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MSK > 2nd half of red > Flashcards

2nd half of red Flashcards

1
Q

What is Ehlers-Danlos Syndrome

A

group of connective tissue disorders caused by mutations of connective tissue proteins, with collagen being the most commonly affected.

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2
Q

Rf for EDS

A

fAMILY HISTORY - AUTOSOMAL dominant is the most common subytype

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3
Q

What does EDS lead to

A

Weakened connective tissue in the skin, bones, blood vessels, and organs, which accounts for the numerous features of the disorder.

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4
Q

Classical Ehlers-Danlos syndrome

A
  • Classical Ehlers-Danlos syndrome
    • Caused by mutation in COL5A1 and COL5A2 genes
    • Passed on by autosomal dominant inheritance
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5
Q

Vascular Ehlers-Danlos syndrome

A
  • Mutation in COL3A1
  • Decrease in type III collagen weakens blood vessels
  • Most dangerous due to risk of aneurysms as well as aortic and organ rupture
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6
Q

Autosomal recessive EDS

A
  • Classical-like Ehlers-Danlos Syndrome
    • Mutation in gene that encodes TNXB (causes defect in protein called tenascin X)
      • Tenascin-X provides flexibility and also plays a role in regulating production and assembly of certain types of collagen
  • Kyphoscoliotic Ehlers-Danlos syndrome
    • Insufficient lysyl hydroxylase
  • Musculocontractural Ehlers-Danlos syndrome
    • Defect in collagen peptidase
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7
Q

Clinical manifestations of EDS

A

Musculoskeletal

  • Joint hypermobility and pain
  • Recurrent dislocation
  • Scoliosis and spinal pain

Skin

  • Hyperelasticity
  • Easy bruising
  • Atrophic skin
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8
Q

Investigations for EDS

A
  • Examine joints and skin
  • Genetic testing to identify mutation
  • Echocardiogram:assess for mitral valve prolapse and aortic root dilatation
  • Spine X-ray:evidence of scoliosis or spondylolisthesis (vertebral misalignment); usually required in patients with spinal pain or scoliosis on examination
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9
Q

Management for EDS

A
  • Physiotherapy
  • Orthopaedic instrument e.g. bracing, wheelchair and casting
  • Lifestyle advice: avoid contact sports and heavy labour to reduce the risk of tissue damage and joint dislocation
  • Analgesia
  • Psychological input: due to chronic pain and the impact on quality of life, patients may develop mental illness
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10
Q

Complications

A

Mitral valve prolapse: mid-systolic click and late-systolic murmur

Aortic dissection

Abdominal aortic aneurysms

Organ rupture
Subarachnoid haemorrhage

Angioid retinal streaks

Abdominal hernia

Gastro-oesophageal reflux disease

Degenerative arthritis due to recurrent joint dislocation

Depression and anxiety

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11
Q

What is Marfans syndrome

A

genetic disorder that results in defective connective tissue. This can affect the skeleton, heart, blood vessels, eyes and lungs.

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12
Q

Epidemiology of Marfans

A

he incidence in the European population is estimated to be 3 in 10,000.

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13
Q

Pathophysiology if Marfan’s

A
  • Marfan syndrome is caused by mutations in a gene called FBN1 (fibrillin 1) on chromosome 15. This is autosomal dominant.
  • FBN1 gene encodes fibrillin 1 protein. In Marfan syndrome, fibrillin 1 is either dysfunctional or less abundant, which results in fewer functional microfibrils. This also means there is less tissue integrity and elasticity.
  • Additionally, TGF-beta doesnt get successfully sequestered so TGF-beta signalling is excessive in these tissues = more growth
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14
Q

Clinical features of Marfans

A

Features might not always be there

  • Tall stature, long arms and long legs due to excessive long bone growth
  • Arachnodactyly - long fingers and toes
  • Pectus excavatum (chest sinks in) or pectus carinatum (chest points out)
  • Scoliosis
  • Inability to extend elbows to 180 degrees
  • Flexible joints (hypermobility)
  • Downward slant of the eyes
  • Narrow high-arch palate - crowds teeth
  • Stretch marks
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15
Q

Investigations for Marfans

A

Diagnosis is based on clinical features (diagnose if >2 features)

  • Lens dislocation
  • Aortic dissection/ dilation
  • Dural ectasia - widening of the dural sac
  • Skeletal features e.g. long arms, arachnodactyly
  • Pectus deformity
  • Scoliosis
  • Pes planus - flat feet
    MRI
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16
Q

DDs of MARFANS

A
  • Ehlers-Danlos syndrome
  • Erdheim’s deformity - presents with dilation of aortic root
  • Homocystinuria - body cannot process amino acids properly. Presents similar to Marfan syndrome
17
Q

General Management for Marfans

A
  • Physiotherapy can be helpful in strengthening joints and reducing symptoms arising from hypermobility.
  • Genetic counselling is important in considering the implications of having children that may be affected by the condition
18
Q

