MSK + Rheumatology

infant abnornmalities seen in orthopaedics

spina bifida

proximal femoral focal deficiency

TAR syndrome

thalidomide poisoning

congenital scoliosis

metatarsus adductus

infantile postural scoliosis

plagiocephaly

Talipes-Equino virus

prerequisites of normal gait

1. stability in stance

2. clearance in swing

3. preposition of foot

4. adequate step length

5. energy conversation

what is characteristic of a walking gait

single support and double support

what is characteristic of a running gait

double swing

gait cycle

defined from initial contact of one limb to subsequent initial contact of same limb

what is physiological varus and when is it seen up to

bow legs, seen up to 18 months

which immunological process best explains the rheumatoid factor

IgM antibody against the Fc portion of the patient’s own IgG

what is physiological valgus and when is it seen up to

knock knees

between 18 months and 7 years

MSK issues that cause concern in children

bow legs

flat feet

curly toes

late walkers

what is femoral anteversion

femoral neck leans forward with respect to the rest of the femur causing the leg to rotate internally.

Internal rotation of the femur - 40 degrees at birth

seen in school age

what is internal tibial torsion

internal rotation of the tibia and an in-toeing gait.

thigh foot angle > 10 degrees

seen in infants < 4

what is metatarsus adductus

the medical term for in-toeing

seen in newborns

treatment is stretches

flexible flat feet

normal at birth due to fat foot pad and lax ligaments diminishes with age

- no benefit of insoles

how to examine a child with an intoed gait

• Assess the Thigh-Foot Angle: This helps identify Internal Tibial Torsion.

• Assess Femoral Anteversion: This is a developmental norm where the femur is rotated; 80% of children reach a normal degree of rotation by age 16.

• Check Foot Flexibility: For metatarsus adductus, if the foot is flexible, splintage is not required.

• Note Progression: Clinicians should know that intoeing does not improve in children with neuromuscular disease

what is cadence

number of steps taken per unit of time and is the rate at which a person walks expressed in steps per minute

100-115

how much is your eye moving during normal gait cycle

16 frames per second

velocity

distance/time

-mean velocity (m/min) = step length (m) x cadence (steps/min)

stride length vs stride period and step length

step length = right initial contact to left initial contact

stride length = the distance from right heel contact to the following right heel contact.

stride period/cycle time =  the period of time in seconds from initial contact of one foot to the following initial contact of the same foot.

what is comfortable walking speed

80 m/min

minimum energy consumption per unit distance

what is curly toes

3rd or 4th tie have tight flexor tendons - mostly a cosmetic issue

mean walking age

12 months

when would a child be referred to paediatric orthopaedics

5 S's

- symptoms

- symmetry - lack of

— stiffness

- syndromes

- systemic illness

bone or joint pain that is worse at night is what until proven otherwise?

considered infection or tumour

which of the following are characteristic of walking in old age:

a - up to ¼ loss of joint range by 65 y/o

b - decreased cadence

c - reduced step length

d - reduced ankle plantarflexion

e - impaired balance

a - up to ¼ loss of joint range by 65 y/o

c - reduce step length

d - reduced ankle plantarflexion

e - impaired balance

cadence does not change

what is spastic diplegic

form of spastic Cerebral Palsy that primarily affects movement in the legs. It causes muscle stiffness, tightness, and jerky movements

what is polymyalgia rheumatics

SUDDEN onset inflammatory condition that causes pain and stiffness in shoulders, pelvic girdle and neck

presentation of PMR

relatively rapid onset but symptoms need to be present for at least 2 weeks to consider PMR diagnosis

- pain and stiffness in shoulder (elbow and upper arm too), pelvic girdle and neck

characteristics of stiffness and pain in PMR

worse with movement

interferes with sleep

takes at least 45 mins to ease in morning

difficulty in daily activities e.g. getting dressed

associated features of PMR

systemic symptoms - weight loss, fatigue, low grade fever

muscle tenderness

carpal tunnel syndrome

peripheral oedema

diagnosis of polymyalgia rheumatica

•Compatible history

•Age > 50

•ESR/plasma viscosity high

•Dramatic steroid response

EULAR/ACR classification criteria for polymyalgia rheumatica

• Morning stiffness duration >45 min: 2 points.

• Hip pain or limited range of motion: 1 point.

• Absence of Rheumatoid Factor (RF) or Anti-citrullinated protein antibodies (ACPA): 2 points.

