EhlersDanlosoireyhtymän

Ehlers-Danlos syndromes are a group of inherited connective tissue disorders. Connective tissue provides strength and elasticity to skin, tendons, ligaments, blood vessels, and internal organs. In Ehlers-Danlos syndromes, the connective tissue is faulty, leading to a range of symptoms. The exact prevalence varies depending on the type of Ehlers-Danlos syndrome.

The clinical presentation of Ehlers-Danlos syndromes is highly variable, even within the same subtype. Common features can include hypermobile joints, skin hyperextensibility, and fragile tissues. Joint hypermobility refers to joints that move beyond the normal range. Skin hyperextensibility means the skin can be stretched further than usual. Tissue fragility can manifest as easy bruising, poor wound healing, and the formation of atrophic scars. Some types can affect internal organs, leading to more serious complications.

There are several distinct types of Ehlers-Danlos syndromes, each with specific diagnostic criteria and associated features. The most common type is hypermobile Ehlers-Danlos syndrome, characterized primarily by joint hypermobility and chronic pain. Other types, such as classical, vascular, and kyphoscoliotic Ehlers-Danlos syndromes, have more specific and sometimes severe manifestations, including significant skin issues, vascular problems, or skeletal deformities. Diagnosis is typically based on clinical evaluation, family history, and genetic testing, though genetic causes are not identified for all individuals.

Currently, there is no cure for Ehlers-Danlos syndromes. Management focuses on addressing the symptoms and preventing complications. This often involves a multidisciplinary approach, including physical therapy to strengthen muscles and improve joint stability, pain management strategies, and precautions to protect joints and skin. For individuals with vascular Ehlers-Danlos syndrome, regular medical monitoring and lifestyle modifications are crucial to reduce the risk of serious vascular events.