Connective Tissue Disease Flashcards by Emma Goodall

How does antiphospholipid syndrome manifest clinically?

As arterial or venous thrombosis (common cause of these in people under 50)
Pregnancy loss with no other explanation or pre-term birth because of eclampsia, severe pre-eclampsia or with signs of placental insufficiency.l
Pregnancy loss is commonly late, in the second or third trimester but can be at any time

How well did you know this?

Not at all

Perfectly

What do we need to diagnose antiphospholipid syndrome?

One positive lab test and one clinical feature present in the right patient context.

How well did you know this?

Not at all

Perfectly

What lab tests can be used as part of the diagnosis for antiphospholipid syndrome?

Positive anti-cardiolipin (anti-phospholipid) antibodies.
And/or lupus anticoagulant activity
And/or anti-beta2-glycoprotein

These must be present on 2 occasions at least 12 weeks apart.

How well did you know this?

Not at all

Perfectly

Is antiphospholipid syndrome more common in males or females?

Females X 3.5

How well did you know this?

Not at all

Perfectly

What other types of people can have anti-cardiolipin antibodies other than APS patients?

Around a third of those with SLE.
Some in people with other CTD’s
Around 1-5% of the healthy population

How well did you know this?

Not at all

Perfectly

What features other than pregnancy loss and arterial/venous thrombosis do we see in APS?

Superficial thrombophlebitis and livedo reticularis
Mild/moderate thrombocytopenia
Neurological features e.g. Migraine and transverse myelitis
Libman Sachs endocarditis

How well did you know this?

Not at all

Perfectly

What CTD should we be suspicious of if we see strokes or MI’s in younger patients?

APS

How well did you know this?

Not at all

Perfectly

What can strokes develop secondary to in APS?

In situ thrombosis or Libman sacks valvular lesions.

How well did you know this?

Not at all

Perfectly

What kind of lesions are found in Libman sacks endocarditis?

Sterile.

How well did you know this?

Not at all

Perfectly

What can recurrent PE or thrombosis lead to in APS patients?

Life threatening pulmonary hypertension.

How well did you know this?

Not at all

Perfectly

What is CAPS?

Catastrophic APS. Characterised by multi organ infarctions seen over days to weeks.

How well did you know this?

Not at all

Perfectly

What serum results can we find in APS?

Thrombocytopenia and prolonged APTT (anti partial thromboplastin time)

How well did you know this?

Not at all

Perfectly

What are the treatments for APS?

Thrombosis (lifelong anticoagulation)
Pregnancy loss is given aspirin and heparin
Attention is paid to vascular risk factors.

How well did you know this?

Not at all

Perfectly

Why is warfarin not given to APS sufferers during pregnancy?

It is teratogenic.

How well did you know this?

Not at all

Perfectly

Is Sjogrens a primary or secondary condition?

It can be either

How well did you know this?

Not at all

Perfectly

What is Sjorgens and what does it cause?

An autoimmune condition resulting in lymphocyte infiltration of the exocrine glands. This causes xerostomia and keratoconjunctivitis sicca (commonly in the lacrimal glands and mouth.

How well did you know this?

Not at all

Perfectly

What is xerostomia?

Dryness in the mouth.

How well did you know this?

Not at all

Perfectly

What are the 6 classification criteria of Sjogrens?

Subjective ocular symptoms (daily for over 3 months)
Subjective oral symptoms (daily >3 months)
Objective evidence of ocular dryness
Objective evidence of salivary gland involvement
Either Ro La or both
Lip gland biopsy with evidence of lymphocytic infiltrate

How well did you know this?

Not at all

Perfectly

What must be present in order to diagnose Sjogrens?

4 of 6 of the classification criteria which must include either immunology or biopsy evidence.

How well did you know this?

Not at all

Perfectly

What is Schirmers test?

A test for Sjogrens where paper is put in the lower eyelid and left for 5 mins. Tears should come down to at least 10mm

How well did you know this?

Not at all

Perfectly

What are some of manifestations of Sjogrens other than eye and mouth involvement?

Fatigue
Arthralgia
Raynauds
Salivary swelling (especially parotid)
Lymphadenopathy (predominantly cervical)
Skin and vaginal dryness
Interstitial lung disease (far more common in other CTD's)
Neuropathy (in the glove stocking pattern)
Lymphoma
Renal tubular acidosis
Neonatal complete heart block (anti Ro)

How well did you know this?

Not at all

Perfectly

What is the peak age for primary Sjogrens?

40-60 years old

How well did you know this?

Not at all

Perfectly

Does Sjogrens affect males or females more?

Females x9

What are the treatments for Sjogrens?

