scholarly journals New principles of diagnosis and classification of the Ehlers-Danlos syndrome

2018 ◽  
Vol 9 (1) ◽  
pp. 118-125
Author(s):  
Vadim G. Arsentev ◽  
Tamara I. Kadurina ◽  
Larisa N. Abbakumova
Keyword(s):  
Connective Tissue ◽  
Diagnostic Criteria ◽  
Clinical Picture ◽  
Clinical Signs ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Dominant Type ◽  
Monogenic Diseases ◽  
Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of monogenic diseases caused by a violation of collagen metabolism, the structure and function of myomatrix and the synthesis of proteoglycans. This pathology is characteri zed by hyperelasticity of the skin, subcutaneous globules, overextension of the joints, tissue vulnerability and hemorrhagic syndrome. EDS is one of the seven hereditary connective tissue disorders for which international diagnostic criteria are met. More than 30 years ago, the so-called Berlin nosology of hereditary connective tissue disorders was first compiled and approved (1986). For a long time, doctors used the “Villefranche Nosology” classification of EDS, adopted in 1998 and divided the disease into 6 types. The new criteria were published by the International Committee of Experts in 2017. In the clinical classification of EDS, 13 types with different inheritance, clinical features and biochemical defects are described. In most cases, it is inherited by an autosomal dominant type. True prevalence is unknown due to the complexity of verification and a large number of light forms, the frequency of diagnosed cases is 1 : 5000 births, severe forms are rare (1 : 100 000). Diagnosis of this syndromeis also based on the diagnostic criteria of the international classification. The lecture presents new data on classification diagnostic criteria of EDS, polymorphism of the clinical picture, genetic heterogeneity, the main principles of treatment of the disease. The new classification criteria take into account, in the main, the features of the clinical picture, they did not simplify the diagnosis, but they increased the specificity and increased the significance of the clinical and anamnestic features. The scope of the examination is determined by the presence of leading clinical signs. The genealogical examination and molecular genetic methods of diagnostics are of great importance.

scholarly journals Hereditary Connective Tissue Diseases in Young Adult Stroke: A Comprehensive Synthesis

2011 ◽  
Vol 2011 ◽  
pp. 1-18 ◽  
Author(s):  
Olivier M. Vanakker ◽  
Dimitri Hemelsoet ◽  
Anne De Paepe
Keyword(s):  
Connective Tissue ◽  
Metabolic Disorders ◽  
Type Iv Collagen ◽  
Connective Tissue Diseases ◽  
Haemorrhagic Stroke ◽  
Monogenic Disease ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Danlos Syndrome

Though the genetic background of ischaemic and haemorrhagic stroke is often polygenetic or multifactorial, it can in some cases result from a monogenic disease, particularly in young adults. Besides arteriopathies and metabolic disorders, several connective tissue diseases can present with stroke. While some of these diseases have been recognized for decades as causes of stroke, such as the vascular Ehlers-Danlos syndrome, others only recently came to attention as being involved in stroke pathogenesis, such as those related to Type IV collagen. This paper discusses each of these connective tissue disorders and their relation with stroke briefly, emphasizing the main clinical features which can lead to their diagnosis.

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 Revisiting the question of cutaneous vasculitis classification

2021 ◽  
Vol 97 (4) ◽  
pp. 48-59
Author(s):  
Alexey V. Samtsov ◽  
Vladislav R. Khairutdinov ◽  
Evgeny V. Sokolovskiy ◽  
Muza M. Kokhan ◽  
Irena E. Belousova ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Clinical Picture ◽  
Integrated Assessment ◽  
Clinical Signs ◽  
Cutaneous Vasculitis ◽  
Vascular Lesions ◽  
Instrumental Methods

Currently, there is no generally accepted terminology and classification of vasculitis and vascular cutaneous disorders. In Russia there are various approaches to the classification of cutaneous vasculitis vascular lesions are classified according to clinical signs, etiology and pathogenesis. Significant difficulties are caused by the lack of a unified terminology, clear diagnostic criteria for vasculitis and the existence of a large number of duplicate names, among which there are many eponymous terms. This issue is one of the most complex, confusing and debatable not only in dermatovenereology, but also in other disciplines. Modern principles of diagnosis of cutaneous vasculitis are based on an integrated assessment of the data of the disease history, clinical picture, laboratory and instrumental methods of examination. For standardization of definitions and diagnostic criteria, it is necessary, first of all, to adopt a unified interdisciplinary classification of vasculitis, which will be based on the etiopathogenetic principle. The applied unified classification of cutaneous vasculitis is proposed for discussion.

scholarly journals Respiratory Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review

2021 ◽  
Vol 7 (2) ◽  
pp. 1-7
Author(s):  
Christina Parducci ◽  
Keyword(s):  
Systematic Review ◽  
Connective Tissue ◽  
Connective Tissue Disorders ◽  
Respiratory Complications ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

The Ehlers-Danlos Syndromes (EDS) are genetic connective tissue disorders that are currently categorized into 14 subtypes. Symptoms of each subtype overlap, with some distinct manifestations

Hereditary disorders of connective tissue

2018 ◽  
pp. 577-594
Author(s):  
Gavin Clunie ◽  
Nick Wilkinson ◽  
Elena Nikiphorou ◽  
Deepak R. Jadon
Keyword(s):  
Connective Tissue ◽  
Osteogenesis Imperfecta ◽  
Marfan Syndrome ◽  
Genetic Information ◽  
Hereditary Diseases ◽  
Ehlers Danlos Syndrome ◽  
Hereditary Disorders ◽  
Spectrum Disorders ◽  
Danlos Syndrome

