Rheumatology Flashcards
what is SLE (systemic lupus erythematosus)
inflammatory autoimmune connective tissue disease
has varying and non-specific symptoms
more common in women and Asians, usually presents in young to middle aged adults but can present later in life
pathophysiology of SLE
anti-nuclear antibodies, antibodies to proteins within the person’s own cell nucleus
results in chronic inflammation, resulting in a shortened life expectancy
presentation of SLE
fatigue
weight loss
arthralgia
myalgia
fever
photosensitive malar rash, livedo reticularis, discoid rash
lymphadenopathy, splenomegaly
SOB
pleuritic chest pain
mouth ulcers
hair loss
Raynaud’s
autoantibodies associated with SLE
anti-ANA (99% of patients will have this, good rule out test, but positive in other conditions as well e.g. autoimmune hepatitis)
anti-dsDNA = specific to SLE
20% of patients have rheumatoid factor positive
diagnosis of SLE
SLICC criteria/ ACR criteria
confirming antinuclear antibodies and a certain number of clinical features suggestive of SLE
babies whose mothers have anti-Ro and anti-La antibodies are at an increased risk of developing what?
neonatal lupus
monitoring SLE investigations
ESR, (CRP during active disease may be normal)
complement levels C3 & 4 decreased
anti-dsDNA titre levels used for monitoring
treatment for SLE
anti-inflammatory medication and immunosuppression
first line:
NSAIDs
Steroids e.g. prednisolone
Hydroxychloroquine (first line for mild SLE)
suncream and sun avoidance
more resistant/severe lupus:
methotrexate
azathioprine
leflunomide
then biological therapies e.g. rituximab, belimumab
what is spared regarding the malar rash in SLE
nasolabial folds
risk factors for osteomalacia
darker skin
reduced sun exposure
chronic kidney disease
malabsorption disorders e.g. IBD
drug induced e.g. anticonvulsants
inherited
pathophysiology of osteomalacia
vitamin D = a hormone created from cholesterol by the skin in response to UV radiation
inadequate vitamin D results in lack of calcium and phosphate in the blood as it is not absorbed from the intestines and kidneys
low calcium causes a secondary hyperparathyroidism
complications of SLE
** all due to chronic inflammation
CVD - hypertension, coronary artery disease resulting in leading cause of death
Infection
Anaemia of chronic disease = chronic normocytic anaemia
Pericarditis
Pleuritis
Interstitial lung disease = pulmonary fibrosis
Lupus nephritis
Neuropsychiatric SLE = optic neuritis, transverse myelitis, psychosis
Recurrent miscarriage
what is osteomalacia
defective bone mineralisation causing soft bones secondary to low vitamin D levels
if this occurs in growing children it is termed rickets
what organ is responsible for metabolising vitamin D to its active form
kidneys
presentation of osteomalacia
fatigue
bone pain
bone/muscle tenderness
muscle weakness
fractures e.g. especially femoral neck
proximal myopathy = waddling gait
investigations for osteomalacia
vitamin D deficiency (<25nmol/L)
low calcium, low phosphate
high ALP
secondary hyperparathyroidism
x-rays may show osteopenia (more radiolucent bones)
management of osteomalacia
supplementary vitamin D (colecalciferol)
** a loading dose often needed initially
calcium supplementation if dietary calcium inadequate
what is polymyalgia rheumatica?
