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MsK > Red PTS STUFF > Flashcards

Red PTS STUFF Flashcards

1
Q

What is Polymyalgia rheumatica

A

common systemic inflammatory disease that is one of the most common indications for long-term steroids. It is characterised by myalgia and muscles stiffness with preponderance to the neck, shoulder and pelvic girdle.

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2
Q

Who is affected by polymyalgia rheumatica

A
  • usually affects old adults 70-80
  • more common in women 2-3 times
  • more common in caucasian
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3
Q

What causes poly myalgia rheumatica

A

-a pro-inflammatory response with elevated levels of IL-6,
-an increase in certain T-cell subsets
-subclinical arterial inflammation in some patients.

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4
Q

Genetic and environmental factors for aetiology of PMR

A

Genetic: PMR, like GCA, has been associated with several human leucocyte antigen (HLA) alleles (e.g. HLA-DR4).

Environmental: the cyclical pattern of cases and peak incidence in winter months suggests an infectious trigger.

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5
Q

Predominant sites of inflammation for PMR

A

Head
Neck
Pelvic girdle

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6
Q

Pathophysiology of PMR

A

Despite the site of inflammation, patients still present with generalised muscle stiffness and pain, particularly in the shoulder and pelvic girdles that lasts more than 45 mins

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7
Q

Characteristic sites in the upper and lower extremities associated with PMR:

A

Shoulder girdle: subdeltoid/subacromial bursitis and biceps tenosynovitis.

Pelvic girdle: bursae around the greater trochanters and ischial processes. liopectineal and iliopsoas bursitis. Hamstring tendinitis and hip synovitis.

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8
Q

Symptoms of PMR

A

Bilateral shoulder and/or hip girdle pain
Stiffness and upper limb tenderness: particularly mornings
Systemic features: low-grade fever, fatigue, weight loss
Low mood
Peripheral symptoms

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9
Q

Signs of PMR

A

Reduced range of movement: shoulder, cervical spine, and hips
Inability to abduct shoulders past 90º
Synovitis and swelling
Motor exam:

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10
Q

GCA and PMR

A

10% of patients with PMR will develop GCA. Therefore, it is essential to assess for features of GCA including unilateral headache, visual changes, jaw claudication, temporal artery tenderness, scalp pain and constitutional symptoms.

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11
Q

What is the criteria for a Diagnosis of PMR

A

Age: 50 years or older at disease onset
Typical symptoms: bilateral, symmetrical shoulder and/or hip girdle pain associated with stiffness
Duration: > 2 weeks and lasting > 45 minutes at a time
Elevated inflammatory markers (ESR/CRP): supportive, but diagnosis can be made if normal
Rapid resolution of symptoms with corticosteroids: patient-reported global improvement of 70% or more within a week

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12
Q

Atypical features of pmr

A

Younger age of onset
Significant weight loss
Night pain
Neurological findings
Absence of core symptoms
Normal, or markedly elevated, inflammatory markers
Chronic onset

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13
Q

Investigations of pmr

A

FBC
UE
LFT
Autoimmune screen
Chest and shoulder x ray

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14
Q

Management of PMR

A

Start on oral prednisolone 15mg daily
After initiation - prednisolone should be reduced once symptoms are fully controlled - usually after a period of 3-4 weeks

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15
Q

Steroid - related complications of pmr

A

Steroid-induced hyperglycaemia,
mood changes
, insomnia,
gastrointestinal bleeding,
immunosuppression,
weight gain,
cushingoid appearance,

and adrenal cortex suppression.

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16
Q

Prognosis of PMR

A

Up to 45% of patients may not respond to steroids within the first 3-4 weeks of treatment and a more extended course of steroids may be needed.

Thankfully, there is no increased mortality associated with PMR, but relapse is common and patients may develop morbidity associated with side-effects from corticosteroids.

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17
Q

What is Pagets?

A

A chronic bone disorder that is characterised by focal areas of increased bone remodelling, resulting in overgrowth of poorly organised bone.

Excessive osteoblastic resorption followed by increased osteoblastic activity

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18
Q

Epidemiology of Pagets

A
  • Typically affects older people (rare in under-40s)
  • Commoner in temperate climates and anglo-saxons
  • UK has highest prevalence in the world
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19
Q

Aetiology of Pagets

A
  • Can be triggered by infections e.g. measles virus
  • Linked to genetic mutations e.g. SQSTM1
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20
Q

RF for Pagets

A
  • Family history
  • Age >50 years
  • Infection
  • male
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21
Q

Stereotypical presentation of pagets?

A

Older male with bone pain and an isolated raised ALP

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22
Q

clinical manifestations of Pagets

A

-Bone Pain
-Hearing loss
- friction
Kyphosis - curved spine
Pelvic assymetry
Bowlegs

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23
Q

Investigation for Pagets

A

Plain X-ray
Bone scan
Total serum alkaline phosphotase

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24
Q

Management for Pagets

A
  • Pain relief
    • NSAIDs
  • Anti-resorptive medication - Biphosphonates e.g. alendronic acid
    • Along with calcium and vit D supplementation
  • Surgery -
    • Correct bone deformities
    • Decompress impinged nerve
    • Decrease fracture risk
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25
Q

Monitoring Pagets

A

-Check the serum alkaline phosphatase (ALP) and review symptoms.

