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Y2 MSK > Connective tissue disorder > Flashcards

Connective tissue disorder Flashcards

1
Q

Inheritance pattern of Marfan syndrome

A

Autosomal dominant

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2
Q

Cause of Marfan syndrome

A

Mutation in fibrillin 1 gene

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3
Q

Presentation of Marfan syndrome

A

disproportionally tall and thin
unusually long arms and legs
Arachnodactyly (long fingers)
High arched palate
Pes planus
Pectus excavation

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4
Q

Marfan syndrome is associated with which cardiovascular conditions

A

Aortic regurgitation
Mitral valve prolapse
Aortic dissection
Aortic aneurysm

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5
Q

What is pectus excavation

A

When the ribs and sternum grows inward causing a caved-in chest appearance

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6
Q

What are the ocular conditions associated with Marfan’s syndrome

A

Superotemporal lens dislocation
Blue sclera
Myopia

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7
Q

MSK manifestations of Marfan syndrome

A

Hypermobility of joints
Protusio acetabuli
Pectus excavatum
Kyphoscoliosis

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8
Q

What is protusio acetabuli

A

medial displacement of the femoral head into the pelvis

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9
Q

What is kyphoscoliosis

A

deviation of the normal curvature of the spine in the sagittal (right left) and coronal (front back) planes

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10
Q

What sign is seen in Marfan syndrome

A

Wrist sign
Thumb sign

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11
Q

What is the wrist sign

A

asking the patient to grip his wrist with his opposite hand
If the thumb and fifth finger of the hand overlap with each other, the sign is positive

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12
Q

What is the thumb sign

A

distal phalanx of the adducted thumb extends beyond the ulnar border of the palm

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13
Q

Management of Marfan syndrome

A

Hypertension management
Surgery for aortic diseases

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14
Q

What drug is avoided in Marfan syndrome due to risk of aortic aneurysm / dissection

A

fluoquinolone

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15
Q

Risk factors of systemic lupus erythematosus (SLE)

A

Women
20-40 years old
Afro-Caribbean, Hispanic American, Asian, and Chinese ethnicity
Genetics

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16
Q

What genes are associated with SLE

A

HLA B8
HLA DR2
HLA DR3

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17
Q

SLE is an autoimmune disease. What type of hypersensitivity is SLE

A

Type 3

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18
Q

Since SLE is a type 3 hypersensitivity condition, how does it cause symptoms

A

Immune complex formation
Immune complex deposits at joints / skin / kidneys / nervous system causing inflammatory response

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19
Q

Pathophysiology of SLE

A
  1. Loss of immune regulation leading to increase in cell apoptosis
  2. Necrotic cells release nuclear antigens which act as auto-antigens
  3. B and T cells activated to produce auto-antibodies
  4. Form immune complexes with the auto-antigens
  5. The immune complexes deposit in various sites and trigger inflammation cascade when neutrophils or other antigen-presenting cells come into contact
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20
Q

Symptoms of SLE

A

Systemic upset - fever / malaise/ weight loss
Cutaneous involvement
MSK involvement
Other organ involvement

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21
Q

What are the cutaneous involvements in SLE

A

Photosensitive malar rash
Oral / nasal ulcers
Alopecia
Discoid rash
Raynauds phenomenon

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22
Q

Where does the photosensitive malar rash in SLE usually present on

A

butterfly shaped rash across both cheek
SPARING nasolabial folds

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23
Q

What are the variants of SLE

A

Subacute cutaneous lupus
Discoid lupus erythematosus

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24
Q

Presentation of subacute cutaneous lupus

A

Small erythematous lesions on neck, shoulder, chest, forearms
Spares the face

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25
Q

Presentation of discoid lupus erythematosus

A

Only discoid rash seen

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26
Q

What is discoid rash

A

scaly, erythematous, well demarcated rash in sun-exposed areas

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27
Q

What are the MSK involvement in SLE

A

Non erosive arthritis
Arthralgia
Myalgia
Jaccoud’s arthropathy

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28
Q

What kind of arthritis is seen in SLE

A

Morning stiffness > 30 minutes
At least 2 joints involved
Joint function not affected
Non-erosive

