Wk8 EDS

Question 1

What is EDS?

Answer 1

• group of inherited connective tissue disorders (collagen)
• 13 subtypes
• huge range of severity and complications
• different methods of inheritance (autosomal dominant, autosomal recessive)
• prognosis: depends on the type

Question 2

What are the microscopic structures affected in EDS?

Answer 2

1. Connective tissue - abnormalities in collagen structure seen in the reticular dermis - become looser
   - E.g. mutations in type V collagen (a regulator of type 1 collagen fibrillogenesis).
   - Irregularities in diameter of fibrils or shape of collagen.
2. Blood vessels - weakened so increased risk of ruptures (Vascular EDS).

Question 3

What are macroscopic structures affected in EDS?

Answer 3

Skin - hyperelasticity; easily bruised.

Joint - hypermobility; frequently dislocated.

Question 4

What are the functional problems associated with EDS?

Answer 4

Established symptoms: elastic skin and hypermobility

● Chronic widespread pain
● Fragile skin that breaks and bruises easily
● Spontaneous joint dislocation
● Dizziness and heart palpitations
● Digestive problems
● Ventral herniation
● Tinnitus
● Chronic fatigue

Question 5

What is the likelihood of a foetus having EDS?

Answer 5

Hyper mobile type = 1 in 5000-20000
Classical Type = 1 in 20000-40000
Kyphoscoliotic type = 1 in 100000
Vascular type = 1 in 50000-200000

Question 6

What treatments are available for EDS?

Answer 6

Painkillers
Low Blood Pressure tablets
Physical Therapy
Surgery for joint repair/ruptured blood vessels/organs

Question 7

What is the associated morbidity of this syndrome?

Answer 7

● Elastic skin that easily bruises
● Joint hypermobility
● Joint dislocation
● Cardiovascular abnormalities e.g., mitral valve prolapse, aortic root dilation
● Congenital clubfoot
● Hypotonia, musculoskeletal pain and delayed muscle development
● Delayed wound healing

Question 8

What are acquired development problems?

Answer 8

● Constraints in mobility
● Frequent joint dislocation (Hypermobile)
● Chronic joint pain
● Arthritis
● Rupture of blood vessels (Vascular)
● Improper closure of surgical wounds

Question 9

What are associated congenital developmental problems?

Answer 9

Classical EDS
Skin hyperextensibility, joint laxity, fragile blood vessels and potential heart valve deformity.

Vascular EDS
Talipes, dislocation of the hips and sometimes decreased levels of subcutaneous adipose tissue (this gives a characteristic facial appearance).

Arthrochalasia
Severe muscular hypotonia and bilateral hip dislocations.

Kyphoscoliotic
Microcornea, myopia, glaucoma, scoliosis and muscular hypotonia.

Musculocontractural
Facial and cranial structural defects, contractures of the fingers, severe kyphoscoliosis and talipes.

Myopathic
Muscle hypotonia, myopathy, potential scoliosis and hearing issues.