Connective Tissue Disorders Flashcards by Izzie Setford

What are connective tissue diseases?

Autoimmune conditions of the connective tissue

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Name some autoimmune polygenic diseases.

Rhuematoid arthritis
Systemic sclerosis
Polymyositis
Dermatomyositis
SLE
Sjorgren Syndrome

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What is polymyositis?

Chronic inflammation of striated muscle

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What is dermatomyositis?

Chronic inflammation of striated muscle with a rash

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What is dermatomyositis associated with?

Elderly
- malignancy (paraneoplastic synrome)
Children
- nothing

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What are the diagnostic features of polymyositis and dermatomyositis?

1) Painful proximal myopathy with weakness
2) Evidence of inflammation in the muscle (biopsy or MRI)
3) Elevation of muscle enzymes
4) Characteristic EMG pattern
5) Characteristic JDM rash - this makes it dermatomyositis

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At what age is dermatomyositis most common?

incidence increases rapidly after the age of 35 and peaks between the ages of 55-65

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Describe the heliotrope rash in dermatomyositis.

Can be itchy or burning
Purple eyelids
- can cross the bridge of the nose
- patches of erythema on the torso, upper limbs and buttocks may occur

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What are Gottron’s papules?

Scaly skin with a red, vasculitic base
- appears on extensor surfaces (PIP and MCP joints), also the knees and elbows
When these heal they can cause atrophic scarring

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What nail fold changes are typical in children with Junveille dermatomyositis?

Nailfold capillary dilation

- formation of mega capillaries followed by areas of infarct and drop out

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What is calcinosis in relation to dermatomyositis?

Most common in JDMS than adult disease
Subcutaneous calcification deposits
Can cause secondary prevention and functional loss (when deposited in the hands)

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What is calcinosis universalis?

Long bands or sheets of symmetrical subcutaneous calcification
- causes fatigue, muscle pain and stiffness

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What are the clinical features of proximal muscle weakness in children?

Failure to achieve milestones or loose milestones already achieved
Muscle pain (60%)
Children maintain flexed elbows and knees (promotes contracture development)
Gower’s sign
- pushing himself up on his legs

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Name some investigations you can do in dermatomyositis?

Muscle enzymes
- creatinine kinase
- alanine transaminase 
- lactate dehydrogenase
MRI of the muscle
Muscle biopsy
Clinical monitoring 
- pulmonary function tests
- tests of swallowing and video fluroscopy
- sequential power testing

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How can dermatomyositis be seen on MRI?

T2 weighted image

water is bright in inflamed muscle
muscle brightness ratio to fat is normally 0.4 or less
an increase in the ratio indicates active disease

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List the symptoms associated with dermatomyositis/myositis.

Proximal muscle weakness
Muscle pain
General fatigue and tiredness
Difficulty swallowing/breathing 
Gottron's papules
Dry cough
Rash on knuckles, chest, face and back
Heliotrope rash
Calcinosis
 Nail fold capillary dilation

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Describe the rash associated with SLE.

Butterfly rash across the face
- malor (looks photosensitive)
- blackheads in the area
Rash spares the nares, but covers the bridge of the nose

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What is generalised acute lupus?

Generalised macular papular rash (representing a photosensitive dermatitis)

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List some of the symptoms of systemic lupus erythematosus.

Oral mucosal ulceration
Alopecia - diffuse or scarring
Skin vasculitis
Skin rash (including butterfly rash)
Joint pain and stiffness
Fever
Extreme fatigue 
Weight loss
Capillary dilation

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What is discoid systemic lupus erythematosus?

This is a subtype of chronic cutaneous lupus erythematosus
This presents with erythematous-to-violaceous, scaly plaues
- prominent follicular plugging
- results in scarring and atrophy
Can present in the absence of systemic disease

What is the difference between chronic, subacute and acute cutaneous lupus skin symptoms?

Chronic
- thick, red, scaly patches
Subacute
- red, scaly patches of skin
Acute
- rash (classically malar rash on the face)

What are the dermatological manifestations of juvenile SLE?

