The Musculoskeletal System > Connective Tissue Diseases > Flashcards

Connective Tissue Diseases Flashcards

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1
Q

The term connective tissue disease refers to which conditions?

A
  1. SLE
  2. Sjogrens
  3. Systemic sclerosis
  4. Mixed connective tissue disease
  5. Anti-phospholipid syndrome
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2
Q

Connective tissue diseases tend to be _______ _________ disorders

A

Multi system

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3
Q

What is SLE?

A

A chronic autoimmune condition with variable presentation.

It may involve almost any organ system, but most commonly the skin, joints, kidneys, blood cells and nervous system

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4
Q

What is the basic pathogenesis of SLE?

A
  1. Defect in apoptosis
  2. Increased cell death
  3. Disturbance in immune tolerance
  4. Defective clearance of cell debris
  5. Persistence of antigen and subsequent immune complex formation
  6. Immune complexes can be deposited in small vessels or in the basement membranes of the skin and kidneys causing complement activation and inflammation
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5
Q

In which ethnic background is SLE highest in within the UK/US?

A

Afro-carribean

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6
Q

Which sex is SLE most common in?

A

Females

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7
Q

At what age is the normal onset of SLE?

A

20-30

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8
Q

What are the non-specific symptoms of SLE?

A
  1. Weight loss
  2. Fever
  3. Fatigue
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9
Q

What are the typical musculoskeletal symptoms of SLE?

A
  • Arthralgia
  • Myalgia
  • Inflammatory arthritis
  • Avascular necrosis (may relate to steroid use)
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10
Q

What are the muco-cutaneous symptoms of SLE?

A
  • Malar rash (butterfly rash)
  • Photosensitivity
  • Discoid lupus
  • Subacute cutaneous lupus
  • Oral/nasal ulceration
  • Raynaud’s
  • Alopecia
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11
Q

What are the renal symptoms of SLE?

A

Lupus nephritis

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12
Q

What are the respiratory symtpoms of SLE?

A
  • Pleurisy
  • Pleural effusion
  • Pneumonitis
  • Pulmonary effusion
  • Pulmonary hypertension
  • Interstitial lung disease
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13
Q

What are the haematologicl symptoms of SLE?

A
  • Leukopenia
  • Lymphopenia
  • Anaemia (potentially haemolytic)
  • Thrombocytopenia
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14
Q

What are the neuropsychiatric symtpoms of SLE?

A
  • Seizures
  • Psychosis
  • Headache (migraine)
  • Aseptic meningitis
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15
Q

What are the cardiovascular symptoms of SLE?

A
  • Pericarditis
  • Myocarditis
  • Endocarditis (Libman-Sacks (sterile endocarditis))
  • Pericardial effusion
  • Accelerated ischaemic heart disease
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16
Q

What are the GI symptoms of SLE?

A
  • Autoimmune hepatitis
  • Pancreatitis
  • Mesenteric vasculitis
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17
Q

Which tests are useful for SLE?

A
  1. FBC
  2. ANA
  3. Anti-dsDNA
  4. Anti-Sm
  5. Anti-Ro, Anti-La, Anti-RNP
  6. C3/C4 levels (low)
    7.
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18
Q

Why is urinalysis a useful test in SLE?

A

To look for evidence of glomerulonephritis

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19
Q

Which imaging modalities can be used for SLE?

A
  • CT (chest)
  • MRI (cerebral vasculitis)
  • Echo (heart abnormalities)
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20
Q

How can skin disease and arthralgia be treated in SLE?

A

Hydroxychloroquine

Topical steroids and NSAIDs

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21
Q

If there is inflammatory arthritis or some systemic organ involvement in SLE, which treatment may be considered?

A

Immunosuppression with (usually) either azathioprine or mycophenolate mofetil

Corticosteroids

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22
Q

In severe organ disease associated with SLE what does treatment involve?

A

Cyclophosphamide

IV steroids

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23
Q

Which treatments may be considered in unresponsive cases of SLE?

A

IV immunoglobulin

Rituximab

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24
Q

Why is it common practice to reguarly measure anti-dsDNA and complement levels in SLE?

A

These vary with disease activity and hence, can give some warning of disease flare

