Ehlers-Danlos Syndrome (EDS) is a group of genetic disorders characterized by a defect in the synthesis of collagen, a protein that provides strength and elasticity to connective tissues. Collagen is a crucial component of various tissues in the body, including the skin, joints, blood vessels, and internal organs. The genetic basis of EDS involves mutations in genes responsible for the production, processing, or structure of collagen.
There are currently 14 recognized types of EDS, each associated with specific genetic mutations. The most common type include:
Classical EDS (cEDS): Mutations in the COL5A1 or COL5A2 genes, which code for type V collagen.
Classical Ehlers-Danlos Syndrome (cEDS) is one of the subtypes of Ehlers-Danlos Syndrome, a group of genetic connective tissue disorders. cEDS is primarily characterized by skin hyperextensibility (stretchiness), joint hypermobility, and a tendency to form atrophic scars. Here are some key features and information about Classical EDS:
Clinical Features:
Skin Hyperextensibility: Individuals with cEDS often have unusually soft, stretchy, and fragile skin. It can be easily hyperextended, leading to easy bruising and the formation of widened atrophic scars.
Joint Hypermobility: Joint hypermobility is a common feature, and individuals may experience joint dislocations or subluxations. This can lead to joint pain and instability.
Atrophic Scars: Scars in individuals with cEDS tend to be atrophic, meaning they are thin and depressed. These scars may be wider than typical scars.
Smooth, Velvety Skin: The skin may have a smooth and velvety texture, and it may be more fragile than normal.
Musculoskeletal Complications: Individuals may experience musculoskeletal complications such as muscle weakness, atrophy, and a tendency to develop contractures.
Complications Involving Blood Vessels and Organs: While not as common as in vascular EDS, some individuals with cEDS may experience problems with blood vessels and internal organs.
Genetic Basis:
Classical EDS is typically caused by mutations in the COL5A1 or COL5A2 genes. These genes provide instructions for making type V collagen, a protein that is essential for the strength and structure of various connective tissues, including skin, tendons, and ligaments.
Inheritance:
cEDS usually follows an autosomal dominant inheritance pattern. This means that an affected individual has a 50% chance of passing the genetic mutation to each of their children.
Diagnosis and Management:
Diagnosis is often based on clinical evaluation, family history, and sometimes genetic testing to confirm the presence of mutations in the COL5A1 or COL5A2 genes.
Management of cEDS focuses on addressing symptoms and may include physical therapy to improve joint stability, pain management, and other supportive measures. Genetic counseling is important for individuals with cEDS and their families to understand the genetic basis, inheritance pattern, and potential risks.
It's important for individuals suspected of having cEDS to consult with healthcare professionals, including geneticists and other specialists experienced in connective tissue disorders, for accurate diagnosis and appropriate management.