Connective Tissue Disorder Flashcards
1
Q
What is Sjogren’s Syndrome?
A
- Chronic autoimmune disorder affecting exocrine glands resulting in dry mucosal surfaces.
- Diminished lacrimal and salivary gland secretion
- May be primary (PSS) or secondary to rheumatoid arthritis or other connective tissue disorders (10 years after the initial onset).
2
Q
What are associations with Sjorgren’s Syndrome?
A
- Sjogren’s syndrome is much more common in females (ratio 8:2)
- There is a marked increased risk of lymphoid malignancy (40-60 fold)
3
Q
What are common symptoms of Sjorgren’s?
A
MADFRED
- Myalgia
- Arthralgia
- Dry mouth
- Fatigue
- Raynaud’s
- Enlarged Parotids (parotitis recurrent)
- Dry eyes: keratoconjunctivitis sicca
- Vaginal dryness, Sensory polyneuropathy, Renal tubular acidosis (usually subclinical)
4
Q
What is the investigations for Sjorgren’s?
A
- Schirmer’s test: filter paper near conjunctival sac to measure tear formation
-
BLOOD TEST
- Anti-Ro (SSA) and Anti-La (SSB) antibodies in 30% of patients with PSS
- Rheumatoid factor (RF)+ (100%) of patients and ANA+ (70%)
- Hypergammaglobulinaemia
- Low C4
- Histology: focal lymphocytic infiltration
5
Q
How is Sjorgrens managed?
A
- Avoid dry or smoky atmospheres
- Dry eyes: artificial tears
- Dry mouth: artificial saliva, sugar free gum/pastilles, pilocarpine may stimulate saliva production
- Skin emollients
- Vaginal lubricants
- Immunosuppressants/steroids rarely needed
6
Q
What is Dermatomyosistis and Polymyosistis?
A
- Rare idiopathic muscle disease that are characterized by inflammation of striated muscle. Proximal muscles affected symmetrically
- Polymyositis is a variant of the disease where skin manifestations are not prominent
- Can also be due to underlying malignancy (typically ovarian, breast and lung cancer) and connective tissue disorders
- M:F similar and peak age of onset is 40-50 years
7
Q
What are signs and symptoms of Dermatomyositis and Polymyositis?
A
- Skin features
- Photosensitive – can lead to hyper or hypo-pigmentation
- Macular rash over back and shoulder
- Heliotrope rash in the periorbital region
- Gottron’s papules - roughened red papules over extensor surfaces of fingers
- Nail fold capillary dilatation
- Other features
- Proximal muscle weakness +/- tenderness
- Raynaud’s
- Respiratory muscle weakness – diaphragm
- Interstitial lung disease: e.g. Fibrosing alveolitis or organising pneumonia
- Dysphagia, dysphonia – upper oesophagus has striated muscle which can be affected and can lead to aspiration pneumonia
8
Q
What are diagnostic criteria for Dermatomyositis and Polymyositis?
A
-
PM if >= 3 of the first 4 and DM if rash and >= 2 of the first 3 of below criteria:
- Symmetrical proximal muscle weakness
- Raised serum muscle enzyme levels e.g.
- Typical electromyographic (EMG) changes
- Biopsy evidence of myositis
- Typical rash of dermatomyositis
9
Q
What are investigations for Dermatomyositis and Polymyositis?
A
- Raised inflammatory mrkers
- Raised ALT
- Majority of patients are ANA positive, with around 25% anti-Mi-2 positive
- anti-jo
- Well demonstrated on MRI
10
Q
How is Dermatomyositis and Polymyositis managed?
A
- High dose corticosteroids are the mainstay in the first few weeks.
- Monitoring disease activity can be difficult but the inflammatory markers and CK are often used. Repeat EMG studies/MRI or biopsy may be needed.
- Long term control is with MTX or AZA. Rituximab can be effective. Intravenous immunoglobulin is also effective.
- In DM, sun-protection is important and HCQ may also reduce the rash.
- For most patients, DM and PM are long-term condition
11
Q
What is Systemic Sclerosis?
A
- Multisystem autoimmune disease due by increased fibroblast activity resulting in abnormal growth of connective tissue which leads to vascular damage and fibrosis
- Characterised by hardened, sclerotic skin and other connective tissues.
- It is four times more common in females
12
Q
What are types of Systemic Sclerosis?
A
- Limited cutaneous systemic sclerosis
- Diffuse cutaneous systemic sclerosis
- Scleroderma (without internal organ involvement)
- tightening and fibrosis of skin
- may be manifest as plaques (morphoea
13
Q
What are signs and symptoms of Limited cutaneous systemic sclerosis?
A
- Raynaud’s may be first sign
- Scleroderma affects face and distal limbs predominately
- Associated with anti-centromere antibodies
- PA hypertension after a mean of 10 years of symptoms
- CREST syndrome
14
Q
What are signs and symptoms of Diffuse cutaneous systemic sclerosis?
A
- Scleroderma affects trunk and proximal limbs predominately
- Associated with scl-70 antibodies
- Hypertension, lung fibrosis and renal involvement seen
- Accelerated hypertension can lead to renal failure in diffuse SSC (mostly)
- Less common but poorer prognosis
15
Q
What are investigations and findings for Systemic Sclerosis?
A
- Inflammatory markers usually normal
- X-ray hand: calcinosis
- CXR, HRCT, PFT: pulmonary disease
- ECG & ECHO: PA hypertension, heart failure, myocarditis, arrhythmias
-
Antibodies
- ANA positive in 90%
- anti-scl-70 antibodies = diffuse cutaneous systemic sclerosis
- anti-centromere antibodies = limited cutaneous systemic sclerosis
