connective tissue diseases Flashcards

1
Q

who is affected by joint hypermobility, when does it present

A

usually women

presents in childhood or in 3rd decade

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2
Q

what are the causes of joint hypermobility

A

idiopathic
marfan’s
Ehlers danlos syndrome

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3
Q

what are the symptoms of joint hypermobility

A

arthralgia

premature OA

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4
Q

what are the investigations of joint hypermobility

A

modified beightons score = 4 or more

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5
Q

what are the questions in the modified beightons score

A

> 10º hyperextension of the elbows
Passively touch the forearm with the thumb, while flexing the wrist.
Passive extension of the fingers or a 90º or more extension of the fifth finger
Knees hyperextension ≥ 10º)
Touching the floor with the palms of the hands when reaching down without bending the knees.

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6
Q

what is the treatment of joint hypermobility

A

physio

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7
Q

what is soft tissue rheumatism

A

general term to describe pain that is caused by inflammation/damage to ligaments, tendons, ,muscles or nerves located near a joint

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8
Q

what is the most common site of soft tissue rheumatism

A

shoulder

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9
Q

what is the treatment of soft tissue rheumatism

A
pain control
rest
physio
steroid injections 
surgery
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10
Q

what is sjogren’s syndrome

A

long-term autoimmune disease that is characterised by lymphocytic infiltration of the exocrine glands

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11
Q

what are the symptoms of sjogren’s syndrome

A
gritty eyes
blepharitis = red/inflamed eyes
vaginal dryness
thirst
dry mouth
salivary gland inflammation
tooth decay
dry cough
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12
Q

what are the investigations of sjogren’s syndrome

A
schrimer's test = ocular dryness
antibodies
salivary gland ultrasound + biopsy  = if antibodies are negative
raised IgG 
high ESR & PV
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13
Q

what auto-antibodies are associated with sjogren’s syndrome

A

ANA
Anti-Ro
Anti-la

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14
Q

what is the treatment for sjogren’s syndrome

A

artificial tears and salivary supplements
vaginal lubricants
good dental hygiene + strong fluoride toothpaste
hydroxychloroquine = fatigue and arthralgia
immunosuppression = if a major organ is involved

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15
Q

what is mixed connective tissue disease

A

symptoms of SLE, RA, scleroderma and polymyalgia

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16
Q

what antibody is associated with mixed connective tissue disease

A

Anti-RMP

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17
Q

what is the treatment for mixed connective tissue disease

A

annual ECHO’S and pulmonary function test = check for pulmonary hypertension and IDL

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18
Q

what condition is associated with scleroderma

A

raynauds

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19
Q

what is scleroderma also know as

A

systemic sclerosis

SSc

20
Q

what are the two types of scleroderma

A

diffuse cutaneous systemic sclerosis

limited cutaneous systemic sclerosis

21
Q

describe the symptoms of diffuse cutaneous systemic sclerosis

A

skin involvement on extremities above and below elbows and knees, face, and trunk
early significant organ involvement

22
Q

what antibody is associated with diffuse cutaneous systemic sclerosis

A

anti-scl-70

23
Q

describe the symptoms of limited cutaneous systemic sclerosis

A

skin involvement on extremities only below elbows and knees + face

24
Q

what antibody is limited cutaneous systemic sclerosis associated with

A

anti-centromere

25
Q

what are the symptoms of scleroderma

A

CREST:

calcinosis = Ca2+ deposits in skin
Raynauds
Oesophageal dysfunction = acid reflux + decrease in motility
sclerodactyly = thickening and tightening of skin on fingers + hands
telangiectasia

pulmonary fibrosis and hypertension
scleroderma renal crisis

26
Q

what is the treatment of scleroderma

A

yearly ECHO and pulmonary function testing
immunosuppression
GI involvement = PPI
renal involvement = BP control (ACEI)

27
Q

what is systemic lupus erythematous (SLE)

A

chronic, systemic autoimmune disease that can affect any part of the body

28
Q

who is affect by SLE

A

women

non-african blacks

29
Q

what is the cause of SLE

A

autoantibodies directed at structural parts of DNA

30
Q

who is at higher risk of SLE, give examples

A

higher oestrogen exposure:

early menstruation
oestrogen containing contraceptive
HRT

31
Q

what are the symptoms of SLE

A
Systemic (fever, weight loss etc)
mucocutaneous
muscle weakness and pain 
renal = lupus nephritis 
haematological
32
Q

what are the mucocutaneous symptoms of SLE

A
o	Photosensitivity
o	Malar rash – “butterfly rash”, doesn’t affect eyelids 
o	Discoid lupus erythematosus
o	Subacute cutaneous lupus
o	Mouth ulcers
o	Alopecia
33
Q

what are the haematological symptoms of SLE

A
o	Lymphadenopathy 
o	Leucopenia
o	Lymphopenia
o	Haemolytic anaemia
o	Thrombocytopenia
34
Q

what are the investigations of SLE

A
urinalysis = identify glomerulonephritis 
antibodies 
normal CRP
biopsy 
screen for organ involvement
35
Q

what antibodies are associated with SLE

A

ANA
anti-double stranded antibody (anti-sDNA)= very specific
Anti-ENA = Anti-Ro, Anti-sm, Anti-RNP
anti-phospholipid antibodies = anti-cardiolipid, lupus anticoagulant, anti-beta 2 glycoprotein

36
Q

how is SLE monitored

A
clinical assessment 
anti-dsDNA = correlates with activity
C3/C4 levels = correlates with activity
urinalysis = glomerulonephritis 
monitor BP and cholesterol
37
Q

what is the treatment of SLE

A

regular monitoring
avoid excessive sun exposure
drugs

38
Q

what drugs are used to treat mild SLE

A

hydroxychloroquine
topical steroids
NSAIDs

39
Q

what drugs are used to treat moderate SLE

A

oral steroids
azathroprine
methotrexate

40
Q

what drugs are used to treat severe SLE

A

IV steriods
cyclophosphamide
rituximab
belimumab

41
Q

what is anti-phospholipid syndrome

A

a disorder which manifests clinically as recurrent venous or arterial thrombosis and/or foetal loss. HIGHER RATE OF CLOTS

42
Q

what are the symptoms of anti-phospholipid syndrome

A

increased frequency of stroke or MI
recurrent PE or thrombosis = can lead to pulmonary hypertension
catastrophic ASP
Miscarriage = usually late but can occur at any time
migraine
livedo reticularis

43
Q

what are the investigations of anti-phospholipid syndrome

A

thrombocytopenia
prolonged APTT
antibodies

44
Q

what antibodies are associated with anti-phospholipid syndrome, when must they be present to indicate diagnosis

A

lupus anticoagulant
anti-cardiolipin
anti-beta 2 glycoprotein

must be present on 2 occasions at least 12 weeks apart

45
Q

what is the treatment of anti-phospholipid syndrome

A

episode of thrombosis = anti-coagulantion (warfarin)

no episode of thrombosis = no treatment