A review of Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) describes a group of heritable disorders of connective tissue comprising mutations in the genes involved in the structure and/or biosynthesis of collagen. Thirteen EDS subtypes are recognized, with a wide degree of symptom overlap among subtypes and with other connective tissue disorders. The clinical hallmarks of EDS are tissue fragility, joint hypermobility, and skin hyperextensibility. Appropriate diagnosis of EDS is important for correct multidisciplinary management and is associated with better clinical outcomes for patients.
Source: Journal of the American Academy of Physician Assistants - Category: Primary Care Tags: CME: Inherited Disorders Source Type: research

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Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant hereditary collagen disease caused by a defect or deficiency in the pro- α1 chain of type III procollagen encoded by the COL3A1 gene. Patients...
Source: BMC Pulmonary Medicine - Category: Respiratory Medicine Authors: Tags: Case report Source Type: research
This study confirms the high rate and heterogeneity of abnormal autonomic regulation in hEDS/HSD, and suggests the baroreflex sensitivity might distinguish comorbid POTS from other profiles in this subgroup of patients. Abnormal autonomic regulation is common in adults with hEDS/HSD and should be regularly assessed for tailoring the management approach. PMID: 32434316 [PubMed - in process]
Source: Monaldi Archives for Chest Disease - Category: Respiratory Medicine Tags: Monaldi Arch Chest Dis Source Type: research
Abstract OBJECTIVES: Marfan syndrome and Ehlers-Danlos syndrome represent two connective tissue vascular diseases requiring unique consideration in their vascular surgical care. A comprehensive national review encompassing all hospitalizations for the Marfan Syndrome and Ehlers-Danlos syndrome patient population is lacking. METHODS: The National (Nationwide) Inpatient Sample from 2010 to 2014 was reviewed for all inpatient vascular surgery procedures including those with a diagnosis of Marfan syndrome and Ehlers-Danlos syndrome. National estimates of vascular surgery rates were generated from provided weights...
Source: Vascular - Category: Surgery Authors: Tags: Vascular Source Type: research
Publication date: Available online 15 May 2020Source: European Journal of Obstetrics &Gynecology and Reproductive BiologyAuthor(s): Neekita Pradhan, Jyothi Shilawant, Akkamahadevi C. Hiremath, Shivakumar K.S, Sundaresh C. Dabir
Source: European Journal of Obstetrics and Gynecology and Reproductive Biology - Category: OBGYN Source Type: research
Abstract Ehlers-Danlos syndrome (EDS) is a connective tissue disorder characterized by joint hypermobility and skin extensibility and is often accompanied by chronic pain. Rhythmic sensory stimulation (RSS) can be defined as the stimulation of the senses in a periodic manner within a range of low frequencies. Music plus sound delivered through a vibroacoustic device is a form of RSS and has demonstrated utility in managing pain. In this current study, we conducted an open-label pilot study of 15 patients with hypermobile EDS using RSS as the intervention. Posttreatment improvements were seen in 11 of the 15 patien...
Source: Pain Research and Management - Category: Anesthesiology Authors: Tags: Pain Res Manag Source Type: research
AbstractPurpose of reviewThe goal of this paper is to review categorically treatment options for the diverse mechanisms to which studies have shown underlie bloating and abdominal distension.Recent findingsWhile previous studies typically associate bloating and distension with a functional gastrointestinal disorder, in appropriate clinical settings, workup to look at diseases such as postural orthostatic hypotension, chronic intestinal pseudoobstruction, Ehlers-Danlos syndrome, and mast cell activation syndrome can further provide insight into to these patients.SummaryBloating and distension are commonly presented to the g...
Source: Current Treatment Options in Gastroenterology - Category: Gastroenterology Source Type: research
Conclusions: The most common comorbidities in Danish patients with EDS were gastrointestinal functional disorders, hernias, asthma, pneumonia, and osteoporosis. The causality between these comorbidities and EDS should be investigated further.Implications for RehabilitationEhlers-Danlos syndrome constitutes a group of connective tissue diseases causing a variable range of organ dysfunction.The comorbidity burden for patients with Ehlers-Danlos syndrome was unexplored previously.This study showed that the most common comorbidities in Danish patients with Ehlers-Danlos syndrome are gastrointestinal functional disorders, herni...
Source: Disability and Rehabilitation - Category: Rehabilitation Authors: Tags: Disabil Rehabil Source Type: research
We report a case of huge BD in pregnancy that became symptomatic as the pregnancy progressed to term with urinary retention, recurrent urinary infections and fetal malpresentation.
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - Category: OBGYN Authors: Tags: Full length article Source Type: research
Genes, Vol. 11, Pages 547: Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders Genes doi: 10.3390/genes11050547 Authors: Ritelli Colombi Ehlers–Danlos syndromes (EDS) are a group of heritable connective tissue disorders (HCTDs) characterized by a variable degree of skin hyperextensibility, joint hypermobility and tissue fragility. The current EDS classification distinguishes 13 subtypes and 19 different causal genes mainly involved in collagen and extracellular matrix synthesis and maintenance. EDS need to be differentiated from other HCTDs with ...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Editorial Source Type: research
CONCLUSION: Direct reconstruction appears to be efficient for most RAA. This technique is complementary to ex vivo autotransplantation and endovascular treatment. PMID: 32402807 [PubMed - as supplied by publisher]
Source: PubMed: Eur J Vasc Endovasc ... - Category: Surgery Authors: Tags: Eur J Vasc Endovasc Surg Source Type: research
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