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29
Q

Differences between the arthritis seen in RA and SLE

A

Arthritis in SLE does not affect joint function whereas RA does

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30
Q

What is Jaccouds arthropathy

A

Non-erosive arthropathy causing deformity characterized by ulnar deviation of the 2nd to 5th fingers

Similar to deformities in RA but different

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31
Q

Difference between Jaccouds arthropathy and RA

A

Jaccouds is correctable by physical manipulation whereas RA isn’t
Jaccouds does not cause functional impairment whereas RA does

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32
Q

What are the other organ involvement in SLE

A

Renal
- nephritis
Heart
- pericarditis
- myocarditis
Lungs
- Pneumonitis
- Pleurisy
Neurological
- seizures, headaches, psychosis

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33
Q

Which heart condition is the most common cardiac manifestation in SLE

A

Pericarditis

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34
Q

What are the haemotological signs of SLE

A

Leucopenia
Haemolytic anemia
thrombocytopenia
Lymphadenopathy

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35
Q

What is the most common cause of lupus-related death

A

Nephritis

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36
Q

SLE follows a relapsing-remitting course. What can trigger acute flares of SLE symptoms

A

Oestrogen therapies
Overexposure to sunlight.
Infections
Stress

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37
Q

What infection can trigger SLE flare

A

Epstein-Barre

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38
Q

Investigations for SLE

A

Autoantibodies
Blood test
Urine dip stick test
Renal biopsy
Imaging / screen for other organ involvements

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39
Q

Which autoantibody is present in most patients with SLE but also present in other conditions

A

anti-ANA
rheumatoid factor

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40
Q

If Anti-ANA positive in a patient with suspected SLE, what should you do

A

Test for more autoantibodies that are more specific to SLE
Further investigations - bloods, urinalysis, imaging

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41
Q

Which autoantibodies are specific to SLE

A

Anti-dsDNA
Anti-Smith
Antiphospholipid antibodies (APLS)
Anti-Ro

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42
Q

Anti-dsDNA and Anti-Smith are high specific but

A

Low sensitivity
Because even though everyone who has it has SLE, not all SLE patients will have it

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43
Q

Which autoantibody correlates to SLE disease activity and lupus nephritis

A

anti-dsDNA
The higher the tire, the higher the disease activity and the worse lupus nephritis is

44
Q

What may be the blood test results for SLE

A

Leucopenia
Haemolytic anaemia
Low complement level - due to high use of complement system

45
Q

What may be the urine test result for SLE

A

proteinuria

46
Q

When is renal biopsy used in SLE

A

Positive urinalysis suggesting lupus nephritis
Use biopsy to confirm

47
Q

General lifestyle management for SLE

A

Sun protection
Minimize steroid use
Monitor disease activity using SLEDAI score
Avoid triggers - oestrogen / stress / overexposure to sunlight

48
Q

Drug management for mild SLE

A
  • Hydroxychloroquine
  • Short course of NSAIDs for symptomatic control
  • Intra-articular steroids for arthritis
  • Topical steroid for cutaneous involvement
49
Q

Drug management for moderate SLE (organ involvement without nephritis / CNS)

A

Hydroxychloroquine
Oral steroids or immunosuppressants during flares
Treat organ flares appropriately

50
Q

What immunosuppressants are used to treat flares of moderate SLE

A

Azathioprine
Methotrexate

51
Q

What oral steroid is used to treat flares of moderate SLE

A

Prednisolone

52
Q

Drug management for severe lupus (nephritis or CNS involved)

A

IV steroids
IV cyclophosphamide

53
Q

What are the side effects of long term steroids use

A

Osteoporosis
Cushing’s
Proximal myopathy
Avascular necrosis
Immunosuppression
Weight gain

