An update on the new classification of Ehlers‐Danlos syndrome and review of the causes of bleeding in this population

Haemophilia ◽  
2019 ◽  
Author(s):  
Rohith Jesudas ◽  
Ateefa Chaudhury ◽  
Christina M. Laukaitis
Keyword(s):  
New Classification ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Common Maternal Genetic Syndromes III: Ehlers-Danlos Syndrome

2020 ◽  
Author(s):  
Alex C. Vidaeff
Keyword(s):  
Genetic Screening ◽  
Perinatal Complications ◽  
Genetic Syndromes ◽  
New Classification ◽  
Ehlers Danlos Syndrome ◽  
Risk Pregnancy ◽  
Pregnancy And Delivery ◽  
Obstetric Management ◽  
Danlos Syndrome

The purpose of this work is to improve the basis upon which advice on pregnancy is given to women with Ehlers-Danlos syndrome (EDS) and to address issues of obstetric management by drawing upon the accumulated world experience. Although, overall, pregnancy in EDS is well tolerated, with good outcomes, the rate of maternal and perinatal complications is higher and every pregnancy in these women remains a high-risk pregnancy. The obstetrical outcomes are influenced by the type of EDS and the specific underlying abnormalities. The older numeric classification of EDS has been largely abandoned and it was replaced by the 2017 descriptive international classification. Based on this new classification, we are briefly describing the most common EDS types and consider the management implications imposed by pregnancy and delivery.   This review contains 2 figures, 1 table, and 36 references. Keywords: Ehlers-Danlos syndrome, EDS types, pregnancy, delivery, EDS classification, counseling, genetic screening, neonatal outcomes 

The Ehlers–Danlos Syndromes

2020 ◽  
pp. 26-29
Author(s):  
Bernadette Riley
Keyword(s):  
Clinical Diagnosis ◽  
Family Physician ◽  
Classification System ◽  
Genetic Basis ◽  
International Classification ◽  
Ehlers Danlos Syndrome ◽  
Diagnosis Criteria ◽  
Danlos Syndrome

An Osteopathic Family Physician will encounter hypermobile patients. Hypermobility is a symptom of many of the subtypes of the Ehlers Danlos Syndromes (EDS). With the updated classification system (the 2017 International Classification of the Ehlers-Danlos Syndromes) it is important for the osteopathic family physician to become familiar with the EDS patient. The classification system identifies 13 subtypes of EDS.1 Of these 13, 12 have a recognized genetic basis. Hypermobile EDS (hEDS) has a clinical diagnosis criteria checklist (Figure 1, page 29). There is opportunity for the osteopathic family physician community to help diagnose and treat the EDS population. This article seeks to have the osteopathic family physician become familiar with the Ehlers-Danlos Syndrome, and provide an overview of all of the subtypes of EDS, including hEDS and discusses signs, symptoms, and risks associated with the syndrome.

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 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 Az Ehlers–Danlos-szindrómák korszerű osztályozása és multidiszciplináris tünettana

2019 ◽  
Vol 160 (16) ◽  
pp. 603-612
Author(s):  
Fanni Virág Ralovich ◽  
Norbert Kiss ◽  
Krisztina Horváth ◽  
Sarolta Kárpáti ◽  
Márta Medvecz
Keyword(s):  
Clinical Care ◽  
Joint Hypermobility ◽  
Point Of View ◽  
Clinical Aspects ◽  
The Novel ◽  
Ehlers Danlos Syndrome ◽  
Large Populations ◽  
Leading Symptom ◽  
Danlos Syndrome

Abstract: In this review article, the authors summarize the clinical aspects of the novel classification of Ehlers–Danlos syndrome, which is a group of rare, hereditary connective tissue disorders. The leading symptom of the Ehlers–Danlos syndrome group is joint hypermobility, skin hyperextensibility and generalized tissue fragility. Ehlers–Danlos syndrome displays a high clinical and genetic heterogeneity and harbors many multidisciplinary properties. Certain subtypes only affect the quality of life, while other forms may lead to severe, even fatal vascular or intestinal complications. Last year, based on the data of various international genotype-phenotype correlation studies of large populations, a new classification of the syndrome’s clinical subtypes was introduced. The novel international nosology of Ehlers–Danlos syndromes published in 2017 delineates 13 clinical subtypes, describes their genetic background and defines major and minor diagnostic criteria for each subtype. We gathered the complex, multidisciplinary symptoms of Ehlers–Danlos syndromes in a table to assist the diagnosis from a differential diagnostic point of view. In the clinical practice, the proper diagnosis of patients affected by the Ehlers–Danlos syndrome group is essential to give optimal clinical care and to prevent the development of severe complications. Orv Hetil. 2019; 160(16): 603–612.