inflammatory condition causing pain and stiffness in the shoulders, pelvic girdle, and neck
strong association with giant cell arteritis
demographics associated with polymyalgia rheumatica
older age >50 yrs
more common in women, Caucasians
features of polymyalgia rheumatica
should be present for at least 2 weeks: usually rapid onset
bilateral shoulder pain that may radiate to the elbow
bilateral pelvic girdle pain
worse with movement
interferes with sleep
stiffness for at least 45 mins in the morning
** weakness is not a symptom
can be associated with fever, night sweats, low mood, anorexia, fatigue
investigations for polymyalgia rheumatica
inflammatory markers e.g. CRP, ESR are raised, but diagnosis mainly based on clinical presentation and response to steroids
treatment for polymyalgia rheumatica
started on 15mg of prednisolone
if 3-4 weeks has given a good response, then start a reducing regime, aim is to get patient off steroids
long term steroids advice: Don’t STOP
don’t stop taking steroids after 3 weeks as will have become steroid dependant and don’t want an adrenal crisis
S = sick day rule, increase steroid dose if become unwell
T = treatment card to alert others
O = osteoporosis, think about prophylaxis with biphosphonates, calcium, vitamin D
P = PPI
what is antiphospholipid syndrome
acquired disorder resulting in a hyper-coagulable state where they have a predisposition to venous and arterial thromboses
associated with recurrent miscarriages and thrombocytopenia
can occur on its own or secondary to an autoimmune condition e.g. SLE
autoantibodies associated with antiphospholipid syndrome
lupus anticoagulant
anticardiolipin antibodies
anti-beta-2-glycoprotein I antibodies
features of antiphospholipid syndrome
VTE = DVT, PE
Arterial thromboses = stroke, MI, renal thrombosis
pregnancy complications = recurrent miscarriage, stillbirth, pre-eclampsia
livedo reticularis
thrombocytopenia
prolonged APTT
Libmann-Sacks endocarditis = non-bacterial endocarditis with growths on the valves, particularly mitral valve
management of antiphospholipid syndrome
primary thromboprophylaxis = low dose aspirin
secondary =
initial venous and arterial events, lifelong warfarin with INR of 2-3
recurrent venous = warfarin INR 3-4, consider adding aspirin
if pregnant = low molecular weight heparin e.g. enoxaparin, and aspirin
What is psoriatic arthritis
Form of inflammatory arthritis, associated with psoriasis
Occurs in 10-20% of patients
Part of the seronegative spondyloarthropathy
What is rheumatoid arthritis
An autoimmune condition that causes chronic inflammation of the synovial lining of the joints, tendon sheaths, and bursa
Form of inflammatory arthritis
Symmetrical polyarthritis
Demographics of RA
More common in women
Develops in middle age, but can present at any age
FHx increases the risk
Patterns of affected joints in PA
Symmetrical poly arthritis = hands, wrists, ankles, and DIP joints
MCP joints are less effected, unlike in RA
Asymmetrical pauciarthritis = affecting mainly the digits and feet (when the arthritis only affects a few joints)
Spondylitic pattern = often seen in men, causing back stiffness, sacroilitis, Atlanta-axial joint involvement
Other areas can be affected = spine, Achilles’ tendon, plantar fascia
Nail signs and other associated signs of PA
Pitting of nails
Psoriatic plaques
Onycholysis
Dactylitis
Enthesitis (point of insertion of tendons onto bones)
Eye disease = conjunctivitis, anterior uveitis
Aortitis
Amyloidosis
What is the varying severity of PA
mild stiffening or soreness
Or the joint can be completely destroyed in arthritis mutilans
What screening tool is recommended for PA
PEST
Psoriatic epidemiological screening tool
What is arthritis mutilans
Most severe form of psoriatic arthritis occurring in the phalanxes
There is osteolysis of the bones around the joint in the digits, leading to progressive shortening of the digit and the skin folds
‘Telescopic finger’
Changes seen on X-ray in psoriatic arthritis
Dactylitis (soft tissue swelling)
Osteolysis
Periostitis
Pencil in cup appearance
Management of PA
NSAIDs for pain
DMARDs e.g methotrexate (treats skin plaques as well), leflunomide, sulfasalazine
Anti-TNF e.g. etanercept, infliximab, adalimumab
Last line = ustekinumab, a monoclonal antibody targeting interleukin 12 and 23
What is the seronegative spondyloarthropathy group?