Mostly to stress symptoms
Eye drops and punctual plugs
Regular dental care
Saliva replacement or stimulation (pilocarpine stimulates but may cause flushing)
Hydroxychloroquine can help with arthralgia and fatigue
Steroids and immunosuppression
CVS risk factor monitoring

What is Scleroderma?

Excessive fibrosis of organs and tissues due to excessive collagen production.

What organs does scleroderma commonly affect?

Skin, GI tract, heart, lungs, kidneys, arteries and MSK

What is the peak age for Scleroderma?

25-55

Does scleroderma affect males or females more?

Females x4

What syndrome is scleroderma associated with?

CREST syndrome

What does CREST syndrome comprise of?

``` Calcinosis Reynauds Oesophageal dysfunction Sclerodactyly Telangectasia ```

What two categories of scleroderma are there?

Localised and systemic

What subtypes of systemic scleroderma are their?

Limited and diffuse

What is sclerodactyly?

Localised thickening and tightening of the skin of the fingers or toes

Other than CREST features what is also found in around 30% of limited systemic sclerosis patients?

Pulmonary hypertension

What antibodies are associated with limited systemic sclerosis?

Anti-centromere antibodies

Where does the skin involvement tend to occur in limited systemic sclerosis?

Face, hands, forearms and feet

Is organ involvement early or late in limited systemic sclerosis?

Late

What are the features of diffuse systemic sclerosis?

Skin changes within one year of raynauds Truncal and acral skin involvement Early significant organ involvement Anti-scl-70 antibodies

What can scleroderma cause in the heart?

Pericarditis and myocardial fibrosis

What can scleroderma cause in the MSK system?

Polyarteritis and myositis

What are the three phases of cutaneous involvement in scleroderma? What are the results of these?

Oedematous Indurative Atrophic Skin becomes thickened and tight and can result in decreased joint movement

How is a diagnosis made for systemic sclerosis?

If a patient has 1 major and 2 minor classification features. Major = proximal sclerosis/induration of the skin

What major cutaneous features are seen in systemic sclerosis?

On the face beaking occurs when the skin of the nose pinches. Tightening of the skin around the mouth. Telangectasia Calcinosis (subcutaneous deposits)

What GI symptoms does systemic sclerosis?

``` Oesophageal hypomobility Small bowel hypomobility and bacterial overgrowth Pancreatic insufficiency Rectal hypomobility Dysphagia Malabsorption ```

What Respiratory symptoms does systemic sclerosis?

Interstitial lung disease Pulmonary hypertension Chest wall restriction Pulmonary fibrosis

What renal issues does systemic sclerosis cause?

Hypertensive renal crisis | Ischaemic issues

What cardiovascular issues does systemic sclerosis cause?

Raynauds with digital ulceration Atherosclerotic disease Hypertensive cardiomyopathy

What investigations do we do for systemic sclerosis?

Anti centromere antibody and a to Scl-70 Organ screening e.g.pulmonary function tests, echo and urinalysis

What are the treatments for systemic sclerosis?

Tailored to symptoms. Raynauds/digital ulcers = calcium channel blockers e.g. Iloprost and bosentan. Renal involvement = ACE inhibitors GI = PPI's Interstitial lung disease = immunosuppression usually with cyclophosamide.

What usually causes death in systemic sclerosis?

Renal failure secondary to malignant hypertension Sever respiratory compromise Cor pulmonale Cardiac failure or arrhythmias secondary to myocardial fibrosis

What are the common features of connective tissue disease that we should know to allow us to recognise a CTD even if we don't know the type?

Multi system including joints, skin and subcut tissues. Women affected more than men Immunological abnormalities are common Usually respond to anti inflammatory drugs

What are the 6 major criteria for mixed connective tissue disease?

``` severe myositis pulmonary involvement Raynauds observed swollen hands sclerodactyly anti-U1-RNP over 1 in 10000 ```

what are the 11 minor criteria for mixed connective tissue disease?

``` alopecia leukopenia anaemia pleuritis pericarditis arthritis trigeminal neuralgia malar rash thrombocytopaenia mild myositis history of swollen hands ```

what screening must we do for mixed connective tissue disease and why?

Due to the risk of pulmonary hypertension we must do regular echos and pulmonary function tests.

what treatments do we use for connective tissue disease?

according to symptoms e.g. calcium channel blockers for Raynauds. if there is significant muscle or lung involvement, immunosuppressants may be needed.

what is undifferentiated connective tissue disease?

a syndrome that has parts of different diseases but doesnt fit into one. it usually has a better prognosis and some antibody positivity can be expected.