Ehlers–Danlos syndrome (EDS)

What is it?

It is a group of inherited connective tissue disorders, which affects the formation of type I and III collagen. The syndrome is named after Edvard Ehlers from Denmark and Henri-Alexandre Danlos from France as they found that it affected the collagen.

What is collagen?

Collagen is an important in the skin, joints, muscles, ligaments, blood vessels and visceral organs. It gives these tissues their strength and the collagen in connective tissue helps tissues resist deformation.

So what happens to these tissues in Ehlers-Danlos syndrome?

Basically the abnormal collagen makes everything more elastic and weaker in structures that have collagen. Obviously this will depend on the type of EDS.

Classifications:

(These are the main types but there are more than just these)

Classical types 1 & 2:

Type 1 presents with severe skin involvement, and type 2 with mild to moderate skin involvement. It affects 1 in 20,000 to 50,000 people and is caused by autosomal dominant mechanism and affects type-V collagen, as well as type I.

Hypermobility type 3:

Joint hypermobility and instability are the hallmark of this type and they have less severe skin manifestations. 1 in 10,000 to 15,000 affected and it is caused by an autosomal dominant or autosomal recessive mechanism. Mutations in either of two separate genes may lead to this variant.

Vascular type 4:

The vascular type is one of the more serious forms because blood vessels and organs are fragile and prone to tearing. One in four people develop a significant health problem by 20 and more than 80% develop life-threatening complications by 40. Many patients have a characteristic facial appearance: large eyes, small chin, sunken cheeks, thin nose and lips, lobeless ears), have a small stature with a slim build, and typically have thin, pale, translucent with very easy bruising and propensity to develop ecchymoses. It is an autosomal dominant defect in the type-III collagen synthesis; affecting approximately 1 in 100,000 to 250,000 people.

Kyphoscoliosis type 6:

Very rare! Fewer than 60 cases reported. Characterised by progressive curvature of the spine (scoliosis), fragile eyes, and severe muscle weakness. It is an autosomal recessive defect due to deficiency of an enzyme called lysyl hydroxylase.

Arthrochalasis types 7A & B:

Also very rare! About 30 cases reported. Characterised by very loose joints and dislocations involving both hips. It affects type-I collagen.

Dermatosparaxis type 7C:

Also very rare! About 10 cases reported. Characterised by extremely fragile and sagging skin.

So what are the main symptoms?

The severity can vary from mild to life-threatening and can be as follows:

Musculoskeletal:

Hyper-flexible joints

Unstable joints

Early onset of advanced osteoarthritis

Chronic degenerative joint disease

Stretchy ligaments and tendons

Tearing of tendons or muscles

Swan neck deformity of the fingers

Muscle fatigue

Weak muscle tone

Osteopenia (low bone density)

Deformities of the spine,

Myalgia (muscle pain) and arthralgia (joint pain)

Flat feet

Carpal tunnel syndrome

Acroparesthesia,

Neuropathy

Temporomandibular joint syndrome

Skin:

Stretchy skin

Fragile skin

Redundant skin folds

Abnormal wound healing and scar formation

Easy bruising

Molluscoid pseudotumors

Subcutaneous spheroids

Fatty growths on forearms or shins

Angioplasia

Cardiovascular:

Fragile blood vessels

Carotid-cavernous fistula

Unpredictable rupture of medium-sized arteries,

Valvular heart disease

Dilation and/or rupture of ascending aorta

Postural orthostatic tachycardia syndrome (P.O.T.S.)

Orthostatic intolerance

Cystic medial necrosis

Varicose veins

Raynaud's

Livedo reticularis

Also:

High and narrow palate, resulting in dental crowding

Early-onset periodontitis

Nearsightedness

Blue sclera

Retinal detachment

Digestive disorders

Hiatial hernia

Anal prolapse

Dysautonomia

Vulnerability to chest and sinus infections

Collapsed lung  

Intestinal/uterine fragility or spontaneous rupture

Anxiety disorders

Insensitivity to local anesthetics.

Arnold–Chiari malformation

Cranial instability

Migraines

Problems with concentration and/or memory

Problems with proprioception

Club foot

Platelet aggregation failure

Bleeding diathesis

Petechiae

Cerebrospinal fluid leakage

Diagnosis?

This is usually done on symptoms such as hypermobility measures but genetic testing can confirm it.

What are the treatments?

Unfortunately there is no cure!

Close monitoring of the cardiovascular system, physiotherapy, occupational therapy, and orthopaedic instruments such as wheelchairs, bracing, casting may be helpful but not overused if possible. Sufferers should avoid activities that cause the joint to lock out or overextend.

Strengthening of muscles around joints, proprioceptive and neuromuscular training are vital. Aquatic therapy can be used to promote muscular development and coordination without overloading the joints. Light joint mobilisations can be used to lower pain levels and electrotherapy treatments such as transcutaneous electrical nerve stimulation (TENS) can also help.

If conservative therapy doesn’t help then surgical repair of joints may be necessary at some time.

Medication to decrease pain or manage cardiac, digestive, or other related conditions may be prescribed dependant on the type you have. To decrease bruising and improve wound healing, ascorbic acid (vitamin C) can be beneficial. In Vascular EDS, chest or abdominal pains are to be considered trauma situations.

Children should be shown postures and positions to avoid the as this may cause early degeneration of the joints.

Behavioural and psychological therapy can be useful as the condition can be difficult to cope with.

Surgical intervention in patients with Ehlers-Danlos Syndrome may be needed after dislocations or subluxations. Instability of almost all joints is usually the case, but the lower and upper extremities, with the wrist, fingers, shoulder, knee, hip, and ankle tend to be the worse.

Common surgical procedures are joint debridement, tendon replacements, capsulorraphy and arthroplasty. Studies have shown that after surgery, pain can reduce and patient satisfaction can improve, but surgery does not guarantee an optimal result and often the results aren’t good enough.

In reality, conservative treatment is more effective than surgery especially because patients with Ehlers-Danlos Syndrome have extra risks of surgical complications due to the disease. 

If you need any further information or would like to book an appointment then call Hawkes Physiotherapy on 01782 771861 or 07866195914

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