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Rheumatology > Connective tissue diseases > Flashcards

Connective tissue diseases Flashcards

1
Q

What connective tissue diseases exist?

A 
¬	SLE
¬	Anti-phospholipid syndrome
¬	Sjogrens syndrome
¬	Systemic sclerosis
¬	Dermatomyositis
¬	Polymyositis
¬	Mixed Connective Tissue Disease
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2
Q

SLE - what is this?

A

¬ Systemic autoimmune disease that can affect any part of the body.
Skin/joints/internal organs commonly affected
¬ As occurs in other autoimmune diseases, the immune system attacks the body’s cells and tissue, resulting in inflammation and tissue damage.
¬ Antibody-immune complexes precipitate and cause a further immune response.

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3
Q

What is the epidemiology of SLE:

  • females?
  • racial preponderance?
A

¬ Prevalence 20-150/100 000
¬ It affects females more than males 9:1
¬ Commoner in urban areas
¬ Prevalence is higher in Asians, Afro-Americans, Afro-Caribbeans and Hispanic americans compared with americans of european descent
¬ Commoner in Asian Indians than Caucasians in UK
Uncommon in African blacks

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4
Q

What is the aetiology of SLE

A 
A mixture of:
-immunological
-genetic
-hormonal
-environmental
factors
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5
Q

Describe the genetic factors involved in SLE?

A

¬ high concordance in monozygotic twins, increased incidence amongst relatives, identification of gene abnormalities predisposing to lupus

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6
Q

Describe the hormonal factors in SLE?

A

¬ incidence increased in those with higher oestrogen exposure - early menarche, on oestrogen containing contraceptives and HRT

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7
Q

Describe the environmental factors in SLE?

A

¬ Viruses eg Epstein-Barr Virus
¬ UV light may stimulate skin cells to secrete cytokines stimulating B-cells
¬ Silica dust (found in cleaning powders, cigarette smoke and cement) may increase risk of developing SLE

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8
Q

Describe the pathogenesis of SLE?

A

Often cells that have been killed break down and these broken down pieces and insides of the cells ‘float about’.
In lupus antibodies are created against this material = autoantibodies

¬ Primarily due to loss of immune regulation
¬ Increased and defective apoptosis (programmed cell death)
¬ Necrotic cells release nuclear material which act as potential autoantigens
¬ Autoimmunity possibly results by the extended exposure to nuclear and intracellular autoantigens – cell material ‘floats’ about for longer than it should.
¬ B and T cells are stimulated
¬ Autoantibodies are produced

These autoimmune complexes sit in basement membranes of blood vessels
=inflammatory response
= damage to the membranes

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9
Q

What classification criteria is used for SLE?

A

SLICC classification criteria for SLE

  • clinical critera
  • immunologic (ANA/Anti-DNA/Anti-Sm/Antiphospholipid/low complement (C3/C4/CH50)/direct coomb’s test)

have to have 4 or more criteria, at least one clinical and one immunologic

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10
Q

What consitutional symptoms are seen in SLE?

A 
¬	Fever
¬	Malaise
¬	Poor appetite
¬	Weight loss
¬	Fatigue
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11
Q

What mucocutaneous features are seen in SLE?

A

¬ Photosensitivity – rash that appears and lasts for days/weeks
¬ Malar rash
λ may or may not be associated with sun exposure
¬ Discoid lupus erythematosus – solely skin lupus
Scaly,well defined rash
¬ Subacute cutaneous lupus
This rash needs to be biopsied to confirm it is lupus

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12
Q

What MSK features are seen in SLE?

A

¬ Non-deforming polyarthritis/polyarthralgia
λ RA distribution but no radiological erosion
¬ Deforming arthropathy - Jaccoud’s arthritis
¬ Erosive arthritis - rare
¬ Myopathy - weakness, myalgia & myositis (muscle inflammation)

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13
Q

What pulmonary features are seen in SLE?

A 
¬	Pleurisy
¬	Infections
¬	Diffuse lung infiltration and fibrosis
¬	Pulmonary hypertension
¬	Pulmonary infarct
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14
Q

What cardiac features are seen in SLE?

A

¬ Pericarditis
¬ Cardiomyopathy
¬ Pulmonary hypertension
¬ Libman Sach endocarditis – sterile endocarditis (rare!)

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15
Q

What renal complication exists for SLE? What is done for SLE pts?

A

glomerulonephritis
-Have to do urinalysis on SLE patients for blood and protein in urine as kidney symptoms are litte/non-existant until it is too late!

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16
Q

What can be the presentation of glomerulonephritis in SLE?