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.

Incidence of Thoracic Outlet Syndrome in Patients With Postural Orthostatic Tachycardia Syndrome

2019 ◽  
Vol 43 (4) ◽  
pp. 171-176
Author(s):  
Arathi Prabha Kumar ◽  
Christelle Edixon Ang ◽  
Bandi Naga Rishitha ◽  
Vishak Kumar ◽  
Amer Suleman
Keyword(s):  
Thoracic Outlet Syndrome ◽  
Imaging Modality ◽  
Sensory Loss ◽  
Postural Orthostatic Tachycardia Syndrome ◽  
Symptom Duration ◽  
Neurovascular Compression ◽  
Ehlers Danlos Syndrome ◽  
Venous Compression ◽  
Danlos Syndrome

Thoracic outlet syndrome (TOS) refers to a constellation of symptoms resulting from neurovascular compression at the thoracic outlet, causing some combination of pain in the neck and upper extremity, weakness, sensory loss, paresthesia, swelling, and discoloration. Classification of TOS would depend on the anatomical structure that is compressed: venous TOS (VTOS)—compression of Subclavian vein; arterial TOS (ATOS)—compression of subclavian artery; and neurogenic TOS (NTOS)—compression of brachial plexus. Postural Orthostatic Tachycardia Syndrome (POTS) is characterized by orthostatic tachycardia that develops in the absence of orthostatic hypotension, with a symptom duration of >6 months. POTS is now known to be commonly associated with Ehlers-Danlos Syndrome (EDS), thereby raising speculation about the extent of prevalence of TOS symptoms in EDS patients. The aim of the study was to quantify the influx of patients with POTS, reporting symptoms of arm fatigue with or without numbness and tingling. The symptoms were quantified initially by conducting postural maneuvers that would reproduce the symptoms, to rule-in the possibility of TOS and further confirmed by using ultrasonography in upper limbs as the imaging modality of choice to evaluate arterial and/or venous compression. This study also looks at the presence of a concurrent diagnosis of EDS among the symptomatic patients who test positive for TOS.

scholarly journals Genetic testing for vascular Ehlers-Danlos syndrome and other variants with fragility of the middle arteries

2018 ◽  
Vol 2 (s1) ◽  
pp. 42-44
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Alice Bruson ◽  
Marco Castori ◽  
Tommaso Beccari ◽  
...  
Keyword(s):  
Extracellular Matrix ◽  
Clinical Trials ◽  
Vascular Involvement ◽  
Molecular Testing ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Recurrent Mutations ◽  
Gene Test ◽  
Danlos Syndrome

Abstract Ehlers-Danlos syndrome (EDS) is an umbrella term for various inherited connective tissue disorders associated with mutations in genes involved in extracellular matrix formation. “The 2017 International Classification of Ehlers-Danlos Syndromes and related disorders” identifies 13 clinical types with mutations in 19 distinct genes. The present module focuses on forms with major vascular involvement: vascular EDS (vEDS) caused by heterozygous mutations in COL3A1, “vascular-like” EDS (vlEDS) caused by recurrent mutations in COL1A1, classical EDS with vascular fragility associated with heterozygous mutations in COL5A1, and kyphoscoliotic EDS associated with recessive variations in PLOD1 and FKBP14. The overall prevalence of EDS is estimated between 1/10,000 and 1/25,000 and vEDS accounts for about 5 to 10% of all EDS cases. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. Molecular testing is useful for diagnosis confirmation, as well as differential diagnosis, appropriate genetic counselling and access to clinical trials.

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