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The Varieties of Ehlers–Danlos Syndrome: Can You Recognize These 13 Rare Connective Tissue Disorders?
Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders that includes 13 different subtypes. Symptoms of these disorders often include loose joints, joint pain, loss of elasticity and tenderness of the skin, and abnormal scarring. These symptoms may be noticed at birth or in early childhood. Over time, EDS may lead to a number of complications, including aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis.
According to the latest classification in 2017, the number of EDS subtypes has increased significantly, and some rarer types have been added.
The defect usually results from mutations in specific genes, and 19 genes are known to be potentially involved in the condition. However, the specific genetic causes of some subtypes, such as multiple Ehlers-Danlos syndrome (hEDS), remain unclear. Some cases are due to new mutations arising during early development, while others are inherited in an autosomal dominant or recessive manner. These mutations often result in defects in the structure or processing of collagen or trichometin.
Diagnosis of the syndrome is typically based on existing symptoms and confirmed through genetic testing or skin biopsy, which is particularly important for hEDS, but many people may initially be misdiagnosed with hypochondriasis, depression or chronic fatigue syndrome. Genetic testing can confirm all other types of EDS.
Currently, there is no cure for EDS, and the main treatment measure is supportive therapy.
Physical therapy and supportive braces can help strengthen muscles and support joints. Several medications can relieve the symptoms of EDS, such as analgesics and blood pressure medications, which can reduce complications caused by joint pain and fragile blood vessels. Most people with EDS have a normal life expectancy, but some types that affect blood vessels may reduce life expectancy. All types of EDS can be fatal in some patients. At least 1 in 5,000 people worldwide suffer from hEDS, while the incidence of other types is lower. The prognosis depends on the specific type of disease.
Different Types of Ehlers–Danlos SyndromeAccording to the Ehlers-Danlos Society, these syndromes can be grouped according to the symptoms caused by specific gene mutations. Group A diseases affect primary collagen structure and processing; Group B diseases affect collagen folding and cross-linking; while the other groups affect the bone matrix, glycosaminoglycan biosynthesis, and intracellular processes, respectively. All of these types have their own unique symptoms.
Multiple EDS (hEDS)
Multiform Eds is characterized by hypermobility affecting both small and large joints, which may lead to frequent subluxations and dislocations. People often notice tender skin, prone to purpura, and chronic muscle or bone pain. This type does not affect the skin as much as other types.
Vascular EDS (vEDS)
Vascular EDS is characterized by extremely fragile blood vessels and organs that are prone to rupture. Such people are usually short and have distinctive facial features.
Classic EDS (cEDS)
Classic EDS is characterized by extremely elastic skin and hypermobility of the joints, often with severe bruising and abnormal scarring.
Other types
In addition to the above types, there are several other subtypes such as Kyphoscoliosis EDS, Arthrochalasia EDS, Dermatosparaxis EDS, etc. Each subtype has its own specific genetic variants and clinical manifestations, forming this complex family of diseases.
Symptoms and Diagnosis
EDS affects connective tissue throughout the body, so the range of symptoms is very wide. Musculoskeletal symptoms include joint instability, dislocation, and arthritis. The skin may be unusually soft or tear easily.
Depending on the subtype, the patient's key symptoms and prognosis can vary greatly, making early and correct diagnosis and treatment particularly important.
In addition, EDS may also affect the cardiovascular system, such as the risk of artery dilation or rupture. For female patients, the risk of injury after childbirth is also an aspect that cannot be ignored. Due to the diversity of these symptoms, professional medical support and appropriate treatment strategies are essential.
Among these 13 different types, can you identify their unique characteristics and symptoms and understand their profound impact on your life?