• Absence of peripheral joint pain (other joint involvement): 1 point

imagine for PMR

•Ultrasound

•MRI

•CT PET

–Subacromial subdeltoid bursitis

–Long head biceps tendinitis

investigations for mimics of polymyalgia rheumatic

•Myalgic onset Inflammatory joint disease – CCP ab

•Inflammatory muscle disease – CK (normal in PMR)

•Hypo/ hyperthyroidism - TFTs

•Bilateral shoulder capsulitis - imaging

•Fibromyalgia

•Check bone profile and vitamin D – important for muscle strength

important to rule out in PMR

giant cell arteritis (temporal arteritis)

Underlying malignancy

e.g., multiple myeloma (immunoglobulins), lung cancer

what blood tests need to be done before initiating steroid therapy

FBC

U&Es

LFTs

calcium

serum protein electrophoresis for myeloma

TSH

CK for myosotis

RF for RA

urine dipstick

additional investigations that are commonly done with PMR

ANA for SLE

anti-CCP for RA

CXR

urine bence jones protein for myeloma

treatment of PMR

prednisolone

- 15mg daily initially - follow up after 1 week

how long does steroid treatment for PMR usually last

1-2 years - reducing regime

- 15mg until symptoms controlled

- 12.5mg for 3 weeks

- 10mg for 4-6 weeks

- reducing by 1mg every 4-8 weeks

steroid sparing treatment for refractory Polymyalgia rheumatica

•Cs DMARDs

–Methotrexate

–(Azathioprine)

•bDMARDs

•Activated dendritic cells – CD4+ T cells – IL6 (and macrophage activation)

–Tocilizumab  (Jak inhibitors)

additional management for patients on long term steroids - don't STOP mnemonic

don't - steroid dependence occurs after 3 weeks and suddenly stopping causes ADRENAL CRISIS

S = sick day rule - steroid dose increase if patient becomes unwell

T = treatment card - patient should carry steroid treatment card to alert others they are on steroids incase of emergency

O = osteoporosis - biphosphonates and calcium and vitamin D for prevention

P = PPI considered e.g. omeprazole

50% of patients with giant cell arthritis may have…

so what will you ask them

polymalgia rheumatica

if they have headache, vision changes, jaw pain

crystal deposition disease are characterised by

deposition of mineralised material within joints and peri-articular tissue

crystal deposition diseases commonly seen in practice

•Monosodium urate - gout

•Calcium pyrophosphate dihydrate (CPPD) - Pseudogout

•Basic calcium phosphate hydroxy-apatite (BCP) – calcific periarthritis/tendonitis

complete deficiency of HGPRT leads to

Lesch-Nyhan syndrome

X chromosome-linked recessive genetic disorder

intellectual disability

aggressive and impulsive behaviour

self harm

gout

renal disease

-lack of recycling of purines

what causes over production of uric acid

malignancy

severe exfoliative psoriasis

drugs

• ethanol

• cytotoxic drugs

HGPRT deficiency

inborn errors of metabolism

causes of hyperuricaemia that can lead to gout

High purine diet (red meat, seafood)

renal impairment

hypertension

hypothyroid

alcohol

drugs

• low does aspirin

• diuretic

• ciclosporin

exercise, starvation, dehydration

lead poisoning

what is tophus-tophi

massive accumulations of uric acid

gold standard investigation for mono-arthritic joint

synovial fluid aspiration and analysis

name and description of gout crystals

monosodium urate

needle-shaped crystals

management of acute flare of gout

NSAIDs

colchicine

steroids - intraarticular injection, IM injection, oral

long term management of gout - 1st attack not treated unless

–Single attack of polyarticular gout

–Tophaceous gout

–Urate calculi

–Renal insufficiency

long term management of gout - treat if 2nd attack within..

1 year

•Prophylactically prior to treating certain malignancies

do you treat asymptomatic hyperuricaemia?

NO

just monitor until a flare

in recurrent gout flares, what is your uric acid target

300-360

drugs that lower uric acid

xanthine oxidase inhibitor - allopurinol, febuxostat

uricosuric agents - probenecid, benzbromarone

IL-1 inhibitor - canakinumab

paradoxical flare in gout

an acute attack that occurs shortly after starting urate-lowering therapy (ULT) like allopurinol. Although the medication is meant to prevent flares, the rapid reduction of uric acid causes existing, solid tophi crystals to dissolve and release, triggering intense inflammation. This requires co-prescription of preventive medicine e.g., colchicine or NSAIDs

rules for lowering uric acid levels

1. Wait until the acute attack has settled before attempting to reduce the urate level

2. Use prophylactic NSAIDs or low dose colchicine/steroids until urate level normal - Prophylactic treatment for at least one month after last dose adjustment has been made.

3. Adjust allopurinol dose according to renal function

most common part of body affected by pseudogout and gout

pseudogout - knee

toe - gout

pseudogout affects who mainly

elderly females

pseudogouut triggers

trauma

intercurrent illness

causes of pseudogout

idiopathic

familial

metabolic

pseudogout

form of arthritis triggered by deposits of calcium crystals (calcium pyrophosphate dihydrate) in the joints.

erratic flare

rhomboid shaped crystals

pyrophosphate crystals

management of pseudogout

NSAIDs

intra-articular steroids

*no preventative therapies

chondrocalcinosis

deposition of calcium pyrophosphate crystals in joint cartilage

what is SLE

multisystem autoimmune disorder related to antibody-mediated cellular attack and deposition of antigen-antibody complexes

aetiology of SLE

genetics - polygenic mode of inheritance

hormones

environment - UV, drugs, infection

pathogenesis of SLE

immune response against endogenous nuclear antigens - break in immunological tolerance

immune complex formation

tissue injury

- type 3 hypersensitivity

symptoms of SLE

- any 4 for diagnosis

malar rash (butterfly rash)

discoid rash (raised, scarring, permanent marks, alopecia)

photosensitivity

oral ulcers

arthritis (2 joints at least)

serositis (pleurisy or pericarditis)

renal (significant proteinuria or cellular casts in urine)

neurological (unexplained seizures or psychosis)

haematological (low WCC, platelets, lymphocytes and haemolytic anaemia)

immunological (anti ds-DNA, Sm, cardiolipin, lupus anticoagulant, low complement)

