CONNECTIVE TISSUE DISORDERS
Connective tissue disorders are a group of diseases that affect the parts of the body that connect, support, or surround other tissues and organs. These tissues include collagen and elastin, which provide strength and flexibility to skin, joints, blood vessels, and internal organs
.Connective tissue is found throughout the body and includes:
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Tendons (connect muscles to bones)
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Ligaments (connect bones to each other)
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Cartilage
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Fat tissue
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Bone
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Skin
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Blood vessel walls
TYPES
They can be inherited (genetic) or acquired (autoimmune).
Inherited (Genetic) Disorders
These are caused by mutations in genes responsible for collagen or other connective tissue proteins:
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Marfan syndrome
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Ehlers-Danlos syndrome (EDS) & Hypermobility spectrum disorder (HSD)
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Osteogenesis imperfecta
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Stickler syndrome
Autoimmune (Acquired) Disorders
The body’s immune system mistakenly attacks its own connective tissue:
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Systemic lupus erythematosus (SLE)
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Rheumatoid arthritis (RA)
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Scleroderma
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Sjogren's syndrome
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Mixed connective tissue disease (MCTD)
EDS & HSD
Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect the connective tissues, which provide support in skin, joints, blood vessels, and other organs and tissues. The defects in connective tissue result in symptoms that vary in severity and type depending on the specific form of EDS.
Hypermobility Spectrum Disorder(HSD) is a connective tissue disorder that affects the joints, causing them to move beyond the normal range — also known as hypermobility — along with pain and other symptoms.
What is Hypermobility Spectrum Disorder (HSD)?
HSD refers to a group of conditions where people have joint hypermobility plus symptoms (like pain, instability, or fatigue), but don’t meet the full criteria for hypermobile Ehlers-Danlos syndrome (hEDS).
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This page will focus mainly on these two conditions, as they are the most closely linked to CCI & Co.
TYPES OF EDS
There are several types of EDS, with the most common being:
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Hypermobile EDS (hEDS): Characterized by joint hypermobility, frequent dislocations, and chronic pain.
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Classical EDS (cEDS): Features include highly elastic (stretchy) and fragile skin, as well as joint hypermobility.
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Vascular EDS (vEDS): The most severe type, affecting blood vessels and organs, making them prone to rupture.
HEDS is the most common of all types, along with HSD.
SYMPTOMS
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Joint Hypermobility: Unusually flexible joints that extend beyond the normal range of motion.
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Skin Elasticity: Soft, velvety skin that is highly elastic and fragile, prone to bruising and scarring.
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Chronic Pain: Due to joint and muscle issues.
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Frequent Dislocations and Subluxations: Partial dislocations of the joints.
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Easy Bruising: Blood vessels can be fragile, leading to frequent bruising.
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Slow Wound Healing: Scars that may stretch or become wide.
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Cardiovascular Issues: In some types, especially vEDS, there is a risk of blood vessel or organ rupture.
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Muscle Weakness: Generalized weakness and fatigue.
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Digestive Issues: Such as gastrointestinal reflux, constipation, or hernias.
DIAGNOSIS
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Clinical Examination: Assessment of symptoms, including skin texture, joint mobility, and family history.
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Genetic Testing: To identify specific mutations associated with various types of EDS. There's no known gene for hEDS and HSD but reserch is ungoing
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Skin Biopsy: Examining a sample of skin tissue to study collagen structure and composition.
TREATMENT
While there is no cure for EDS & HSD, treatment focuses on managing symptoms and preventing complications:
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Physical Therapy: To strengthen muscles and stabilize joints.
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Pain Management: Medications, physical therapy, and sometimes surgery.
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Protective Measure: Using braces or supports to protect joints, and avoiding activities that put stress on the joints.
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Mobility aids: using aids to manage pain and mobility issues
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Wound Care: Special care for skin injuries to promote healing and minimize scarring.
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Regular Monitoring: Particularly for types that involve cardiovascular risks, such as vEDS, regular check-ups with a cardiologist may be necessary.
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Surgical Interventions: May be required for severe joint issues or vascular complications, though surgeries can be more complicated due to tissue fragility.
PROGNOSIS
The prognosis for EDS & HSD varies widely depending on the type and severity of the condition. Many individuals with EDS live a normal lifespan with proper management of symptoms. However, those with vascular EDS (vEDS) may face serious, life-threatening complications and require more intensive monitoring and care. Regular follow-up with healthcare providers and a multidisciplinary approach to care can help manage the condition effectively.
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For more info, please check out our resources here