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Ehlers-Danlos Syndromes (EDS) are a group of genetic connective tissue disorders, characterized by a range of features including hypermobile joints, skin that stretches more than typical, and fragile tissues. The hypermobile type of EDS (hEDS) is the most common and is characterized by symptoms such as joint hypermobility, chronic pain, and various cardiovascular, digestive, and dermatological issues.
The genetics behind EDS are complex, involving various genes that affect the production and quality of collagen and other proteins that contribute to the structure and integrity of connective tissue. Each type of EDS is associated with mutations in specific genes. For instance, mutations in the COL5A1 and COL5A2 genes, which affect Type V collagen, are associated with the classical type of EDS. However, the specific genetic markers for hEDS have yet to be definitively identified, although ongoing research is actively trying to pinpoint relevant genetic variants.
Researchers continue to explore the genetic landscape of EDS to better understand the underlying mechanisms and improve diagnostic criteria. For instance, the HEDGE study is examining whole-genome sequences from individuals with EDS to identify potential genetic causes of hEDS. This research is crucial as, currently, there is no laboratory test that can definitively diagnose hEDS; diagnosis is primarily based on clinical evaluation and meeting specific diagnostic criteria. But watch for research from the Norris Lab at MUSC described here LINK.
Management of EDS, especially hEDS, focuses on symptom relief and improving quality of life since there is no cure. This includes physical therapy, pain management, and various interventions to manage the symptoms affecting the digestive system, cardiovascular health, and other body systems impacted by the disorder.
Family Heritable Disorder
The inheritance patterns of EDS depend on the specific type, as each subtype can have different associated gene mutations. Most types of EDS are inherited in an autosomal dominant manner, meaning only one copy of the mutated gene inherited from one parent is sufficient to cause the disorder. This includes the more common types such as hypermobile EDS (hEDS), classical EDS, and vascular EDS. In these cases, there is a 50% chance that a child of an affected parent will inherit the condition.
Some types of EDS, however, are inherited in an autosomal recessive manner, meaning a person must inherit two copies of the mutated gene, one from each parent, to be affected. This pattern is less common and includes types such as dermatosparaxis EDS and musculocontractural EDS. Parents of a child with an autosomal recessive type are typically carriers but do not show symptoms themselves.
The genetic mechanisms and specific genes involved can vary widely among the different types of EDS, with some types linked to mutations in genes related to collagen production, while others affect genes related to other proteins that interact with collagen in the connective tissues
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