No RF autoantibody present
Group of conditions associated with the HLAB27 gene
Other conditions in this group include psoriatic arthritis and reactive arthritis
What is ankylosing spondylitis
An inflammation condition that causes pain and stiffness of the spine
Tends to be a young male in their last teens or 20s
Affects the vertebral column and sacroiliac joints
What can ankylosing spondylitis look like on X-ray?
The condition can progress to fusion of the spine and sacroiliac joints, where it can lead to bamboo spine on X-ray
Features of ankylosis spondylitis
Lower back pain and stiffness
Sacroiliac pain in the buttock region
** present insidiously, gradually over 3 months
Worse with rest and improves with movement, interferes with sleep at night
Takes around 30 minutes to overcome the stiffness in the morning
Other associations of ankylosing spondylitis
Apical fibrosis
Anterior uveitis
Aortic regurgitation
Achilles tendinitis
AV block
Amyloidosis
Also associated with systemic symptoms such as weight loss and fatigue
Chest pain = due to inflamed Costovertebral and Costosternal joints
Enthesitis
Clinical examination findings in ankylosing spondylitis
Reduced lateral flexion
Reduced chest expansion
Schobers test:
Find L5 vertebrae and mark a point 10cm above and 5cm below
Get patient to bend forward as much as they can, if the space between the points is less than 20cm they have lumbar restriction
Investigations for ankylosing spondylitis
Inflammatory markers e.g. ESR, CRP
X-ray =
Squaring of the vertebral bodies
Ossification of the ligaments, discs, and joints = single central radiodense line, dagger sign
Syndesmophytes = bony growths
Fusion of joints, sacroilitis presents as sclerosis of joint lines
CXR - apical fibrosis
Spirometry may show a restrictive defect
Management of ankylosing spondylitis
Encourage regular exercise e.g. swimming
Physiotherapy
Avoid smoking
NSAIDs for pain
Steroids can be used during flares to control symptoms
Anti-TNF e.g. etanercept,
** persistently high disease activity despite conventional treatment
Autoantibodies involved in RA
Rheumatoid factor: targets Fc of the IgG, causes activation of the immune system against immunoglobulins, causing systemic inflammation
anti-CCP = more sensitive and specific, often predate development of RA
Presentation of RA
Symmetrical distal polyarthropathy
Pain, swelling, stiffness of joints
Complain of this in the small joints of the hands and feet, wrist, ankle, MCP, PIP
Can present with larger affected joints e.g. knee, shoulder, elbow
Insidious onset
Stiffness worse in the mornings, takes longer than 30 mins to go away
Worse after rest, improves with activity
Systemic symptoms = fatigue, weight loss, flu like illness, muscle aches and pains
What is palindromic rheumatism?
self limiting short episodes of inflammatory arthritis, causing joint pain, swelling, and stiffness typically affecting only a few joints
Lasts only 1-2 days and then resolves, having positive antibodies may indicate it will progress to full RA
Signs of RA in the hands
Boggy feeling of joints
Z shaped deformity of thumb
Swan neck deformity
Boutonnières deformity
Ulnar deviation at MCP
What causes Boutonnières deformity?
Due to a tear in the central slip of the extensor components of the fingers.
when the patient tries to straighten their finger, the lateral tendons that go around the PIP (called the flexor digitorum superficialis tendons) pull on the distal phalynx without any other supporting structure, causing the DIPs to extend and the PIP to flex.
