Ehlers Danlos syndrome

Ehlers-danlos syndrome (EDS) is a collection of inherited connective tissue disorders that all have in common defects of synthesis or structure of collagen. There are various different types and presentations. I came across an EDS patient today who had over 60 different operations on his vessels!

Types (1997 classification, 1988 classification in brackets):

• Classic EDS (formerly types 1 and 2): premature birth, skin hyperelasticity, easy bruising, joint hypermobility, poor wound healing
• Hypermobile EDS (formerly type 3): joint hypermobility, chronic musculoskeletal pain,
• Vascular EDS (formerly type 4): translucent skin, acrogeria, vessels prone to aneurysm and rupture, hollow organ ruptures,.
• Kyphoscoliosis EDS (type 6, rare)
• Arthrochalasia EDS (type 7A/7B, rare)
• Dermatospraxis EDS (type 7C, rare)

Epidemiology:

1-2/25000
Both autosomal dominant and recessive inheritance patterns
Types tend to 'run in the family', a vascular EDS patient will not have a child with hypermobile EDS.

Signs and symptoms:

Collagen is found in almost every part of the body so signs and symptoms can vary a lot. The type of EDS will determine to some extent the symtoms. 

EDS patients are usually normal at birth with normal cognitive and social development.

The classic signs of EDS are skin hyperelasticity, joint hypermobility and delayed wound healing. 

Joints:
Are hypermobile (increased ROM) and prone to frequent subluxations and dislocations, earlier onset osteoarthritis and joint pain. Musculoskeletal pain can even be mistaken for fibromyalgia.
Greater than 10 degrees extension at the elbow or knee
Greater than 90 degrees extension of the 5th MCP joint
Can place hand on the floor without flexing knees

Skin: translucent and very thin, its very easy to make out the veins below (have a look at the patients chest). skin is characteristically hyperextensible and elastic, its also fragile and tears easily. there is delayed wound healing and severe scarring. Easy bruising. Look for atrophic scars.

Face: Typical facies more prevalent in type 4, vascular EDS. Narrow nose, small ear lobes, prominent eyes, thin lips and small chin

Other:
Organ rupture (bowels, bladder)
Aneurysms
Aortic root dilation
Migraines
Blue sclera (like in osteogenesis imperfecta)
Positive Gorlins sign (can touch tongue to nose)
Acrogeriua (opremature aging)

Diagnosis:
Based on medical history and clinical observations
Genetic testing may aid in diagnosis but not necessary.
diagnostic tests that may aid diagnosis include; collagen gene mutation testing, collagen typing via skin biopsy, echocardiogram, and lysyl hydroxylase or oxidase activity.
Brighton criteria; satisfied with either two major criteria, 1 major and 2 minor or 4 minors. 

Dont confuse this with the Beighton score used within the Brighton criteria to score joint hypermobility.

DDx:
Curta Laxa, Marfans syndrome, Bleeding disorders, Scurvy, Fibromyalgia.

Prognosis:

Only really the vascular EDS type patients have an increased mortality with an average life expectancy of 50yrs. Refer to cardiologist/vascular surgeon.
Normal life expectancy for Classic and Hypermobile type EDS patients.

#medicine #lecturenotes #ehlersdanlos #eds #connectivetissuedisorder #FOAMed #MEDed