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25
Why is urinalysis a useful test for SLE and what is it checking for?
It can check for red cell casts or protein which may indicate glomerulonephritis
26
Why should blood pressure and cholesterol be reguarly monitored in SLE?
Risk of cardiovascular disease is elevated It is one of the main causes of mortality in SLE
27
What is Sjogren's syndrome and how is it characterised?
An autoimmune condition charactised by lymphocytic infiltrates in exocrine organs
28
What are the typical symptoms of Sjogren's syndrome?
* Sicca symptoms (dryness of eyes and mouth) * Arthralgia * Fatigue * Vaginal dryness * Parotid land swelling
29
# One involves the nervous system, one involves the respiratory system and one is a type of cancer that that has a much higher risk in such patients What are three other symptoms associated with Sjogren's syndrome?
1. Peripheral neuropathy 2. Interstitial lung disease 3. Lymphoma (increased risk of)
30
What is the diagnosis of Sjogren's syndrome based on? (3)
1. Ocular dryness (Schrimer's test) 2. Positive anti-Ro and anti-La 3. Typical features on a lip gland biopsy
31
Which medication can stimulate saliva production in SLE, and what is a common side effect?
Pilocarpine Flushing
32
What other medications may be used in SLE and why might they be used?
* Lubricating eye drops and saliva replacement * Pilocarpine - saliva stimulation * Hydroxychloroquine - may help with arthralgia and fatigue * Immunosuppression - only be used with other organ involvement
33
What is systemic sclerosis?
A systemic connective tissue disease
34
What are the characteristics of systemic sclerosis?
* Vasomotor disturbances (Raynaud's) * Fibrosis and subsequent atrophy of the skin and subcutaneous tissue * Excessive collagen deposition can cause skin and internal organ changes
35
What is genrally responsibel for death in patients with systemic sclerosis?
Renal and lung (e.g. pulmonary hypertension) changes
36
Which common early finding of systemic sclerosis is rarely absent in the condition?
Raynaud's phenomenon
37
How many phases does cutaneous involvement of systemic sclerosis have and what are the phases?
3 Phases 1. Oedematous 2. Indurative 3. Atrophic
38
Features of systemic sclerosis can be divided into major and minor features. Give examples of each
1. **Major** - centally located skin lesions that affect the arms, afce and/or neck 2. **Minor** - Sclerodactaly and atrophy of the fingertips, bilateral lung fibrosis A diagnosis can be made when a patient has 1 major and 2 minor features
39
When the skin of the face is affected in systemic sclerosis, this can cause __________ of the nose (\_\_\_\_\_\_\_\_\_) and _____________ of the skin around the mouth. _____________ are also seen
When the skin of the face is affected in systemic sclerosis, this can cause **pinching** of the nose (**beaking**) and **tightening** of the skin around the mouth. **Telangestasia** are also seen
40
Besides sclerodactyly, what else can be seen in the digits in systemic sclerosis?
Calcinosis | (subcutaneous deposits of calcium)
41
What are the common body systems to be most affected by systemic sclerosis?
1. Respiratory (pulmonary hypertension, fibrosis) 2. Cardiovascular (hypertension) 3. Renal (failure due to hypertension) 4. GI (dysphagia, malabsorption, bacterial overgrowth of the small bowel) Inflammatory arthritis and myositis may also be seen
42
How is systemic sclerosis classed?
1. Limited form 2. Diffuse form
43
Describe limited systemic sclerosis
Skin involvement is generally limited to the face, hands and forearms as well as the feet Organ involvement occurs later
44
Describe diffuse systemic sclerosis
Skin changes come on more rapidly and tend to involve more areas including the trunk and arms There is significant and early organ involvement
45
Which antibody is associated with limited systemic sclerosis?
Anti-centromere
46
What antibody is associated with diffuse systemic sclerosis?
Anti-Scl-70
47
Which types of ongoing screening is performed reguarly for systemic sclerosis?
* Pulmonary function tests * Echo * Monitoring of renal function
48
How can Raynaud's phenomenon be treated?
* Calcium channel blockers * Iloprost (synthetic of prostacyclin) * Bosentan (endothelin receptor antagonist) * Sildenafil (viagra)
49
Renal involvement associated with systemic sclerosis can be treated with what?
ACE inhibitors | (to lower blood pressure)
50
Interstitial lung disease associated with systemic sclerosis is usually treated with which drug?
Cyclophosphamide (immunosuppressant)
51
Mixed connective tissue disease is associated with which antibody?
Anti-RNP
52
Which screening tests should take place reguarly in those with mixed connective tissue disease?
1. Echocardiograms (risk of pulmonary hypertension) 2. Pulmonary function tests (high chance of ILD)
53
How does anti-phospholipid syndrome manifest clinically?
Recurrent venous or arterial thromobosis Fetal loss (after 10 weeks, or multiple embryonic losses)
54
APS can occur with no evidence of associated disease (primary) or it can occur subsequent to another disease (secondary). Which disease may it occur as a result of?
SLE (or other rheumatic or autoimmune disorder)
55
In younger individuals, APS may increase the frequency of which two things?
1. Stroke 2. MI
56
Why may strokes develop in APS?
Secondary to in-situ thrombosis or embolisation from vascular lesions of Libman-Sacks (sterile) endocarditis
57
Why may pulmonary hypertension occur in APS?
Recurrent pulmonary emboli or thrombosis
58
What is a rare, yet very serious and often fatal (50%) manifestation of APS?
Catastrophic APS (CAPS) This is characterised by multiorgan failure over a period of days-weeks
59
Late spontaneous foetal loss associated with APS is \_\_\_\_\_\_\_\_
Late spontaneous foetal loss associated with APS is **common**
60
What is a common dermatological feature of APS?
Livedo reticularis
61
Which blood investigations are relevant for APS?
1. aPTT 2. Thrombocytopenia 3. Antibodies
62
Which antibodies are associated with APS?
1. Anti-cardiolipin 2. Lupus anticoagulant 3. Anti-beta 2 glycoprotein
63
For those with an episode of thrombosis, what is the treatment for APS?
Warfarin | (lifelong)
64
For those who have had an episode of thrombosis but are preganant, what is the treatment?
Low molecular weight heparin | (warfarin is teratogenic)
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