connective tissue diseases Flashcards
who is affected by joint hypermobility, when does it present
usually women
presents in childhood or in 3rd decade
what are the causes of joint hypermobility
idiopathic
marfan’s
Ehlers danlos syndrome
what are the symptoms of joint hypermobility
arthralgia
premature OA
what are the investigations of joint hypermobility
modified beightons score = 4 or more
what are the questions in the modified beightons score
> 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.
what is the treatment of joint hypermobility
physio
what is soft tissue rheumatism
general term to describe pain that is caused by inflammation/damage to ligaments, tendons, ,muscles or nerves located near a joint
what is the most common site of soft tissue rheumatism
shoulder
what is the treatment of soft tissue rheumatism
pain control rest physio steroid injections surgery
what is sjogren’s syndrome
long-term autoimmune disease that is characterised by lymphocytic infiltration of the exocrine glands
what are the symptoms of sjogren’s syndrome
gritty eyes blepharitis = red/inflamed eyes vaginal dryness thirst dry mouth salivary gland inflammation tooth decay dry cough
what are the investigations of sjogren’s syndrome
schrimer's test = ocular dryness antibodies salivary gland ultrasound + biopsy = if antibodies are negative raised IgG high ESR & PV
what auto-antibodies are associated with sjogren’s syndrome
ANA
Anti-Ro
Anti-la
what is the treatment for sjogren’s syndrome
artificial tears and salivary supplements
vaginal lubricants
good dental hygiene + strong fluoride toothpaste
hydroxychloroquine = fatigue and arthralgia
immunosuppression = if a major organ is involved
what is mixed connective tissue disease
symptoms of SLE, RA, scleroderma and polymyalgia
what antibody is associated with mixed connective tissue disease
Anti-RMP
what is the treatment for mixed connective tissue disease
annual ECHO’S and pulmonary function test = check for pulmonary hypertension and IDL
what condition is associated with scleroderma
raynauds
what is scleroderma also know as
systemic sclerosis
SSc
what are the two types of scleroderma
diffuse cutaneous systemic sclerosis
limited cutaneous systemic sclerosis
describe the symptoms of diffuse cutaneous systemic sclerosis
skin involvement on extremities above and below elbows and knees, face, and trunk
early significant organ involvement
what antibody is associated with diffuse cutaneous systemic sclerosis
anti-scl-70
describe the symptoms of limited cutaneous systemic sclerosis
skin involvement on extremities only below elbows and knees + face
what antibody is limited cutaneous systemic sclerosis associated with
anti-centromere
what are the symptoms of scleroderma
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
what is the treatment of scleroderma
yearly ECHO and pulmonary function testing
immunosuppression
GI involvement = PPI
renal involvement = BP control (ACEI)
what is systemic lupus erythematous (SLE)
chronic, systemic autoimmune disease that can affect any part of the body
who is affect by SLE
women
non-african blacks
what is the cause of SLE
autoantibodies directed at structural parts of DNA
who is at higher risk of SLE, give examples
higher oestrogen exposure:
early menstruation
oestrogen containing contraceptive
HRT
what are the symptoms of SLE
Systemic (fever, weight loss etc) mucocutaneous muscle weakness and pain renal = lupus nephritis haematological
what are the mucocutaneous symptoms of SLE
o Photosensitivity o Malar rash – “butterfly rash”, doesn’t affect eyelids o Discoid lupus erythematosus o Subacute cutaneous lupus o Mouth ulcers o Alopecia
what are the haematological symptoms of SLE
o Lymphadenopathy o Leucopenia o Lymphopenia o Haemolytic anaemia o Thrombocytopenia
what are the investigations of SLE
urinalysis = identify glomerulonephritis antibodies normal CRP biopsy screen for organ involvement
what antibodies are associated with SLE
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
how is SLE monitored
clinical assessment anti-dsDNA = correlates with activity C3/C4 levels = correlates with activity urinalysis = glomerulonephritis monitor BP and cholesterol
what is the treatment of SLE
regular monitoring
avoid excessive sun exposure
drugs
what drugs are used to treat mild SLE
hydroxychloroquine
topical steroids
NSAIDs
what drugs are used to treat moderate SLE
oral steroids
azathroprine
methotrexate
what drugs are used to treat severe SLE
IV steriods
cyclophosphamide
rituximab
belimumab
what is anti-phospholipid syndrome
a disorder which manifests clinically as recurrent venous or arterial thrombosis and/or foetal loss. HIGHER RATE OF CLOTS
what are the symptoms of anti-phospholipid syndrome
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
what are the investigations of anti-phospholipid syndrome
thrombocytopenia
prolonged APTT
antibodies
what antibodies are associated with anti-phospholipid syndrome, when must they be present to indicate diagnosis
lupus anticoagulant
anti-cardiolipin
anti-beta 2 glycoprotein
must be present on 2 occasions at least 12 weeks apart
what is the treatment of anti-phospholipid syndrome
episode of thrombosis = anti-coagulantion (warfarin)
no episode of thrombosis = no treatment