Eye and CVD related management for Marfans

A

Eye-related

  • Replacement of dislocated lens with artificial lens

Cardiovascular-related

  • Lifestyle changes, such as avoiding intense exercise and avoiding caffeine and other stimulants - minimise stress to help cardiac complications
  • Beta blockers can also be used to stop aortic dilation
  • Angiotensin receptor blocker e.g. losartan - decreases tgf-beta signalling and can also decrease aortic dilation
  • Surgical repair of wide aorta.
19
Q

Complications for Marfans

A
  • Retinal detachment and lens dislocation
  • Joint dislocations and pain due to hypermobility
  • Bulla formation on lungs - leading to pneumothorax
  • Cardiovascular:
    • Aortic dilation causing aortic valve insufficiency
    • Cystic medial necrosis (tunica media of aortic wall degenerates)
    • Increased risk of aortic dissection, aneurysm and rupture
    • Mitral valve prolapse
    • Aortic valve prolapse
20
Q

Prognosis of Marfans

A

The average life expectancy used to be only 32 years but, due to early surgery, it is now approaching that of the general population.

Long-term survival is excellent with beta-blocker control and surgery when indicated. **Once aortic dissection occurs, survival is considerably reduced to between 50% and 70% at 5 years.

21
Q

What do we mean by mechanical

A

Mechanical means that the source of the pain may be in your spinal joints, discs, vertebrae, or soft tissues.

22
Q

Epidemiology of mechanical back pain

A

Common in young people: 20-55 years

23
Q

Aetiology of mechanical back pain

A
  • Strain
  • Heavy manual handling
  • Stooping and twisting whilst lifting
  • Pregnancy
  • Trauma
  • Lumbar disc prolapse
  • Spondylolisthesis (one vertebrae slips out of place causing back pain)
  • Osteoarthritis
  • Fractures
  • Exposure to whole body vibration
24
Q

RF for mechanical back pain

A
  • Female
  • Increasing age
  • Pre-existing chronic widespread pain - fibromyalgia
  • Psychosocial factors e.g. high levels of psychological distress, poor self-rated health, smoking and dissatisfaction with work
25
Q

Physiology of mechanical back pain

A

Spinal movement occurs at the disc and the posterior facet joints - stability is normally achieved by a complex mechanism of spinal ligaments and muscles. Any of these structures may be a source of pain.

26
Q

Where do the main lesions occur

A

in an intervertebral disc - a fibrous structure whose tough capsule inserts into the the rim of the adjacent vertebra. This capsule encloses a fibrous outer zone and a gel-like inner zone

Disc allows rotation and bending

27
Q

When do changes in discs start?

A
  • occasionally start in teenage years or early twenties and often increase with age
  • The gel changes chemically, breaks up, shrinks and loses its compliance
  • The surrounding fibrous zone develop circumferential or radial issues
28
Q

What happens when discs become thinner and less compliant

A
  • These changes cause circumferential bulging of the intervertebral ligaments
  • Reactive changes develop in adjacent vertebrae; the bone becomes sclerotic and osteophytes form around the rim of the vertebra
29
Q

Most common site for lumbar spondylosis

A

L5/S1 & L4/L5

30
Q

Spondylosis (mostly symptomless) but can cause

A
  • Episodic spinal pain
  • Progressive spinal stiffening
  • Facet joint pain
  • Acute disc prolapse, with or without nerve irritation
  • Spinal stenosis
31
Q

Facet Joint Syndrome

A
  • Lumbar spondylosis causes secondary osteoarthritis of the misaligned facet joints
  • Pain is typically worse on bending backwards and when straightening from flexion - it is lumbar in site, unilateral or bilateral and radiates to the buttock
  • Facet joints are well seen on MRI and may show osteoarthritis, an effusion or a ganglion cyst
  • Treatment consists of direct corticosteroid injections under imaging
  • Physiotherapy and help to reduce weight may also be offered
32
Q

Fibrositic nodulosis

A
  • There are tender nodules in the upper buttock and along the iliac crest
  • This condition causes unilateral or bilateral lower back and buttock pain
  • Local intralesional corticosteroid injections may help
33
Q

Clinical manifestations of mechanical lower back pain

A
  • Stiff back
  • Scoliosis
  • Muscular spasm
  • Pain worse in the evening
34
Q

Investigations for mechanical lower back pain

A
  • MRI - imagine modality of choice. Can see disc prolapse, cord compression, cancer, infection or inflammation.
  • Bone scans
  • Examine patient to exclude pathologies e.g. nerve root lesions affecting reflexes
  • Spinal X-rays
35
Q

Differential diagnossi for mechanical lower back pain

A
  • Polymyalgia rheumatica (PMR): in elderly, ESR and CRP will distinguish this from mechanical back pain
  • Sinister causes of back pain e.g. malignancy, infection or inflammatory causes. Must be excluded with spinal x-ray.
36
Q

Management for mechanical lower back pain

A
  • Analgesics - NSAIDs paracetamol, codeine
  • Acupuncture
  • Avoid excessive rest
  • Comfortable sleeping postions

MSK (20 decks)

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