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Signs and Symptoms

 

 

Signs vary widely based on which type of EDS the patient has. In each case, however, the signs are ultimately due to faulty or reduced amounts of collagen. EDS typically affects the joints, skin, and blood vessels. Following is a list of major signs and symptoms.

Musculoskeletal:
 

  • Hyper-flexible joints  (It is possible to be very flexible or have "double joints", however, this is not the same as EDS.)

  • Unstable joints that are prone to:

Thoracic outlet syndrome sprain, dislocation, subluxation and hyperextension

  • Early onset of advanced osteoarthritis 

  • Chronic degenerative joint disease

  • Swan neck deformity of the fingers

  • Boutonniere deformity of the fingers

  • Tearing of tendons or muscles

  • Deformities of the spine, such as: scoliosis (curvature of the spine), kyphosis (a thoracic hump), tethered spinal cord syndrome, occipitoatlantoaxial hypermobility 

  • Myalgia (muscle pain) and arthralgia (joint pain), which may be severe

  • Trendelenburg's sign 

  • Osgood-Schlatter Disease 

skin:

  • Fragile skin that tears easily 

  • Easy bruising 

  • Redundant skin folds

  • Molluscoid pseudotumors,  especially on pressure points

  • Subcutaneous spheroids

  • Livedo reticularis

Cardiovascular:

  • Arterial rupture

  • Valvular heart disease (such as mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve prolapse) 

  • Dilation and/or rupture of ascending aorta

  • Postural orthostatic tachycardia syndrome

  • Raynaud's Phenomenon

Other manifestations or complications:

  • Hiatial hernia

  • Anal prolapse

  • Collapsed lung (pneumothorax)

  • Nerve compression disorders (carpal tunnel syndrome, acroparesthesia, neuropathy)

  • Insensitivity to local anesthetics.

  • Arnold–Chiari malformation (brain disorder)

  • Platelet aggregation failure (platelets do not clump together properly)

  • Pregnancy complications: increased pain, mild to moderate peripartum bleeding, cervical insufficiency, uterine tearing,or premature rupture of membranes.

  • Sleep Apnea

Because it is often undiagnosed or misdiagnosed in childhood, some instances of Ehlers–Danlos syndrome have been mischaracterized as child abuse.The pain associated with this condition is a serious complication.
 

Genetics

 As mentioned under "Classification" above, only some variations of Ehlers-Danlos can be positively identified as tied to specific genetic variation (as opposed to epigenetic or environmental factors.)

Mutations in the following genes can cause different subtypes of the Ehlers–Danlos syndrome:
 

  • Fibrous proteins: COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, and TNXB

  • Enzymes: ADAMTS2, PLOD1, B4GALT7, DSE, and D4ST1/CHST14

Mutations in these genes usually alter the structure, production, or processing of collagen or proteins that interact with collagen. Collagen provides structure and strength to connective tissue throughout the body. A defect in collagen can weaken connective tissue in the skin, bones, blood vessels, and organs, resulting in the features of the disorder.

Inheritance patterns depend on the type of Ehlers–Danlos Syndrome. Most forms of the condition are inherited in an autosomal dominant pattern, which means only one of the two copies of the gene in question must be altered to cause the disorder. The minority are inherited in an autosomal recessive pattern, which means both copies of the gene must be altered for a person to be affected by the condition. It can also be an individual (de novo or "sporadic") mutation. Please refer to the summary for each type of Ehlers–Danlos syndrome for a discussion of its inheritance pattern.

Hope

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