54
Q

What is drug induced lupus

A

Milder form of SLE triggered by chronic use of certain drugs
Symptoms should resolve after stopping the drug

55
Q

Presentation of drug induced lupus

A

Systemic upset - fever / fatigue
Nonerosive arthritis
Arthralgia
Pleurisy
Pericarditis

56
Q

Differences between drug induced lupus and SLE

A

Drug induced lupus does not usually present with malar rash or nephritis
Drug induced lupus occurs in females and males equally whereas SLE mostly occurs in females
Drug induced lupus does not have SLE specific autoantibodies

57
Q

Causes of drug induced lupus (SHIPP)

A

Sulfasalazine
Hydralazine
Isoniazid
Procainamide
Penicillamine

58
Q

Investigations for drug induced lupus

A

Autoantibodies
Bloods

59
Q

Difference in autoantibodies present in drug induced lupus vs SLE

A

DIL may be anti-ANA positive as well but it will not have SLE specific autoantibodies (anti-smith / anti-dsDNA)

DIL may be anti-histone positive

60
Q

Which auto-antibody is specific for DIL

A

anti-histone

61
Q

What is sjogren’s syndrome

A

Inflammatory autoimmune disorder characterised by decrease lacrimal and salivary secretion

62
Q

Cause of sjogren’s syndrome

A

Lymphocyte-mediated autoimmune destruction of exocrine glands

63
Q

Which type of hypersensitivity is Sjogren’s syndrome part of

A

Type 4

64
Q

Risk factors for Sjogren’s

A

Female
Middle age
Autoimmune conditions (causes secondary Sjogren’s)

65
Q

Which conditions are associated with secondary Sjogren’s

A

SLE
RA
Systemic sclerosis
Autoimmune thyroiditis
Autoimmune hepatitis
Primary biliary cirrhosis

66
Q

Signs of Sjogren’s syndrome

A

Dry, red eyes
Dry mouth
Vaginal dryness
Dry throat
Non-erosive symmetrical polyarthritis
Raynaud’s
Cutaneous vasculitis
Fatigue, fever

67
Q

Dry eyes can lead to

A

bacterial conjunctivitis (tears are supposed to wash away bacteria so dry eyes increases risk of infection)

68
Q

Dry mouth can lead to

A

Dental caries
Oral candidiasis

69
Q

Dry throat can lead to

A

Dysphagia
Oesophagitis

70
Q

Sjogren’s classic signs

A

dry mouth and eyes

71
Q

Presentation of cutaneous vasculitis in Sjogren’s

A

skin ulcers
purpura - red or purple non blanching spots on skin

72
Q

Investigations for Sjogren’s

A

Autoantibodies
Blood
Schimers test
Salivary flow rate
Salivary gland biopsy

73
Q

What is Schimer’s test

A

Use strip of filter paper on lower eyelid
wetting <5mm = positive (reduced tear)

74
Q

Autoantibodies present in Sjogren’s

A

anti- ANA (non-specific)
Rheumatoid factor (non-sepcific)
anti-Ro (non-specific)
anti-LA (specific but not sensitive)

75
Q

Management of Sjogren’s

A

Artificial tears (hypromellose)
Artificial saliva
Topical lubrication for vaginal dryness
Hydroxychloroquine for arthritis

76
Q

Why should patients with Sjogren’s be investigated promptly if they develop a lymphadenopathy

A

Because Sjogren’s increases risk of B cell lymphoma in glands and organs

77
Q

Complications of Sjogren’s

A

Interstitial lung disease
Renal disease
Seizures
Lymphoma

78
Q

What is used if interstitial lung disease / renal disease develop in a patient with Sjogren’s