A 
λ	Proteinuria
λ	Urine sediments
λ	Urine RBC and casts
λ	Hypertension
λ	Acute renal failure
λ	Chronic renal failure
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17
Q

What neurologic features are seen in SLE?

A

¬ Depression/psychosis
λ Not always related to disease activity

¬ Migranous headache

¬ Cerebral ischaemia
λ TIAs or stroke

¬ Cranial or peripheral neuropathy

¬ Cerebellar ataxia

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18
Q

What haematological features are seen in SLE?

A

¬ Lymphadenopathy
λ ~25% of all patients during their course of illness

¬ Leucopenia (low white cells)

¬ Anaemia
λ haemolytic
λ normochromic normocytic

¬ Thrombocytopenia (low platelets)

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19
Q

What intrinsic factors increase susceptability to infection in SLE patients?

A
  • low complement
  • impaired cell mediated immunity
  • defective phagocytosis
  • poor abody response to certain antigens
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20
Q

What extrinsic factors increase susceptability to infection in SLE patients?

A
  • Steroids
  • immunosuppressive drugs
  • nephrotic syndrome
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21
Q

What screening tests are done for SLE?

A 
¬	Full blood count 
¬	Renal function tests including 
   	 urine examination
¬	Anti-nuclear antibody (not everyone who has this has SLE)
¬	Anti-double stranded DNA antibodies
¬	ENA
¬	Complement levels

Anti-nuclear antibody - positive in >95% of patients, not specific
Anti-dsDNA antibody - specific and varies with disease activity
Anti-Sm - specific but low sensitivity
Anti Ro, anti-La and anti-RNP - may be seen in SLE but may also be seen in other conditions
C3/4 levels - low when disease active, especially renal disease

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22
Q

When should a +ve ANA test be taken seriously?

A

-this is positive in 95% SLE but also in 20% of normal population and other autoimmune conditions

-only take seriously if other antinuclear abodies of +ve:
Anti-dsDNA
Anti-Sm
Anti-Ro
Anti-RNP
When the patient presents with CTD features

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23
Q

Which autoantibody is highly specific for SLE? What does the titre correlate with?

A

anti-DsDNA

  • occurs in 60% of pts with SLE
  • titre correlates with overall disease activity
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24
Q

anti-ENA antibodies:

  • which is usually assoc. with cutaneous manifestations?
  • what else is this assoc. with?
A

anti-Ro

  • 60%
  • usually assoc. with anti-La
  • secondary sjogrens
  • congenital heart block and neonatal LE
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25
Q

anti-ENA antibodies - which is highly specific?

A

anti-Sm (10-20%)

-neurological involvement assoc.

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26
Q

Which anti-ENA antibody is assoc. with overlap features of sclerodermatous skin lesions, Raynaud’s phenomenon, low grade myositis

A

-Anti-RNP (30%)

27
Q

How is SLE activity monitored?

A

¬ Thorough clinical assessment including BP
¬ Anti-dsDNA level positively correlates with activity
¬ C3/C4 levels negatively correlate with activity
¬ Urine examination including protein, cells and casts
¬ Full blood count
¬ Blood biochemistry

28
Q

What is the drug treatment for SLE?

A
  • NSAID and simple analgesia
  • anti-malarials
  • immunosuppression
  • biologics
29
Q

What are anti-malarials used for?

A

¬ chloroquine and hydroxychloroquine
λ Useful for arthritis, cutaneous manifestations and constitutional symptoms
λ May reduce systemic complications
(everyone is put on hydroxycholoroquine)

30
Q

What is steroid treatment used for?

A 
λ	Very useful but long term use is associated with numerous side-effects
λ	Variable doses for different manifestations
¥	small doses (prednisolone <15 mg/d) for skin rashes, arthritis and serositis
¥	moderate doses (0.5 mg/kg/d) for resistant serositis,  haematologic abnormalities and class V GN
¥	high doses (1mg/kg/d or IV) for severe/resistant haematologic changes, diffuse GN and major organ involvement
31
Q

What immunosuppression is used? what are the complications of this?

A

¥ Azathioprine
¥ Cyclophosphamide
¥ Methotrexate
¥ Mycophenolate mofetil

¬ All can cause bone marrow suppression
¬ All can cause increased susceptibility to infection
¬ Potentially teratogenic

32
Q

What biologics are used for SLE?

A

¥ Anti-CD20 (Rituximab)

¥ Anti-Blys (Belimumab)

33
Q

What is the treatment in general for SLE:

  • mild disease
  • moderate disease
  • severe disease
A

Mild - skin disease:

  • HCQ
  • topical steroids
  • NSAIDs

Moderate - arthritis/some types organ involvement:

  • Oral steroid
  • Azathioprine
  • Methotrexate

Severe organ disease:

  • IV steroids
  • cyclophosphamide
  • rituximab
34
Q

Antiphospholipid syndrome:

-what is this characterised by?

