Flashcards in Connective Tissue Disease Deck (56):
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
What do we need to diagnose antiphospholipid syndrome?
One positive lab test and one clinical feature present in the right patient context.
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
These must be present on 2 occasions at least 12 weeks apart.
Is antiphospholipid syndrome more common in males or females?
Females X 3.5
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
What features other than pregnancy loss and arterial/venous thrombosis do we see in APS?
Superficial thrombophlebitis and livedo reticularis
Neurological features e.g. Migraine and transverse myelitis
Libman Sachs endocarditis
What CTD should we be suspicious of if we see strokes or MI's in younger patients?
What can strokes develop secondary to in APS?
In situ thrombosis or Libman sacks valvular lesions.
What kind of lesions are found in Libman sacks endocarditis?
What can recurrent PE or thrombosis lead to in APS patients?
Life threatening pulmonary hypertension.
What is CAPS?
Catastrophic APS. Characterised by multi organ infarctions seen over days to weeks.
What serum results can we find in APS?
Thrombocytopenia and prolonged APTT (anti partial thromboplastin time)
What are the treatments for APS?
Thrombosis (lifelong anticoagulation)
Pregnancy loss is given aspirin and heparin
Attention is paid to vascular risk factors.
Why is warfarin not given to APS sufferers during pregnancy?
It is teratogenic.
Is Sjogrens a primary or secondary condition?
It can be either
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.
What is xerostomia?
Dryness in the mouth.
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
What must be present in order to diagnose Sjogrens?
4 of 6 of the classification criteria which must include either immunology or biopsy evidence.
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
What are some of manifestations of Sjogrens other than eye and mouth involvement?
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)
Renal tubular acidosis
Neonatal complete heart block (anti Ro)
What is the peak age for primary Sjogrens?
40-60 years old
Does Sjogrens affect males or females more?
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?
Does scleroderma affect males or females more?
What syndrome is scleroderma associated with?
What does CREST syndrome comprise of?
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?
What antibodies are associated with limited systemic sclerosis?
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?
What are the features of diffuse systemic sclerosis?
Skin changes within one year of raynauds
Truncal and acral skin involvement
Early significant organ involvement
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?
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.
Calcinosis (subcutaneous deposits)
What GI symptoms does systemic sclerosis?
Small bowel hypomobility and bacterial overgrowth
What Respiratory symptoms does systemic sclerosis?
Interstitial lung disease
Chest wall restriction
What renal issues does systemic sclerosis cause?
Hypertensive renal crisis
What cardiovascular issues does systemic sclerosis cause?
Raynauds with digital ulceration
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
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?
observed swollen hands
anti-U1-RNP over 1 in 10000
what are the 11 minor criteria for mixed connective tissue disease?
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.