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Ehlers-Danlos Syndromes [EDS]

Published: 20 November 2017
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A collection of genetic disorders that involve mutations of the protein collagen. Connective tissues such as collagen, maintain the skin, bones, blood vessels, and many other organs and tissues. All types of Ehlers-Danlos Syndromes can affect the joints and skin. Each type comes with its own set of signs and symptoms, however it is common for symptoms to overlap from one type to another, making genetic testing important if more serious types are suspected. Currently, genetic testing is available for all types except Hypermobility Type (hEDS).

Some common attributes are: easy bruising, elastic and fragile skin, abnormal scarring and overly flexible joints.

There are now thirteen recognized sub-types of EDS:

  • Classical EDS (cEDS)
  • Classical-like EDS (clEDS)
  • Cardiac-valvular EDS (cvEDS)
  • Vascular EDS (vEDS)
  • Hypermobile EDS
  • Arthrochalasia EDS (aEDS)
  • Dermatosparaxis EDS (dEDS)
  • Kyphoscoliotic EDS (kEDS)
  • Brittle Cornea Syndrome (BCS)
  • Spondylodysplastic EDS (spEDS)
  • Musculocontractural EDS (mcEDS)
  • Myopathic EDS (mEDS)
  • Periodontal EDS (pEDS)

 

 

Pseudoxanthoma Elasticum (PXE) [PXE]

Published: 3 July 2016
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An inherited disorder caused by genetic mutations that affect the connective tissue in some body parts.  The elastic tissue becomes mineralized and there is a buildup of deposits made from calcium and other minerals in the elastic fibers.  Parts of the body effected can be, but are not limited to the skin, eyes, cardiovascular and gastrointestinal system.

This is a progressive disorder and unfortunately at this time there is no way to predict the progression in different patients.  Each case is unique. For instance, one of the most common signs of the condition is skin lesions – however, there are patients that never develop them.

Recommended Doctor(s) would depend on each specific way it manifests: Rheumatologist (overall connective tissue), Cardiologist (heart and vascular), Gastroenterologist (gastrointestinal), etc.

Loeys-Dietz Syndrome

Published: 3 July 2016
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A connective tissue disorder with four specific types; which are differentiated by their genetic causes.  Signs and symptoms have no specific onset age range and the severity also ranges by person. One key sign of the condition is an enlarged aorta but symptoms are not limited to the heart.  Signs and symptoms can also be found in the blood vessels, bones, joints, skin, and internal organs such as the intestines, spleen, and uterus.

Epidermolysis Bullosa (EB)

Published: 1 July 2016
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Epidermolysis Bullosa (ep-ih-dur-MOL-uh-sis buhl-LOE-sah)

A connective tissue disorder characterized by the formation of blisters resulting from trivial trauma. These blisters may materialize externally (on the skin) or internally, being found in the mouth, esophagus, stomach, intestines, and/or bladder. EB is believed to affect approximately 1 in every 20,000 births in the United States, and the severity of symptoms can range from mild to life-threatening. While no cure has been found, mild forms can improve with with age.

EB is genetic and is characterized into three types. Depending on the type it can be either autosomal dominant (requiring only one parent with the gene) or autosomal recessive (requiring both parents to have the gene) and genetically involves defects in the collagen, lanolin and keratin.

Stickler Syndrome

Published: 1 July 2016
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A connective tissue disorder that is said to be a “Collagenopathy, types II and XI.” Stickler Syndrome is characterized by unique facial features, hearing loss, eye anomalies, and joint issues.  There is no standard set of signs or symptoms; however, one key indicator is a flattened facial appearance.

Fibromyalgia [FM]

Published: 8 April 2016
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A condition known for widespread musculoskeletal pain; often centralized at “trigger points”.  These are spots on the body, often joints, where the pain seems to radiate from.  Other symptoms include fatigue, memory and mood issues, sleep disturbances and cognitive difficulties (Fibro fog).

Symptoms sometimes begin after a physical trauma, surgery, infection or significant psychological stress. In other cases, symptoms gradually accumulate over time with no single triggering event.

It has been theorized that the widespread pain and other issues come from a processing issue within the brains pain receptors.  There is no known singular test for Fibromyalgia; rather a diagnosis comes from a complete history, symptoms and physical exam.  A variety of medications have been found to help ease the symptoms of Fibromyalgia as there is no cure.

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