A

¥ Positive anti-cardiolipin (anti-phospholipid) antibodies and / or lupus anticoagulant activity and / or anti-beta2-glycoprotein on 2 occasions at least 12 weeks apart.

¥ Arterial / venous thrombosis

¥ Pregnancy loss of with no other explanation 10-34/40 or 3 pregnancy losses with no other explanation <10/40 or 1 pre-term <34/40 because of eclampsia, severe pre-eclampsia or with signs of placental insufficiency
(one of these laboratory and one of these clinical features must be present to make diagnosis – must be interpreted in context)

Also:
There may be thrombocytopenia and prolongation of APTT.

35
Q

Who is affected by antiphospholipid syndrome?

A

¥ Responsible for 15% of cases of recurrent foetal loss and 20% of recurrent thrombosis in young people

¥ Occurs in young women M:F 1:3.5

36
Q

Who else can have anti-cardiolipin antibodies?

A

¥ ~30% people with SLE have anti-cardiolipin antibodies (may occur in other CTDs)

¥ 1-5% healthy population have anti-cardiolipin antibodies

37
Q

What other manifestations of antiphospholipid syndrome exist?

A

¥ Superficial thrombophlebitis and livedo reticularis
¥ Mild/moderate thrombocytopenia
¥ Neurological features – migraine , transverse myelitis
¥ Libman-Sacks endocarditis
¥ Catastrophic anti-phospholipid syndrome
⇒ Patient presents with severe cns involvement
⇒ Usually a patient has been on warfarin and then have been taken off it for some reason

38
Q

What is the treatment for antiphospholipid syndrome?

A

¥ Thrombosis – lifelong anti-coagulation
¥ Warfarin for anticoagulation
¥ These patients need a higher target INR
¥ In future yrs other newer anticoag. Drugs will take over (rivaroxiban)
¥ Pregnancy loss – aspirin + heparin during pregnancy
¥ Attention to vascular risk factors

39
Q

what is sjogrens syndrome?

A

¥ Autoimmune condition
¥ Lymphocyte infiltration of exocrine glands causing xerostomia and keratoconjunctivitis sicca
¥ May be primary or secondary to other autoimmune conditions

40
Q

What is the classification of sjogrens syndrome?

A

¥ Subjective ocular symptoms(daily for > 3 months)
¥ Subjective oral symptoms (daily for > 3 months)
¥ Objective evidence of ocular dryness
¥ Objective evidence of salivary gland involvement
¥ Immunology – either Ro, La or both
¥ Biopsy evidence of lymphocytic infiltrate
Need 4 of 6 and must include either immunology or biopsy evidence

41
Q

What clinical test can be done for sjogrens syndrome?

A

schirmers test

42
Q

What are other manifestations of sjogrens?

A 
¥	Fatigue 
¥	Arthralgia
¥	Raynauds
¥	Salivary swelling
¥	Lymphadenopathy
¥	Skin and vaginal dryness
¥	Interstitial lung disease
¥	Neuropathy
¥	Lymphoma (x40 risk)
¥	Renal tubular acidosis
¥	Neonatal complete heart block (anti-Ro)
43
Q

What is the peak age and gender preponderance of sjogrens?

A

¥ Peak age 40-60, M:F 1:9
¥ Serious complications very rare compared with other CTDs

¥ Prevalence ~1-3%
¥ Most undiagnosed

44
Q

What is the treatment of sjogrens?

A 
¥	Eye drops, punctal plugs
¥	Saliva replacement
¥	Pilocarpine
¥	Hydroxychloroquine
¥	Steroids and immunosuppression 
¥	Attention to cardiovascular risk factors
45
Q

What is systemic sclerosis?

A

Systemic sclerosis (SSc) is a multisystem autoimmune disease in which there is increased fibroblast activity resulting in abnormal growth of connective tissue. This causes vascular damage (vasculopathy – raynaud’s syndrome) and fibrosis. Fibrosis (excess deposition of collagen in skin and internal organs) occurs in skin, the gastrointestinal (GI) tract and other internal organs.

46
Q

What are the two types of systemic sclerosis?

