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Questions and Answers
What is the cause of Ehlers-Danlos syndromes (EDS)?
How is the diagnosis of hypermobile Ehlers-Danlos syndrome (hEDS) often confirmed?
What may people with EDS initially be misdiagnosed with?
Which gene variations are commonly associated with the type of EDS that involves the skin more than hEDS?
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What is a characteristic feature of Vascular EDS (vEDS)?
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What is a common feature of Kyphoscoliosis EDS (kEDS)?
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What is the most reliable way to diagnose EDS?
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What is the primary characteristic of Hypermobile EDS (hEDS)?
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Which group of disorders in EDS affects collagen folding and crosslinking?
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What is a known genetic cause of Hypermobile EDS (hEDS)?
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Study Notes
Understanding Ehlers-Danlos Syndrome (EDS)
- Hypermobile EDS (hEDS) affects at least one in 5,000 people globally and is characterized by hypermobility that affects both large and small joints
- Excess mobility was first described by Hippocrates in 400 BC, and the syndromes are named after physicians Edvard Ehlers and Henri-Alexandre Danlos
- In 2017, 13 subtypes of EDS were classified using specific diagnostic criteria, and the syndromes can be grouped by symptoms determined by specific gene mutations
- Group A disorders affect primary collagen structure and processing, Group B disorders affect collagen folding and crosslinking, and Group C are disorders of structure and function of myomatrix
- Group D disorders affect glycosaminoglycan biosynthesis, Group E disorders have defects in the complement pathway, Group F are disorders of intracellular processes, and Group G is considered unresolved forms of EDS
- Genetics of Hypermobile EDS remain unknown, and no known genetic cause of hEDS has been identified
- The ongoing Hypermobile Ehlers-Danlos Genetic Evaluation (HEDGE) study aims to evaluate the genome of people diagnosed with hEDS for a common mutation
- The Medical University of South Carolina discovered a gene variant common with hEDS patients and has screened over 1,000 people diagnosed with hEDS
- The Norris Lab identified a "very strong candidate gene" for hEDS using CRISPR Cas-9 mediated genome editing on mouse models of the disease
- Mutations in COL3A1, TPSAB1, and TNXB genes have been associated with hEDS phenotype, along with genes involved in the formation of the aorta and mitral valves
- Classical EDS (cEDS) is characterized by extremely elastic, fragile skin that bruises easily and hypermobility of the joints
- Diagnosis of hEDS relies on physical attributes and symptoms, and pregnant women with hEDS should be aware of potential complications such as pre-labor rupture of membranes and postpartum depression
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Description
Test your knowledge of Ehlers-Danlos Syndrome (EDS) with this quiz. Explore the subtypes, genetic aspects, diagnostic criteria, and potential complications associated with this rare connective tissue disorder.