-Effective treatment should normalise the ALP and eliminate symptoms.

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26
Q

Complications for Pagets

A

Paget’s sarcoma (osteosarcoma)
Spinal stenosis and spinal cord compression
- Fractures
- Vision loss
- Hearing loss
- Arthritis - if any joint involvement

27
Q

Definition of osteomalacia

A

Osteomalacia is a metabolic bone disease characterised by incomplete mineralisation of the underlying mature organic bone matrix (osteoid) following growth plate closure in adults.

This results in softening of the bones.
Results in rickets in children and osteomalacia in adults

28
Q

Epidemiology of osteomalacia

A
  • In the developed world, it is estimated that 40% of individuals over the age of 50 years are vitamin D deficient; this is the most common cause of osteomalacia.
  • Fortification of foods with vitamin D and the use of vitamin supplements has greatly reduced the incidence of osteomalacia in the Western world.
29
Q

Aetiology of osteomalacia

A
  • Vitamin D
  • Calcium
  • Phosphate
30
Q

RFs for osteomalacia

A
  • Limited exposure to sunlight
  • Dark skin
  • Dietary vitamin D deficiency
    CKD
    Vit D resistance
    Liver dysfunction
    Malabsorption
    Tumour induced
31
Q

Vit D activation

A

itamin D requires activation by the liver (25-hydroxylation) and then by the kidney (1-alpha-hydroxylation/ calcitriol). Active vitamin D raises serum calcium and phosphate by increasing intestinal absorption, as well as resorption from the bone and kidney. These electrolytes then contribute to bone mineralisation.

32
Q

What does parathyroid hormone do

A

Stimulates resorption of Ca2+ and phosphate from bone,
increases Ca2+ reabsorbtion and phosphate excretion from kidneys
also boosts 1-alpha-hydroxylase activity
causing increased levels of vit D.

33
Q

Pathophysiology of osteomalacia

A

Osteomalacia is primarily caused byvitamin D deficiencywhich can be due to reduced sunlight exposure, poor nutrition, malabsorption, liver failure, and renal failure

34
Q

Signs of osteomalacia

A

Osteomalacia is primarily caused byvitamin D deficiencywhich can be due to reduced sunlight exposure, poor nutrition, malabsorption, liver failure, and renal failure. Occasionally osteomalacia can be caused by hypophosphataemia due to inborn errors in metabolism.

35
Q

Symptoms of osteomalacia

A
  • Generalised bone pain: rib, hip, pelvis, thigh and foot pain are typical
  • Proximal muscle weakness
  • Difficulty walking upstairs
  • Muscle spasms and numbness due to hypocalcaemia
  • Fracture: often secondary to mild trauma, most commonly affecting the long bones
36
Q

Primary investigation for osteomalacia

A

Serum 25-hydroxy vitamin D

37
Q

GS investigation for osteomalacia

A

Iliac bone biopsy with double tetracycline labelling

38
Q

DD for osteomalacia

A
  • Osteoporosis
  • Paget’s disease
39
Q

tREATMENT OF OSTEOMALACIA

A

Treat underlying cause
Calcium D3 given if dietary insufficiency

40
Q

If there is malabsorption or hepatic disease what do you do?

A

itamin D2 (ergocalciferol) or IM calcitriol. If renal disease of vitamin D resistance, then give alfacalcidol or calcitriol

41
Q

Monitoring osteomalacia

A

Monitor plasma Ca2+, initially weekly, and nausea and vomiting.

42
Q

Consequences of osteomalacia

A
  • Insufficiency fracture
  • Complications of treatment:hypercalcaemia, hyperphosphataemia
  • Secondary hyperparathyroidism
43
Q

Prognosis of osteomalacia

A

The prognosis of patients with osteomalacia is generally very good but is dependent on the underlying cause.

Rickets and osteomalacia normally respond rapidly to vitamin D replacement, which manifests as increased mobility and muscle strength

44
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.

45
Q

Rf for EDS

A

fAMILY HISTORY - AUTOSOMAL dominant is the most common subytype

46
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.

47
Q

Classical Ehlers-Danlos syndrome is caused by

A
  • Classical Ehlers-Danlos syndrome
    • Caused by mutation in COL5A1 and COL5A2 genes
    • Passed on by autosomal dominant inheritance
48
Q

Vascular Ehlers-Danlos syndrome is caused by ?

A
  • Mutation in COL3A1
  • Decrease in type III collagen weakens blood vessels
  • Most dangerous due to risk of aneurysms and aortic and organ rupture
49
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
50
Q

Clinical manifestations of EDS

A

Musculoskeletal

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

Skin

  • Hyperelasticity
  • Easy bruising
  • Atrophic skin
51
Q

Investigations for ehd

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
52
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
53
Q

Complications of ehd

A

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

Aortic dissection

Abdominal aortic aneurysms

Organ rupture
Subarachnoid haemorrhage

Angioid retinal streaks

Gastro-oesophageal reflux disease

Depression and anxiety

54
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.

55
Q

What is Marfans Syndrome

A

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

56
Q

Epidemiology of Marfans

A

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

57
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.

BN1 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

58
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)
- Flexible joints (hypermobility)
- ocular lens sublixation
- aortic dissection
- skin striae
- diral ectasia

59
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
60
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
61
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
62
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.
63
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
64
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.

MsK (14 decks)

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