Connective Tissue Disorders Flashcards
Systemic Sclerosis (Scleroderma)
- what is it?
There are three patterns of disease:
- limited cutaneous SS?
- diffuse cutaneous SS?
- scleroderma?
which one was formerly known as CREST syndrome?
which one is associated with:
- anti-centromere antibodies?
- scl70 antibodies?
- anti-RNA polymerase I + III antibodies?
what % of SS patients are ANA +ve?
what % are rheumatoid factor +ve?
- characterised by hardened, sclerotic skin
Limited cutaneous systemic sclerosis:
- Raynaud’s may be first sign
- scleroderma affects face and distal limbs predominately
- associated with anti-centromere antibodies (80% of pts)
Diffuse cutaneous systemic sclerosis:
- scleroderma affects trunk and proximal limbs predominately
- associated with scl-70 antibodies
Scleroderma (without internal organ involvement):
- tightening and fibrosis of skin
limited cutaneous systemic sclerosis is CREST syndrome: Calcinosis,
Raynaud’s phenomenon, Esophageal dysmotility, Sclerodactyly,
Telangiectasia
ANA positive in 90%
RF positive in 30%
what are some of the clinical features of Systemic sclerosis?
think CREST!!
sclerodactyl (prayer sign) telangiectasia (red spots on cheeks) calcinosis oesophageal dysmotility raynaud's - (white - blue -red)
Mx of SS
- curable?
- if organ involvement or progressive skin disease?
- no
- IV cyclophosphamide
Which one of the following antibodies is most specific for limited cutaneous systemic sclerosis?
Anti Scl70 antibodies Rhf Anti-nuclear factor anti-centromere antibodies Anti-Jo 1antibodies
anti-centromere antibodies
Limited (central) systemic sclerosis = anti-centromere antibodies
A 49-year-old female presents with painful colour changes of her hands precipitated by cold. She also reports difficulty swallowing and has noticed tightness of her skin especially on her face and her fingers.
What is the most appropriate test from the options below?
anti-centromere antibodies anti-CCP ANCA Anti-dsDNA Anti-Ro/ Anti-La
anti-centromere antibodies
The clinical features are suggestive of scleroderma. A positive anti-centromere antibody can assist in making the diagnosis.
Which of the following antibodies is most specific for diffuse cutaneous systemic sclerosis?
Anti Scl70 antibodies Rhf Anti-nuclear factor anti-centromere antibodies Anti-Jo 1antibodies
Anti Scl70 antibodies
A 56-year-old lady is referred to rheumatology clinic due to severe Raynaud’s phenomenon associated with arthralgia of the fingers. On examination you note shiny and tight skin of the fingers with a number of telangiectasia on the upper torso and face. She is also currently awaiting a gastroscopy to investigate heartburn. Which one of the following antibodies is most specific for the underlying condition?
Anti Scl70 antibodies Rhf Anti-nuclear factor anti-centromere antibodies Anti-Jo 1antibodies
anti-centromere antibodies
A 40-year-old man of African origin presents to his GP complaining that his fingers go extremely cold and white at random times of the day. It is worse outdoors and particularly in the winter. On examination, you see small white deposits on his arms. There are a large number of spider naevi on his cheeks. The skin on the top of hands is thickened and he is unable to completely straighten out his fingers. At present, the colour and temperature of his fingers are normal.
Considering the likely diagnosis, which of the following features are you most likely to see?
dysphagia glomerulonephritis xerostomia gottron's papules dilated capillary loops
dysphagia
CREST syndrome is a subtype of limited systemic sclerosis and includes: calcinosis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly, telangiectasia
A 57-year-old female has noticed that the skin on her hands has become very tight and that her fingers sometimes turn blue. She has also had difficulty swallowing both solids and liquids. What autoantibody is most associated with these symptoms?
anti-centromere anti Scl70 anti dsDNA anti CCP AMA
anti-centromere
POLYMYOSITIS/ DERMATOMYOSITIS
what is polymyositis?
what is dermatomyositis?
- typically affects whom?
polymyositis - inflammatory disorder causing symmetrical, proximal muscle weakness
dermatomyositis - when polymyositis extends to skin
commonly associated with malignancy
- middle aged females
POLYMYOSITIS/ DERMATOMYOSITIS
- features of both?
- features of dermatomyositis?
Ix - what is raised?
- proximal muscle weakness +/- tenderness
Raynaud’s
respiratory muscle weakness
interstitial lung disease
shawl sign = macular rash on back/shoulder,
heliotrope = purple rash on eyelids,
gottron’s papules = red knuckles.
creatinine kinase is raised
ant-Jo-1 antibodies are seen
POLYMYOSITIS/ DERMATOMYOSITIS
Mx?
what is used in resistant cases?
which DMARD is particularly useful in dermatomyositis?
start prednisolone
DMARDs and cytotoxics (ciclosporins)
hydroxychloroquine
A 60-year-old man presents with weakness and a skin rash on his upper eyelids. He also complains of a cough which has been present for 3 months. He has a 60 pack-year smoking history. On examination he is noted to have symmetrical proximal muscle weakness.
What is the most appropriate test from the options below?