poor prognosis in RA patients
Autoantibodies positive
Poor functional status at presentation
Quick onset and younger
X-ray = early erosions < 2 years
Extra articulate manifestations e.g. nodules
HLA DR4 gene
Extra articular manifestations of RA
Pulmonary fibrosis
Bronchiolitis obliterans
Anaemia of chronic disease
CVD
carpal tunnel syndrome
Episcleritis and scleritis
Felty’s syndrome (splenomegaly, RA, neutropenia)
Secondary Sjögren’s syndrome
RA ocular manifestations
keratoconjunctivitis sicca (Dry eyes - most common)
Episcleritis (erythema)
Scleritis (erythema and pain)
RA pulmonary manifestations
Pulmonary fibrosis
Pulmonary nodules
Bronchiolitis obliterans
Caplans syndrome (nodules with occupational coal dust exposure)
Methotrexate pneumonitis
Investigations for RA
Autoantibodies
ESR, CRP
Baseline bloods = FBC, U&Es, LFTs
X-ray of hands and feet
USS to detect synovitis if unsure
Diagnosis & monitoring of RA
ACR score > 6
Includes joints involved (smaller joints score higher), serology, inflammatory markers, duration of symptoms (>6 weeks)
DAS28 score: monitoring
Assessment of 28 joints, points are given for swollen joints, tender joints, inflammatory markers
Management of RA
DMARD monotherapy + bridging course of prednisolone
** steroids can be used at first presentation and flares of disease
NSAIDs for pain, as well as PPI
MDT = physio, OT, psychology, podiatry
Mono therapy DMARD
Then 2 used in combination
Then methotrexate + biological therapy, usually TNF inhibitor
4th line = methotrexate + rituximab
Surgery regarding joint deformity and functionality
What are the DMARDs used in RA
Methotrexate, leflunomide, sulfasalazine
hydroxychloroquine (considered in mild disease, mildest DMARD)
Sulfasalazine & hydroxychloroquine considered safe in pregnancy
Why do pregnant women tend to have an improvement in symptoms in RA?
Higher natural production of steroid hormones
Biological therapies used in RA
Anti-TNF = adalimumab, etanercept, infliximab
Anti-CD20 = rituximab
Side effects of RA treatment
Anti - TNF = immunosuppression, so can cause serious infections. Can also cause reactivation of dormant infections e.g TB, hep B
Methotrexate = bone marrow suppression and leukopenia, liver toxicity, teratogenic
Leflumomide = hypertension, peripheral neuropathy (** take pyrimidine) teratogenic
Sulfasalazine = male infertility (reduces sperm count)
Hydroxychloroquine = nightmares, reduced visual acuity
Rituximab = vulnerability to severe infections, thrombocytopenia, night sweats
Regime of taking methotrexate
Once a week orally or IV, 5mg of folic acid to be taken on a different day
Examples of small vessel vasculitis
Henoch-Schonlein purpura
Eosinophilic granulomatosis with polyangitis (Churg-Strauss Syndrome)
Microscopic polyangitis
Granulomatosis with polyangitis (Wegener’s granulomatosis)
Examples of medium sized vessel vasculitis
Kawasaki disease
Polyarteritis nodosa
Eosinophilic granulomatosis with polyangitis
Examples of vasculitis affecting large vessels
Giant cell arteritis
Takayasu’s arteritis
General presentation of vasculitis
Purpura (non blanching spots)
Arthralgia and myalgia
Peripheral neuropathy
Renal impairment
GI disturbance e.g. diarrhoea, abdominal pain, bleeding
Anterior uveitis and scleritis
Hypertension
Systemic:
Fatigue
Fever
Weight loss
Anorexia
Anaemia
Each type can have specific features
Investigations for vasculitis
Inflammatory markers e.g. ESR, CRP
ANCA
p-ANCA = microscopic polyangitis, Churg-Strauss syndrome
C-ANCA = wegener’s granulomatosis
Antibodies associated with ANCA
PANCA = MPO
CANCA = PR3
What is Henoch-Schonlein purpura
IgA mediated vasculitis
Inflammation occurs due to IgA deposits in the blood vessels of affected organs e.g. skin, kidneys, GI tract
Most common in children under age of 10
Cause of henoch schonlein purpura
Often triggered by an upper airway infection e.g. tonsillitis or gastroenteritis
Presentation of henoch schonlein purpura
