EDS Types

Ehlers-Danlos Syndrome (EDS) is a group of genetic disorders that affect connective tissue. These tissues provide structure and support to the skin, joints, and blood vessels. There are 13 different types of EDS, each with unique symptoms and causes. Knowing the specific type is crucial for proper diagnosis and management. Here’s a closer look at the common and some rare types of EDS.

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Hypermobile EDS (hEDS)

Hypermobile EDS (hEDS) is the most common type, marked by joint hypermobility. Joints move beyond the normal range, causing frequent dislocations and subluxations. People with hEDS often experience chronic joint pain and instability.

This makes everyday activities challenging and painful. Skin may be soft and slightly stretchy, but less than in other types. Fatigue and dizziness are also common in those with hEDS. There is no specific genetic marker for hEDS yet. Diagnosis is based on clinical symptoms and family history.

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Classical EDS (cEDS)

Classical EDS (cEDS) affects both the skin and joints. The skin is highly elastic, soft, and bruises easily. Wounds heal slowly, often leaving thin, wide scars. Joint hypermobility is present, but it is less severe than in hEDS.

People with cEDS often suffer from frequent joint dislocations and chronic pain. Mutations in the COL5A1 or COL5A2 genes cause cEDS. These genes affect type V collagen, a key connective tissue component. Genetic testing can confirm the diagnosis of cEDS.

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Vascular EDS (vEDS)

Vascular EDS (vEDS) is the most severe type because it affects blood vessels and organs. This type causes fragile arteries that can rupture easily, leading to dangerous bleeding. People with vEDS have thin, translucent skin that shows underlying veins. They also bruise easily and have distinct facial features like a thin nose and lips.

Spontaneous rupture of arteries, intestines, or uterus can occur, requiring immediate care. VEDS is caused by mutations in the COL3A1 gene, affecting type III collagen. Regular monitoring and careful physical activities are essential for managing vEDS.

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Kyphoscoliotic EDS (kEDS)

Kyphoscoliotic EDS (kEDS) causes severe spine curvature, known as kyphoscoliosis. This condition often starts in infancy and can worsen over time. Individuals with kEDS also have fragile eyes prone to rupture. Severe muscle weakness and joint hypermobility are common, leading to frequent dislocations.

The skin is typically thin, soft, and bruises easily. Mutations in the PLOD1 or FKBP14 genes cause kEDS. These genes affect collagen processing, critical for tissue strength. Early diagnosis and treatment help manage symptoms and prevent complications.

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Arthrochalasia EDS (aEDS)

Arthrochalasia EDS (aEDS) is rare and involves extreme joint hypermobility and congenital hip dislocation. This type leads to significant joint instability, causing frequent dislocations. Skin is soft, elastic, and prone to bruising. Muscular hypotonia, or low muscle tone, affects movement and posture.

Mutations in the COL1A1 or COL1A2 genes cause aEDS. These mutations affect type I collagen production, vital for connective tissue strength. Diagnosis often requires genetic testing due to its rarity.

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Dermatosparaxis EDS (dEDS)

Dermatosparaxis EDS (dEDS) is very rare and primarily impacts the skin. People with dEDS have loose, saggy skin that is soft and fragile. They bruise easily and have large, slow-healing wounds from minor injuries. Joint hypermobility is usually mild compared to other EDS types. The condition results from mutations in the ADAMTS2 gene, affecting collagen processing. Skin care and injury prevention are critical for managing dEDS.

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Brittle Cornea Syndrome (BCS)

Brittle Cornea Syndrome (BCS) is a rare EDS type that mainly affects the eyes. Individuals with BCS have very thin corneas, which can rupture easily. This condition can cause severe vision problems or blindness. Joint hypermobility and easy bruising are also common in BCS. Mutations in the ZNF469 or PRDM5 genes cause BCS. Regular eye exams are crucial to managing this condition and preventing complications.

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Spondylodysplastic EDS (spEDS)

Spondylodysplastic EDS (spEDS) features short stature, muscle weakness, and skeletal issues. Common symptoms include bowing of the limbs and delayed motor skills. Joint hypermobility is usually mild, and the skin is soft with slight elasticity. This type is caused by mutations in the B4GALT7, B3GALT6, or SLC39A13 genes. These genes affect the development of connective tissue and bones. Physical therapy and orthopedic care are important for managing spEDS.

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Myopathic EDS (mEDS)

Myopathic EDS (mEDS) primarily affects muscle strength and tone. Individuals with mEDS experience muscle weakness from birth. They may have stiff joints in childhood but develop hypermobility later. The skin can be soft and fragile, with a tendency to bruise easily. MEDS is caused by mutations in the COL12A1 gene, affecting type XII collagen. Management focuses on improving muscle strength and preventing further complications.

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Periodontal EDS (pEDS)

Periodontal EDS (pEDS) is rare and primarily affects the gums and teeth. People with pEDS suffer from severe early-onset periodontitis, leading to tooth loss. They may also have fragile gums that bleed easily. Joint hypermobility and soft, fragile skin are also common. Mutations in the C1R or C1S genes cause pEDS. Regular dental care is essential to managing gum health and preventing tooth loss.

Living with EDS

Living with EDS requires careful management and lifestyle adjustments to avoid complications. Each type presents unique challenges, so personalized care is essential. Regular medical check-ups, physical therapy, and careful activity planning help manage symptoms.

Support from healthcare providers, family, and patient communities is crucial. Understanding your specific EDS type helps in managing symptoms and planning effective treatments. Early diagnosis and intervention can improve quality of life significantly.

Why Choose Comfort Clinic?

Comfort Clinic is distinguished by its dedication to providing cutting-edge therapies and outstanding patient empathy. Our team of skilled experts is committed to providing individualized treatment that caters to the particular requirements of every patient. We put safety and effectiveness first, making sure that every treatment is carried out as precisely as possible.

At Comfort Clinic, we use the most recent advancements in medical science and technology to provide the best possible results. Our method is clear-cut and educational, making sure you comprehend every facet of your treatment regimen.

Dulce Galaviz