Inherited disorders of Connective tissue

Question 1

Give examples of connective tissue disorders

Answer 1

SLE
Sjogren’s
Inflammatory myopathies
Systemic sclerosis
Overlap

Question 2

What are the causes of hypermobility

Answer 2

Marfan syndrome
Ehlers-Danlos syndrome
Hypermobility spectrum disorder
Osteogenesis imperfecta
Normal in children (transient)

Question 3

Symptoms of hypermobility

Answer 3

Joint + muscle pain and stiffness – end of the day and after activity
Clicking joints
Back + neck pain
Fatigue
Poor co-ordination + proprioception
Joint dislocations or partial dislocations
Regular soft tissue injuries

Question 4

Aetiology of Marfan’s syndrome

Answer 4

Fibrillin 1 gene mutation
Autosomal dominant

Question 5

Features of Marfan’s syndrome

Answer 5

Bones: pectus carinatum/excavatum | marfanoid habitus | arachnodactylyl | pes planus | scoliosis
CV: dialted aortic root | aortic dissection | mitral disease
Joints: hypermobility
Skin/soft tissue: striae | recurrent hernias
Oral: high arched palate | crowded teeth
Ocular: upward lens dislocation
Other: spontaneous pneumothorax | lumbrosacral dural ectasia

Question 6

Features of Ehlers-Danlos syndrome

Answer 6

Bones: short stature | spinal deformity
CV: vascular fragility
Joints: hypermobility
Skin/soft tissue: skin fragility, atrophic scarring
Ocular: retinal detachment

Question 6

Features of osteogenesis imperfecta

Answer 6

Bone: multiple fractures in childhood | bone deformity
Joints: hypermobility
Skin: easy bruising
Oral: poor dentition
Ocular: blue sclera type 1form
Other: hearing loss

Question 7

What scoring system is used for hypermobility states

Answer 7

Beighton score

Dorsiflex the fifth MCP
Oppose the thumb to the volar aspect of ipsilateral forearm
Hyperextend elbow 10
Hyperextend knee 10
Place hands flat on floor without bending knees

Question 7

Aetiology of osteogenesis imperfecta

Answer 7

Mutation → type 1 collagen deficiency → affects bone, ligaments, teeth, sclerae, skin

Question 8

Management for Margan’s syndrome

Answer 8

MDT
Monitor for complications
Beta blockade
Consider surgery

Question 9

Management for Ehlers-Danlos

Answer 9

MDT
Classical: MDT, physio, orthotics, ortho, ophthal
hEDS: MDT, PoTS = salt and fluid
Vascular: surgery risky

Question 10

management for osteogenesis imperfecta

Answer 10

MDT
Bisphosphonates
Ortho/ENT input