Purpura (100%) - inflammation and leaking of blood from small blood vessels
**affects lower limbs/buttocks in children, extensor surfaces of arms and legs
Joint pain
Abdominal pain
Renal involvement (causes IgA nephritis in 50% of patients e.g. haematuria)
Management of henoch schonlein purpura
Supportive e.g. simple analgesia, rest, and proper hydration
Self limiting condition
BP and urinalysis should be monitored to detect progressive renal involvement
1/3 of patients have a relapse within 6 months
What is eosinophilic granulomatosis with polyangiitis
Small and medium sized vasculitis
Commonly called Churg-Strauss syndrome
Most associated with lung and skin problems, can affect other organs such as kidneys
Presentation of eosinophilic granulomatosis with polyangiitis
Often presents with severe asthma in late teenage years/adulthood
Paranasal sinusitis
Mononeuritis multiplex
Characteristic finding is elevated eosinophils
what may precipitate eosinophilic granulomatosis with polyangiitis
leukotriene receptor antagonists
what is microscopic polyangiitis
small vessel vasculitis
main feature is renal failure
can also affect the lungs causing dyspnoea & haemoptysis
what is granulomatosis with polyangiitis (Wegener’s granulomatosis )
small vessel vasculitis affecting the respiratory tract & kidneys (autoimmune condition)
upper respiratory tract = nose bleeds, nasal crusting, sinusitis
**saddle shaped nose due to a perforated nasal septum
lower respiratory tract = dyspnoea, haemoptysis, cough
glomerulonephritis
also: vasculitic rash, eye involvement (proptosis), cranial nerve lesions
investigations for granulomatosis with polyangiitis
pANCA
CXR = wide variety of presentations, may present as consolidation being mistaken as pneumonia, or cavitating lesions
renal biopsy = epithelial crescents in Bowman’s capsule
management of GPA
steroids
cyclophosphamide
plasma exchange
median survival time = 8-9 years
what is polyarteritis nodosa
medium vessel vasculitis
associated with hepatitis B infection, but can have no clear cause or be associated with hepatitis C or HIV
more common in middle aged men
necrotising inflammation leading to aneurysm formation
features of polyarteritis nodosa
fever, malaise, arthralgia
weight loss
hypertension
mononeuritis multiplex
testicular pain
livedo reticularis**
hematuria, renal failure
complications of polyarteritis nodosa
renal impairment, strokes, and MIs
investigations for polyarteritis nodosa
pANCA
hepatitis B serology
angiogram - shows beading associated with aneurysms
what is kawasaki disease
large vessel vasculitis mainly seen in children, typically under 5 years old
no clear cause
features of kawasaki disease
persistent fever >5 days
erythematous rash
bilateral conjunctivitis
strawberry tongue
erythema and desquamation of palms & soles
cervical lymphadenopathy
bright red, cracked lips
management of kawasaki disease
high dose aspirin
IV immunoglobulins
echocardiogram
complication of kawasaki disease
coronary artery aneurysm
what is takayasu’s arteritis
large vessel vasculitis
mainly affects the aorta, its branches, and the pulmonary arteries causing occlusion
more common in younger females (10-40) and Asians
features of takayasu’s arteritis
systemic features of vasculitis e.g. headache, malaise, muscle aches, fever
absent/weak peripheral pulses
unequal blood pressure in upper limbs
carotid bruit & tenderness
upper/lower limb claudication on exertion
aortic regurgitation (20%)
association of takayasu’s arteritis
renal artery stenosis
investigations for takayasu’s arteritis
CT/MRI angiography
Doppler USS of carotids
management of TA
steroids
general management of vasculitis
steroids/immunosuppressants
e.g. oral(prednisolone)
IV (hydrocortisone)
nasal sprays
inhaled for lung involvement e.g. eosinophilic granulomatosis with polyangitis
immunosuppressants e.g.
methotrexate
cyclophosphamide
azathioprine
rituximab & other monoclonal antibodies
