2- connective tissue disease Flashcards
what are connective tissue diseases?
conditions associated with spontaneous overactivity of immune system (to do with auto antibodies)
*NOT disease of connective tissue
what is an important type of connective tissue disease?
systemic lupus erythematosus (SLE)
what is SLE?
it’s a systemic autoimmune condition that can affect anywhere in body
what is common age to present with lupus? what is buzzwordy age/sex?
anywhere from late teens to 3os 4os
buzzwords = women of child bearing age from chinese or african american heritage
what are building blocks needed to get SLE?
need to have genetic predisposition AND certain triggers like smoking, hormonal factors, infection
what is the pathway of SLE?
- loss of immune regulation
- increased & defective apoptosis which means cell contents float around longer than they should and immune system recognises cell contents as antigens
- B & T cells stimulated and autoantibodies produced
- complexes form and get deposited in blood vessel walls
- activation of complement where cells are attracted causing inflammation & necrosis & scarring
what are 2 components needed to diagnose lupus?
- scores of more than 10 (from EULAR/ACR score - just means multiple symptoms involved)
- autoantibodies present
what are some key symptoms for SLE? (5 areas)
- skin stuff →mouth, nasal ulcers. non scarring alopecia, skin rashes (malar flush rash, margin red and central clearing)
- 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)
- serositis = inflamed lining (lungs, heart)
- haematological manifestations things go low = leukopenia, thrombocytopenia, haemolytic anaemia, lymphadenopathy
- renal = any sign of blood or protein means lupus nephritis
what autoantibodies can be tested for SLE?
- 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)
what is management of SLE?
- 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
what is systemic sclerosis?
example of connective tissue disease
characterised by hardening or thickening of skin (also has vascular damage as main component)
what are symptoms of systemic sclerosis?
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)
what are the 2 types of raynaud’s?
- primary raynaud’s - as teenager no underlying condition, no change to blood vessel
- secondary raynaud’s - as adult, could be underlying connective tissue, ulcers or gangrene present (never in primary)
what are 2 types of systemic sclerosis?
- diffuse (whole body can be involved)
- limited (skin involvement below elbows & knees, face)
*don’t progress from one to other, only have 1 type
what are some more serious complications of systemic sclerosis? (on top of CREST, the normal symptoms)
pulmonary hypertension, pulmonary fibrosis, scleroderma renal crisis
if have secondary raynauds how would you treat?
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
if have pulmonary fibrosis for systemic sclerosis how would you treat?
immunosuppressive drugs
if scleroderma renal crisis what drugs?
ACE inhibitors to inhibit RAAS
what is sjogrens syndrome?
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
what are some features/symptoms of sjogrens syndrome?
- blepharitis (inflammation of eyelids)
- salivary gland inflammation
- tooth decay
- lymphoma
- dry cough
- multisystem involvement
NOTE = NOT all patients with dry eyes & mouth have sjogrens!!
what is renal complication of sjogrens?
renal tubular acidosis →urine becomes highly alkaline which can cause kidney stones
what are important specific autoantibodies to test for sjogrens syndrome?
anti-Ro and anti-La
(can also do ANA)
what is treatment for sjogrens disease?
- artificial tears & saliva
- tell them to go to dentist for specific toothpaste
- hydroxychloroquine (DMARD) for fatigue and arthralgia
- immunosuppression if major organ involvement
what is antiphospholipid antibody syndrome?
= 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