Malar rash (butterfly)
Photosensitivity
Alopecia (diffuse)
Raynauds

What is the treatment for juvenile SLE?

High SPF sunblock
Anti-malarials
Topical steriods
Low dose prednisolone

Describe the systemic involvement with Juvenile SLE.

Dermatitis (60-90%)
Renal (60-80%)
Liver 
Spleen
CNS (10-25%)
Systemic vasculitis 
Serositis
- pleurisy
- pericarditis
- peritonitis 
Arthritis (70-90%)

What is neuropsychiatric lupus?

A description of the ways in which lupus can affect the neurological systems

List the effects of neuropsychiatric lupus in children.

``` Headache - severe (cerebral vein thrombosis) - pseudotumour cerebri - migraine Depression Organic syndromes - cognitive impairment - seizures - cranial neuropathies (II, III, IV, VI) - mononeuritis multiplex - Guillain-Barre Psychosis ```

What are the classification criteria in a diagnosis of SLE?

``` Malar rash Discoid rash Photosensitivity Oral ulcers Arthritis Serositis Renal disorder Neurological disorder Haematological disorder - haemolytic anaemia - leukopenia - thrombocytopenia Immunological disorder ANA ```

What immunological tests can be done in a person with suspected lupus?

Anti-dsDNA Anti SM False positive serology for syphylis Positive LE preparation

If a person has an ANA negative test, can they have lupus?

Yes - sensitive not specific Found in healthy people and other conditions ANA doesn't diagnose SLE, but supports the diagnosis A diagnosis of SLE in the absence of ANA is very unlikely

If a person has a positive dsDNA autoantibody test, do they have Lupus?

Yes - specific, not sensitive So, 50% of people without dsDNA positive results may still have SLE Used for disease monitoring as it goes away when patients improve

What are the three types of Scleroderma?

Localised Systemic CREST

At what age is there highest incidence of systemic scleroderma?

30-50 years

What are the clinical signs of systemic scleroderma?

``` Vascular compromise - collagen excess causes vascular leakiness/oedema Tight skin Digital infarcts Raynaud's ```

Which systems are affected in systemic scleroderma?

Lung Renal GIT Joints

What are the sub-groups of localised scleroderma?

Morphea Linear scleroderma CREST

Describe morphea scleroderma.

Several patches of scleroderma appear on the trunk, abdomen or proximal limb The lesions are oval patches of skin They start of mauve in colour and then become ivory with a lilac halo

Describe linear scleroderma.

Sclerodermic lesions appear in lines/bands They start of mauve in colour and then become ivory with a lilac halo Usually occur more distally (starts as a band of discoloured skin)

What are the complications of localised scleroderma linear?

Duration of activity tends to be longer Can limit joint movement when crossing a joint margin The band of skin may feel warm and have some erythema

Why is limited cutaneous scleroderma sometimes referred to as CREST syndrome scleroderma?

It is an acronym that refers to the five main features - Calcinosis - Raynaud's - oEsophageal dysmotility - Sclerodactyly - Telangiectasia

What is a main difference between systemic scleroderma and CREST syndrome scleroderma?

Lack of involvement of the kidneys in CREST

What is Sjogren's syndrome?

An autoimmune disorder where the immune system attacks glands that secrete fluids - e.g. tear and saliva glands

What are the symptoms of Sjorgren's syndrome?

Dry eyes Dry mouth Salivary glands enlarge and become tender Dry mucosal membranes (e.g. vagina)

What non-Sicca symptoms can be associated with Sjorgren's syndrome?

``` Arthalgia Raynaud's Neurological - cranial or peripheral neuropathy - e.g. trigeminal neuralgia Kidneys Lung Lymphoma ```

Which autoantibodies are associated with SLE?

dsDNA Ro Smith

Which autoantibodies are associated with Sjorgren's syndrome?

Ro | La

Which autoantibodies are associated with dermatomyositis/polymyositis?

Jo-1

Which autoantibodies are associated with scleroderma?

Scl-70

Which autoantibodies are associated with mixed connective tissue diseases?

Ribonucleoprotein

Which autoantibodies are associated with CREST syndrome?

centromere