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.
