Hypermobile Ehlers-Danlos Syndrome (hEDS) is one of the subtypes of Ehlers-Danlos Syndrome (EDS), a group of genetic connective tissue disorders. hEDS is characterized by joint hypermobility, skin that is often soft and velvety, and a variety of other symptoms. Here are key features and information about Hypermobile EDS:
Clinical Features:
Joint Hypermobility: The hallmark feature of hEDS is joint hypermobility, which means that joints can move beyond the normal range of motion. This can lead to joint pain, instability, and an increased risk of dislocations or subluxations.
Soft, Velvety Skin: Individuals with hEDS may have soft and velvety skin that is more elastic than normal. However, the skin manifestations are usually less pronounced compared to other types of EDS.
Musculoskeletal Symptoms: Besides joint issues, individuals may experience muscle pain, weakness, and fatigue. Chronic pain, particularly in the muscles and joints, is common.
Fatigue and Sleep Disturbances: Many individuals with hEDS report fatigue and difficulties with sleep.
GI Issues: Some individuals may experience gastrointestinal issues, such as irritable bowel syndrome (IBS).
Cardiovascular Symptoms: Autonomic dysfunction and cardiovascular symptoms, such as orthostatic intolerance and palpitations, may be present in some cases.
Skin Involvement: While not as pronounced as in other EDS subtypes, individuals may still experience some skin abnormalities, such as easy bruising and atrophic scars.
Genetic Basis:
The genetic basis of hEDS is not well understood. Unlike some other types of EDS, there is no identified single gene mutation responsible for hEDS. It is believed to be a complex disorder with both genetic and environmental factors contributing to its development.
Diagnosis and Management:
Diagnosing hEDS can be challenging because there is no specific genetic test available, and the diagnostic criteria are primarily clinical. The 2017 International Classification for Ehlers-Danlos Syndromes outlines the criteria for diagnosing hEDS, including joint hypermobility, skin involvement, and other associated symptoms.
Management of hEDS focuses on addressing symptoms and may include physical therapy to strengthen muscles and stabilize joints, pain management strategies, and lifestyle modifications. Patients may benefit from a multidisciplinary approach involving various healthcare professionals, including rheumatologists, physical therapists, and pain specialists.
It's important for individuals suspected of having hEDS to consult with healthcare professionals, including specialists experienced in connective tissue disorders, for accurate diagnosis and appropriate management.