A

Immunosuppressants

79
Q

Risk factors for systemic sclerosis

A

Females
30-50 years old
Genetic predisposition
Environmental triggers

80
Q

What is systemic sclerosis

A

Autoimmune disease causing fibrosis in skin and organ

81
Q

Types of systemic sclerosis

A

Limited cutaneous systemic sclerosis
Diffuse cutaneous systemic sclerosis

82
Q

What is limited cutaneous systemic sclerosis

A

Skin fibrosis only occur in face, hands, feet, forearms and organ involvement occurs later on

83
Q

Characteristics of limited systemic sclerosis (S CREST)

A

Skin fibrosis
Calcinosis
Raynaud’s phenomenon
oEsophageal dysmotility - dysphagia / gord
Sclerodactyly
Telangiectasia

84
Q

What is sclerodactyly

A

Bright shiny skin of hands and feet (due to build up of fibrous tissue)
With reduced mobility and function

85
Q

What sign cannot be done by patients with sclerodactyly

A

Prayer sign due to reduced mobility

86
Q

What is calcinosis

A

Calcium deposits under the skin / muscles

87
Q

Skin fibrosis of limited cutaneous sclerosis only occurs on

A

Hands
Forearns
Feet
Face

88
Q

What symptom usually occurs before any others in limited systemic sclerosis

A

Raynaud’s

89
Q

Investigation for limited cutaneous systemic sclerosis

A

Autoantibodies

90
Q

Which autoantibody is specific to limited cutaneous systemic sclerosis

A

Anti-centromere antibodies

91
Q

Characteristics of diffuse cutaneous systemic sclerosis

A

Vasculopathy
Fibrosis of widespread areas of skin and internal organs

92
Q

Presentation of skin fibrosis in systemic sclerosis

A

Lack of wrinkles
Hypo/hyperpigmented / shiny
Flexion contractures (cannot be fully straightened or extended)
Microstomia
Puckered lips
Telangiectasia

93
Q

What is microstomia

A

Restricted mouth opening

94
Q

Describe the progression of diffuse systemic sclerosis

A

Faster than limited systemic sclerosis
1. Joint contractures
2. Skeletal myopathy
3. Interstitial lung disease
4. Myocardial involvement
5. Renal crisis

95
Q

What does raynaud cause and why

A

Ischaemic digital ulcers because of vascular spasms during triggers, reducing blood supply to fingers.

96
Q

Autoantibodies present in diffuse systemic sclerosis

A

Anti-SCL-70
Anti-RNA-polymerase III

97
Q

Differences between diffuse and limited systemic sclerosis

A

Limited only affects face, hand, feet, forearms whereas diffuse affects everywhere
Limited has later organ involvement whereas diffuse has early organ involvement
Limited has anti-centromere antibodies whereas diffuse has anti-scl-50 and anti-RNA polymerase III

98
Q

What are the cardiovascular features in systemic sclerosis

A

Pericarditis
Myocarditis
Myocardial fibrosis -> HF and arrhythmias
RVF (due to pulmonary hypertension)

99
Q

What are the pulmonary features in systemic sclerosis

A

Pulmonary hypertension
Interstitial lung disease

100
Q

What can be heard on auscultation in patient with interstitial lung disease

A

Bilateral fine inspiratory crackles

101
Q

What are the renal features in systemic sclerosis

A

Renal dysfunction due to vasculopathy and fibrosis
Scleroderma renal crisis

102
Q

What is scleroderma renal crisis

A

Uncontrolled hypertension + proteinuria + rapidly worsening renal function

103
Q

Management of systemic sclerosis

A

Monitor regularly
Smoking cessation
Avoid triggers for Raynaud’s
Specific to issues

104
Q

What should be monitored regularly in patients with systemic sclerosis

A

Blood pressure
Renal function
Echo
Spirometry

105
Q

What can be used to treat Raynaud’s

A

Nifedipine (CCB)

106
Q

Which vaccines should not be given to immunosuppressed patients

A

Yellow fever
MMR
Smallpox
Rotavirus

Y2 MSK (19 decks)

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