Ehlers-Danlos Syndromes
Ehlers-Danlos syndromes (EDS) are a group of rare genetic disorders that affect the connective tissues supporting the skin, joints, blood vessels, and internal organs. People with Ehlers-Danlos syndromes typically have overly flexible joints, fragile skin, and an increased risk of bruising, scarring, and other complications due to weakened collagen.
Collagen is a key protein in connective tissue. It provides structure and strength throughout the body. In EDS, genetic mutations disrupt collagen production or processing, making tissues unusually stretchy or fragile. There are several different types of EDS, each linked to a specific gene or protein abnormality.
The most common form is hypermobile EDS (hEDS), which causes joint instability, frequent dislocations, and chronic pain. Other forms include:
Classical EDS, which features skin that stretches easily and heals with distinctive scars
Vascular EDS, a rare and life-threatening type affecting blood vessels and organs
Kyphoscoliotic EDS, which causes severe spinal curvature and muscle weakness
Arthrochalasia and dermatosparaxis types, which are very rare and present in early infancy
EDS can range in severity. Some people have mild symptoms, while others experience daily joint pain, fatigue, or serious complications. Diagnosis can be difficult, especially for milder types like hEDS, which may be mistaken for general joint hypermobility or growing pains in children.
Ehlers-Danlos Syndromes
In South Africa, EDS remains underdiagnosed due to limited awareness among healthcare providers and the public. Access to genetic testing is often restricted to private clinics or university hospitals, making it harder for patients in rural areas to receive confirmation.
Living with EDS requires long-term care, often involving physiotherapy, pain management, and support for mental health. Although there is no cure, early recognition and appropriate care can improve quality of life and prevent complications.
Understanding Ehlers-Danlos syndromes helps patients, doctors, and families take proactive steps to manage symptoms, reduce injuries, and plan for long-term health.
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