Anti Scl70 antibodies Rhf Anti-nuclear factor anti-centromere antibodies Anti-Jo 1antibodies
Anti-Jo 1antibodies
A 75 year-old male patient presents with a feeling of weakness of the legs. On examination there are also some skin changes present, with purple plaques on the dorsum of the hands. You suspect a diagnosis of dermatomyositis. Which of the following underlying conditions is associated with dermatomyositis and should be considered?
liver cirrhosis chronic renal failure haemochromatosis internal malignancy pulmonary fibrosis
internal malignancy
Dermatomyositis is usually an autoimmune condition, being most common in women aged 50-70. However, it can also be a paraneoplastic disease, with ovarian, breast and lung tumours being the most common underlying cancers.
A 75-year-old female presents to her general practitioner with muscle weakness that has become progressively worse over the last year. She can no longer walk or stand for a long period of time. She also has a purple rash on her eyelids, red lumps on her knees and elbows and cracked painful skin on her fingers. What autoantibody is most likely to be causing these symptoms?
Anti Scl70 antibodies Rhf Anti-nuclear factor (ANA) anti-centromere antibodies AMA
Anti-nuclear factor (ANA)
Dermatomyositis is associated with ANA. It presents with symptoms/signs such as proximal muscle weakness, a macular rash over back/shoulders, a violet periorbital rash and red papules over extensor surfaces of the fingers.
SYSTEMIC LUPUS ERYTHEMATOUS (SLE)
- what is it?
- classic patient?
- more common in which ethnicity?
- associated with which HLA genes?
- can be triggered by what infection?
multisystemic autoimmune condition can affect any organ including the skin, joints, kidneys and brain
- females aged 20-40
- Afro-caribbean and asian communities
- associated with HLA B8, DR2, DR3
- EBV
An 84-year-old female presents with pain and stiffness of her pelvic and shoulder girdle. She also complains of painful mastication. She drinks approximately 15 units of alcohol per week. Her current medication include atorvastatin and amlodipine. Investigations demonstrate an ESR of 95mm/hour.
What is the most likely diagnosis?
polymyositis
polymyalgia rheumatica
fibromyalgia
alcoholic myopathy
polymyalgia rheumatica
The clinical features and raised ESR is suggestive of polymyalgia rheumatica. The painful mastication indicates that the patient may also be suffering from temporal arteritis.
A 70-year-old woman presents as she is feeling generally run-down and has muscle aches. The back, arm and thigh muscles ache and are stiff, particularly in the morning. These symptoms have been present for the past two weeks. Prior to this she was generally fit and well. Clinical examination is unremarkable other than some tenderness over her deltoid and thigh muscles. Muscle strength is normal. What is the most likely diagnosis?
polymyositis
polymyalgia rheumatica
fibromyalgia
rheumatoid arthritis
polymyalgia rheumatica
Features
typically patient > 60 years old
usually rapid onset (e.g. < 1 month)
aching, morning stiffness in proximal limb muscles (not weakness)
SYSTEMIC LUPUS ERYTHEMATOUS (SLE)
features:
- general?
- skin?
- CVS?
- renal?
- neuro?
General features:
fatigue
fever
mouth ulcers
lymphadenopathy
Skin:
= malar (butterfly) rash:
= discoid rash: scaly, erythematous, well demarcated rash in sun-exposed areas.
= photosensitivity
= Raynaud’s phenomenon
Cardiovascular:
pericarditis: the most common cardiac manifestation
myocarditis
Renal:
proteinuria
glomerulonephritis
Neuropsychiatric:
anxiety and depression
psychosis
SYSTEMIC LUPUS ERYTHEMATOUS (SLE)
Antibodies: what % are:
- ANA +ve?
- RhF +ve?
Three best tests:
- Anti-dsDNA:?
- when do you do complement C3 and C4?
- ESR + CRP?
can also do anti-smith, anti Ro and anti La
antismith is most specific but sensitivity is only 30%
99% are ANA positive
20% are rheumatoid factor positive
anti-dsDNA: highly specific (> 99%), but less sensitive (70%)
present in 60%
Complement: C3 and C4 decreased. (especially in flares)
ESR increase but CRP is normal.
Mx of SLE
- what do you do for rashes?
- for severe acute flares?
- maintenance?
Treat rashes with topical steroids and prevent by using high-factor sun-block creams.
- Severe acute flares – urgent IV cyclophosphamide and high-dose prednisolone.
- Maintenance – use NSAIDs and hydroxychloroquine for joint and skin symptoms.
SYSTEMIC LUPUS ERYTHEMATOUS (SLE)
Drug induced lupus:
what drugs can cause lupus?
what antibodies are found in 95% of drug induced lupus?
Most common causes
procainamide
hydralazine
Less common causes
isoniazid
anti-histone antibodies
Low levels of which one of the following types of complement are associated with the development of systemic lupus erythematous?
C4 C5 C6 C7 C8
C4
SLE: C3 & C4 low
A 22-year-old female presents with polyarticular arthralgia and a malar rash. Blood tests results are as follows:
Hb 135 g/l
Platelets 110 * 109/l
WBC 2.8 * 109/l
What is the most appropriate test from the options below?
anti-centromere anti Scl70 anti dsDNA anti CCP AMA
anti dsDNA
