2- connective tissue disease

Question 1

what are connective tissue diseases?

Answer 1

conditions associated with spontaneous overactivity of immune system (to do with auto antibodies)
*NOT disease of connective tissue

Question 2

what is an important type of connective tissue disease?

Answer 2

systemic lupus erythematosus (SLE)

Question 3

what is SLE?

Answer 3

it’s a systemic autoimmune condition that can affect anywhere in body

Question 4

what is common age to present with lupus? what is buzzwordy age/sex?

Answer 4

anywhere from late teens to 3os 4os
buzzwords = women of child bearing age from chinese or african american heritage

Question 5

what are building blocks needed to get SLE?

Answer 5

need to have genetic predisposition AND certain triggers like smoking, hormonal factors, infection

Question 6

what is the pathway of SLE?

Answer 6

1. loss of immune regulation
2. increased & defective apoptosis which means cell contents float around longer than they should and immune system recognises cell contents as antigens
3. B & T cells stimulated and autoantibodies produced
4. complexes form and get deposited in blood vessel walls
5. activation of complement where cells are attracted causing inflammation & necrosis & scarring

Question 7

what are 2 components needed to diagnose lupus?

Answer 7

• scores of more than 10 (from EULAR/ACR score - just means multiple symptoms involved)
• autoantibodies present

Question 8

what are some key symptoms for SLE? (5 areas)

Answer 8

1. skin stuff →mouth, nasal ulcers. non scarring alopecia, skin rashes (malar flush rash, margin red and central clearing)
2. arthritis→synovitis or tenderness at at least 2 joints with more than 30 mins early morning stiffness = jaccoud’s arthritis (not fixed position arthritis, normal xray)
3. serositis = inflamed lining (lungs, heart)
4. haematological manifestations things go low = leukopenia, thrombocytopenia, haemolytic anaemia, lymphadenopathy
5. renal = any sign of blood or protein means lupus nephritis

Question 9

what autoantibodies can be tested for SLE?

Answer 9

• Antinuclear Antibodies (ANA): The hallmark antibody in SLE, but it is non-specific and can be positive in other conditions.
• Anti-dsDNA (Double-stranded DNA): More specific for SLE and linked to disease activity, especially lupus nephritis.
• Anti-Smith (Anti-Sm): Highly specific for SLE, though not always present. (if have = defo SLE)

Question 10

what is management of SLE?

Answer 10

• sun protective measures
• hydroxychloroquine →anti malarial drug. used to treat mild disease (DMARD)
• steroids →would want to only use for short term since lots side effects
• monitor using SLEDAI score (SLE disease activity index)
• if not enough can add immunosuppression like cyclophosphamide or rituximab

Question 11

what is systemic sclerosis?

Answer 11

example of connective tissue disease
characterised by hardening or thickening of skin (also has vascular damage as main component)

Question 12

what are symptoms of systemic sclerosis?

Answer 12

CREST
C = calcium deposits

R = raynaud’s

E= oesophageal dysfunction (acid reflux)

S = sclerodactyly (thickening & tightening of skin on fingers)

T = telangiectasis (dilation of capillaries causing red marks on surface skin)

Question 13

what are the 2 types of raynaud’s?

Answer 13

1. primary raynaud’s - as teenager no underlying condition, no change to blood vessel
2. secondary raynaud’s - as adult, could be underlying connective tissue, ulcers or gangrene present (never in primary)

Question 14

what are 2 types of systemic sclerosis?

Answer 14

1. diffuse (whole body can be involved)
2. limited (skin involvement below elbows & knees, face)

*don’t progress from one to other, only have 1 type

Question 15

what are some more serious complications of systemic sclerosis? (on top of CREST, the normal symptoms)

Answer 15

pulmonary hypertension, pulmonary fibrosis, scleroderma renal crisis

Question 16

if have secondary raynauds how would you treat?

Answer 16

with calcium channel blockers like amlodipine (as raynaud’s muscle spasm), botox injections or endothelin receptor antagonists like bosentan →these meds are vascular drugs (not immune ones) so will help raynauds and pulmonary hypertension

Question 17

if have pulmonary fibrosis for systemic sclerosis how would you treat?

Answer 17

immunosuppressive drugs

Question 18

if scleroderma renal crisis what drugs?

Answer 18

ACE inhibitors to inhibit RAAS

Question 19

what is sjogrens syndrome?

Answer 19

lymphocytic infiltration of exocrine glands (immune system attacks glands)

• causing keratoconjunctivitis sicca (eye dryness)

= loads of dryness, no saliva, no tears →gritty eyes, dry mouth, dry vagina

Question 20

what are some features/symptoms of sjogrens syndrome?

Answer 20

• blepharitis (inflammation of eyelids)
• salivary gland inflammation
• tooth decay
• lymphoma
• dry cough
• multisystem involvement

NOTE = NOT all patients with dry eyes & mouth have sjogrens!!

Question 21

what is renal complication of sjogrens?

Answer 21

renal tubular acidosis →urine becomes highly alkaline which can cause kidney stones

Question 22

what are important specific autoantibodies to test for sjogrens syndrome?

Answer 22

anti-Ro and anti-La
(can also do ANA)

Question 23

what is treatment for sjogrens disease?

Answer 23

• artificial tears & saliva
• tell them to go to dentist for specific toothpaste
• hydroxychloroquine (DMARD) for fatigue and arthralgia
• immunosuppression if major organ involvement

Question 24

what is antiphospholipid antibody syndrome?

Answer 24

= autoimmune connective tissue disease where immune system mistakenkly makes antibodies against proteins for phospholipids
= presence of antiphospholipid antibodies on 2 occasions 12 weeks apart (found on surface of RBCs) →leads to increased risk of blood clotting

Question 25

what is common sign in women of antiphospholipid antibody syndrome?

Answer 25

• recurrent miscarriage and fertility problems in women (because of thrombosis in placenta)

Question 26

what is signature feature of antiphospholipid antibody syndrome?

Answer 26

Livedo Reticularis (net like appearance because of capillary thrombosis)

Question 27

what is management of antiphospholipid antibody syndrome if
a) has major organ involvement?
b) if doesn’t?

Answer 27

a) immunosuppression
b) hydroxychloroquine & symptomatic management

*also:
- if thrombotic event = warfarin
- if no thrombotic event = aspirin

Question 28

what does any sign of blood or protein in urine (in SLE) suggest?

Answer 28

lupus nephropathy

Question 29

what is this a typical presenting history for?
- just back from holiday, serious rash, infection anywhere, loads of dermatology rash like malar rash, some arthritis

Answer 29

lupus - holiday think sun exposure (photosensitivity). infection everywhere - think systemic. malar rash - think butterfly

Question 30

what connective tissue disorder has these characteristic appearances on face - small mouth, puckered lips, beaked nose, lack of wrinkles?

Answer 30

systemic sclerosis