molecular genetic data and unites 13 types of Ehlers–Danlos syndrome, divided in 7 groups (A–G), depending on the main molecular defect. This defect determines the violation of various collagen structures (primary, spatial, cross-linking) and others constituents of the connective tissue (myomatrix, glycosaminoglycans, complement component, etc.). The classification provides general clinical symptoms for all types of the disease and comprehensive information on the specific signs of each of the 13 types of the syndrome.The authors discuss approaches to the pathogenetic therapy of the syndrome, the possibilities of symptomatic treatment, including both medications of different spectrum of action, and physiotherapeutic measures, exercise therapy. The complex of the listed therapeutic measures is aimed at stabilizing the main pathological process, preventing complications, improving the patient’s quality of life and social adaptation. The authors emphasize that correct patient management, targeted medical supervision and medical genetic counseling requires molecular genetic verification of the diagnosis.

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