A

Limited
(previously known as CREST – Calconosis, Raynaud’s, Esophageal dysmotilty, Sclerodactyly, Telangiectasia)
¥ Features as above BUT pulmonary hypertension in ~30%
¥ Other systemic features may rarely occur
¥ Associated with anti-centromere antibodies

Diffuse
¥ Skin changes within 1 year of Raynaud’s
¥ Truncal and acral skin involvement
¥ Early significant organ involvement (kidneys, lungs, gut, muscle, joints, heart)
¥ Anti-Scl-70 antibodies

Raynauds phenomenon is a common early finding and it is unusual to have the condition without Raynauds.

Cutaneous involvement has 3 phases: (1) oedematous, (2) indurative, and (3) atrophic. Skin becomes thickened and tight.

Features are divided into major and minor:

Major: includes centrally located skin sclerosis that affects the arms, face, and/or neck

Minor: includes sclerodactyly and atrophy of the fingertips and bilateral lung fibrosis.

A diagnosis is made when a patient has 1 major and 2 minor features.

47
Q

What signs are seen in the hand with systemic sclerosis?

A

o Swelling (non-pitting oedema) of fingers and toes - a common early sign; digits may look sausage-like; hand movement may be limited.
o Skin becomes hard and thickened - this may limit joint movement or cause joint contractures; in the fingers, this is known as sclerodactyly.
o Swelling and sclerosis reduce hand movements, so patients may be unable to make a fist, or to place the palmar surfaces together - the ‘prayer sign’.
o Fingertips may have pitting, ulcers or loss of bulk from finger pads.
o Raynaud’s phenomenon. This is the most common symptom and is present at some point in 90% of cases. Raynaud’s phenomenon with puffy fingers is thought to be a cardinal sign of likely SSc.[5]

48
Q

What is calcinosis?

A

nodules or lumps of chalky material which may break through the skin.

49
Q

What signs are seen in the face and mouth in systemic sclerosis?

A

o Tightening of facial skin.

o Tight lips (microstomia) - can make dental hygiene difficult.

50
Q

What general skin signs are seen in systemic sclerosis?

A

Telangiectasia.

Salt and pepper’ appearance of skin, due to areas of hypopigmentation and hyperpigmentation.

Dry or itchy skin; reduced hair over affected skin areas.

51
Q

What GI manifestations are seen in systemic sclerosis?

A

¥ Oesophageal hypomobility
¥ Small bowel hypomobility, bacterial overgrowth
¥ Pancreatic insufficiency
¥ Rectal hypomobility

52
Q

What respiratory manifestations are seen in systemic sclerosis?

A

¥ Interstitial lung disease
¥ Pulmonary hypertension
¥ Chest wall restriction

53
Q

What renal manifestations are seen in systemic sclerosis?

A

¥ Hypertensive renal crisis

¥ Ischaemic

54
Q

What cardiovascular manifestations are seen in systemic sclerosis?

A

¥ Raynaud’s with digital ulceration
¥ Atherosclerotic disease
¥ Hypertensive cardiomyopathy

55
Q

What is the peak age and M:F preponderance of systemic sclerosis?

A

¥ Peak age 25-55
¥ Prevalence 1:10,000
¥ M:F 1:4

56
Q

What treatments exist for systemic sclerosis?

A 
¥	Calcium channel blockers - raynauds
¥	Prostacyclin (Iloprost) - raynauds
¥	ACE inhibitors - renal involvement
¥	Prednisolone
¥	Immunosuppression - interstitial lung disease
¥	Bosentan, Sildenafil - raynauds
¥	PPI for reflux
57
Q

What is mixed connective tissue disease?

A

defined by various combinations and minor and major criteria:

Major Criteria

¥	Severe myositis.
¥	Pulmonary involvement.
¥	Raynaud's phenomenon.
¥	Swollen hands observed.
¥	Sclerodactyly.
¥	Anti-U1-RNP >1:10,000.

Minor Criteria

¥	Alopecia
¥	Leukopenia
¥	Anaemia
¥	Pleuritis
¥	Pericarditis
¥	Arthritis
¥	Trigeminal neuralgia
¥	Malar rash
¥	Thrombocytopenia
¥	Mild myositis
¥	History of swollen hands
58
Q

What autoantibodies are found in SLE?

A

ANA, Anti-DNA binding, Anti-Sm, Anti-Ro and La

59
Q

What autoantibodies are found in sjogrens syndrome?

A

Anti-Ro and La

60
Q

What autoantibodies are found in systemic sclerosis?

A

Anti- centromere, Anti-scl-70

61
Q

What auto-antibodies are found in mixed connective tissue disease

A

Anti-RNP

62
Q

What auto-antibodies are found in polymyositis?

A

Anti-Jo-1

63
Q

What auto-antibodies are found in anti-phospholipid syndrome?

A

Anti-cardiolipin antibodies, lupus anti coagulant

Rheumatology (10 decks)

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