Illinois woman dismissed by doctors diagnosed with rare Ehlers-Danlos

Megan King, 28, from Lake Zurich, Illinois, has had to undergo 34 operations after being diagnosed with Ehlers-Danlos syndrome, a rare genetic disorder which affects connective tissues.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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Ehlers-Danlos Syndrome (EDS) is a connective tissue disorder resulting in abnormal collagen synthesis leading to skin, joint, ligament, blood vessel and organ abnormalities. Studies in adults show an association with heavy menstrual bleeding, dysmenorrhea, and other gynecologic concerns, but there are no studies looking at gynecologic problems an adolescent population with EDS. We aimed to survey gynecologic complaints and management in a pediatric and adolescent population with EDS.
Source: Journal of Pediatric and Adolescent Gynecology - Category: OBGYN Authors: Source Type: research
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
We describe the rare cases of kEDS in Korean siblings with two novel compound heterozygous variants, c.926_934del (p.Leu309_Leu311del) and c.2170_2172del (p.Phe724del) in the PLOD1 gene. They had congenital hypotonia, joint laxity, skin hyperextensibility, Marfanoid habitus, high myopia and atrophic scarring. The younger sibling had an early-onset progressive kyphoscoliosis, while the older sibling showed mild scoliosis during childhood. Intrafamilial variability of the clinical severity and age of kyphoscoliosis onset observed in our cases. PMID: 32174067 [PubMed - in process]
Source: Journal of Korean Medical Science - Category: Biomedical Science Tags: J Korean Med Sci Source Type: research
Conditions:   Autonomic Neuropathy;   Ehlers-Danlos Syndrome Hypermobility Type;   Small Fiber Neuropathy;   Postural Tachycardia Syndrome Intervention:   Other: No intervention planned, but all patients get our standart treatment Sponsors:   RWTH Aachen University;   DLR German Aerospace Center Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Abstract Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and variable tissue fragility. However, there are limited published data on the dental manifestations of EDS. This review systematically assessed the spectrum of published dental anomalies in various types of EDS. Twenty-four individual case reports/series and 3 longer case-control studies, reporting on a total of 84 individuals with a clinical diagnosis of EDS, were included in the data analysis. The main dental features listed in classical EDS were pulp calcif...
Source: Acta Dermato-Venereologica - Category: Dermatology Authors: Tags: Acta Derm Venereol Source Type: research
ConclusionMcEDS ‐DSE is a congenital multisystem disorder with progressive symptoms involving craniofacial, skeletal, cutaneous, and cardiovascular systems, similar to the symptoms of mcEDS ‐CHST14. However, the burden of symptoms seems lower in patients with mcEDS ‐DSE.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
This study describes the formation of the vEDS Research Collaborative and methods used for stakeholder engagement.
Source: Journal of Vascular Surgery - Category: Surgery Authors: Source Type: research
Nutcracker syndrome refers to the clinical manifestations of left renal vein compression between the superior mesenteric artery and the abdominal aorta, causing urinary changes and low back pain.
Source: EJVES Extra - Category: Surgery Authors: Tags: Case Report Source Type: research
Individuals with hypermobility spectrum disorder or hypermobile Ehlers-Danlos Syndrome (HSD/hEDS) are increasingly encountered by gastroenterologists and pose complex clinical challenges. Uncontrolled studies have found functional gastrointestinal disorders (FGIDs) to be common in patients with HSD/hEDS. Some patients have somatic symptoms (medically unexplained symptoms) that might affect FGIDs. We performed a case –control study to determine the prevalence of and factors associated with Rome IV FGIDs in subjects with HSD/hEDS compared with age- and sex- matched population-based controls.
Source: Clinical Gastroenterology and Hepatology - Category: Gastroenterology Authors: Source Type: research
Conclusions: The use of custom-made foot orthoses help in the management of the symptoms by participants. This study could contribute to the foot specialists being considered as an additional member in multidisciplinary teams that are trying to develop an approach for patients with EDS.
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Article Source Type: research
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