The Oxford Handbook of Rheumatology, 4th edition, includes a chapter on the hereditary diseases of connective tissue. Of importance, up-to-date genetic information and classification of subtypes of osteogenesis imperfecta is reviewed. There is a summary of a broad range of diseases of connective tissue including Marfan syndrome, Stickler disease, and arthrogryposis—conditions encountered occasionally by the rheumatologist. The chapter details the new 2017 criteria for Ehlers–Danlos syndrome and outlines the new classification for the hypermobility spectrum disorders and the distinction between generalized, localized, and regional hypermobility and hypermobility Ehlers–Danlos syndrome, both in adults and in children.

scholarly journals Spontaneous Diaphragmatic Rupture in Hypermobile Type Ehlers-Danlos Syndrome

2017 ◽  
Vol 2017 ◽  
pp. 1-3 ◽  
Author(s):  
Ruchi Amin ◽  
Brett H. Waibel
Keyword(s):  
Connective Tissue ◽  
Surgical Intervention ◽  
Clinical Manifestations ◽  
Acute Onset ◽  
Diaphragmatic Rupture ◽  
Shortness Of Breath ◽  
Significant Morbidity ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Ehlers-Danlos Syndrome refers to a spectrum of connective tissue disorders that have a variety of clinical manifestations. In this case, we present a spontaneous diaphragmatic rupture in a patient with type III Ehlers-Danlos Syndrome. The patient presented with worsening shortness of breath after failure of medical therapy for a presumed pneumonia. A CT scan was obtained which showed diaphragmatic rupture with splenic herniation which was repaired in the operating room via thoracotomy. It is important to include diaphragmatic rupture in the differential diagnosis for patients with connective tissue disease and acute onset tachypnea and pain, as this complication has the potential for significant morbidity without prompt surgical intervention.

scholarly journals Surgical-orthodontic treatment in patients with Ehlers–Danlos syndrome: a report of two familial cases

2020 ◽  
Vol 26 (1) ◽  
pp. 5
Author(s):  
Hippolyte Chapuis ◽  
Arnaud Peyrolade ◽  
Ahmed Féki ◽  
François Clauss ◽  
Fabien Bornert
Keyword(s):  
Orthodontic Treatment ◽  
Clinical Symptoms ◽  
Genetic Mutation ◽  
Therapeutic Approaches ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Familial Form ◽  
Danlos Syndrome

Introduction: Ehlers–Danlos syndromes (EDS) are a group of rare inherited connective tissue disorders that affect the synthesis and structure of collagen in a ubiquitous manner. The clinical presentation can vary according to the associated genetic mutation. The 2017 international classification of EDS describes 13 types of EDS. Observation: The first part of this paper describes the surgical-orthodontic treatment for two sisters affected by a common and familial form of EDS, with a follow-up period of 8 years. The main symptoms were agenesis, impacted teeth, and delayed eruptions. Discussion: The second part proposes a review of oro-dental manifestations and discusses therapeutic approaches for patients with EDS. Conclusion: EDS can affect the oro-dental region with numerous consequences. Recognition of clinical symptoms and radiological signs is essential to provide appropriate dental care. Moreover, complete clinical and radiological assessment can allow early diagnosis of EDS.

scholarly journals Ehlers-Danlos Syndrome (EDS) : A Common and often Disregarded Cause of Serious Gastrointestinal Complications in Children and Adults

2021 ◽  
Vol 9 (8) ◽  
Author(s):  
Claude Hamonet ◽  
Mickael Delarue ◽  
Jeremie Lefevre ◽  
Jacques Rottembourg ◽  
Jean-David Zeitoun
Keyword(s):  
Connective Tissue ◽  
Clinical Signs ◽  
Hereditary Disease ◽  
Clinical Expression ◽  
Ehlers Danlos Syndrome ◽  
Gastrointestinal Complications ◽  
Know How ◽  
The Family ◽  
Gastric Reflux ◽  
Danlos Syndrome

Ehlers-Danlos is a hereditary disease of the whole connective tissue initially described by dermatologists (Tscherchnogobov Moscow 1892, Ehlers, Copenhagen, 1900, Danlos, Paris, 1908). They emphasized the joint hyperlaxity and stretchiness of the skin which has long summed up the clinical expression of this entity. In recent decades, many other manifestations have been described and gradually identified, mainly by rheumatologists (Grahame, London, 1960). Several of them concern the digestive tract, mainly gastric reflux and constipation. They can be the cause of serious accidents: bronchial flooding by gastric reflux or aspiration, intestinal obstruction, hernial constriction, eventration, intestinal rupture, peritonitis of vesicular or appendicular origin, hemorrhages. It is important that gastroenterologists know how to link these manifestations to their etiology in order to adapt treatments, prevent iatrogenic accidents and direct the patients towards the treatment of other manifestations of Ehlers-Danlos disease. Nine clinical signs, including digestive manifestations, allow diagnosis by their significant grouping. The proof of hereditary origin is based on the identification of other identical cases in the family,, even if they are paucisymptomatic. A person affected by the disease systematically transmits the disease to all his children. We have verified this in all our patients.

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