ANA

lupus nephritis - SLE kidney - classs I-VI

I - minimal mesangial

II - mesangial proliferative

III - focal

IV - diffuse

V - membranous

VI - advanced sclerosing

when to consider SLE

woman of childbearing age with: -

- constitutional symptoms of fever, weight loss, malaise and severe fatigue

- skin rash and/or stomatitis

- arthritis

- pleuritic chest pain

- renal disease

- cytopenia

what autoantibodies are seen in SLE

ANA

anti ds-DNA

anti-Sm

anti-Ro - neonatal lupus

anti-phospholipid antibodies

• anti-cardiolipin, lupus anticoagulant

what is systemic sclerosis

Rare disorder characterized by diffuse fibrosis and of skin and internal organs. Caused by immune damage to endothelial cells which causes inflammation followed by fibrosis.

aetiology of systemic sclerosis

environment - silica, solvents, viral infections

genetics

pathogenesis of systemic sclerosis

vascular damage

immune system activation and inflammation

fibrosis

which scleroderma has better prognosis

localised scleroderma

-patches of thick sclerosed skin (morphia)

-linear scleroderma - bands of fibrous tissue

subsets of systemic sclerosis

limited - anti-centromere antibodies, pulmonary HTN and GI

diffuse - anti Scl70 antibodies, pulmonary fibrosis, renal crisis and small bowel bacterial overgrowth

limited cutaneous slceroderma - CREST

C - calcinosis: Calcium deposits forming under the skin

R - raynaud’s Phenomenon: Blood vessels in fingers/toes spasm, turning them white or blue in response to cold or stress.

E - esophageal Dysfunction: Acid reflux and difficulty swallowing due to muscle dysfunction.

S - sclerodactyly: Skin thickening and tightening on the fingers, making them stiff.

T - telangiectasia: Small red spots (dilated blood vessels) on the face, hands, chest

how does Sjrogens syndrome present

dry eyes and mouth

salivary gland biopsy

parotid enlargement

systemic upset

- fatigue, fever, myalgia, arthralgia, dry skin

what antibodies are associated with Sjrogens syndrome

anti-Ro and anti-La

complications of sjrogens syndrome

uLymphoma

uNeuropathy

uCutaneous vasculitis

uInterstitial lung disease

uRenal tubular acidosis

what are the autoimmune myositis'

polymyositis and dermatomyositis

myositis

what is there an increased risk of in polymyositis and dermatomyositis

increased risk of malignancy

so always screen for cancer

how does myositis present

muscle weakness - symmetrical and proximal

raised creatinine kinase

EMG, MRI and muscle biopsy

interstitial lung disease - anti Jo1 antibodies

cutaneous - Gotrons papules, Heliotrope rash

what are the overlap syndromes

mixed connective tissue disease

• Raynauds

• soft tissue swelling/sclerodactylyl

• myositis

• arthralgia

what are vasculitides

Group of vascular disorders that cause inflammatory injury.

classification criteria for GCA

any 3 of: -

- age of onset >50

- new headache

- temporal artery tenderness/ reduced pulsation

- ESR >50

- abnormal temporal biopsy

investigations for giant cell arteritis

temporal artery biopsy

ultrasound doppler - within 5 days

CT angio, MR angio

FDG PET - aortic involvement

complications of GCA

irreversible visual loss

aortic aneurysm

arterial stenosis and limb ischaemia

stroke

treatment of GCA

prednisolone 40-60mg per day - gradually tapered + PPI and bone protection

-steroid sparing medication used to reduce long-term steroid dependence

what are the types of ANCA associated vasculitis

granulomatosis with polyangitis

microscopic polyangitis

eosinophilic granulomatosis with polyangitis

what is granulomatosis with polyangitis

necrotising granulomatosis inflammation

usually involving upper and lower respiratory tract

hearing loss, sinusitis and haemoptysis

what antibodies are involved with granulomatosis with polyangitis

cANCA, anti-PR3 antibodies

what glomerulonephritis is associated with granulomatosis with polyangitis

necrotising glomerulonephritis

what is microscopic polyangitis

necrotising vasculitis with few or no immune deposits, mainly affecting small vessels

granulomatous inflammation is absent

-renal and pulmonary involvement

antibodies associated with microscopic polyangitis

pANCA, anti-MPO antibodies

what is eosinophilic granulomatosis with polyangitis

eosinophil rich necrotising granulomatosis inflammation often involving respiratory tract

late onset asthma, nasal polyps, eosinophilia

- small to mediums vessels

neurological involvement

cardiac and GI involvement

presentation of eosinophilic granulomatosis with polyangitis

late onset asthma

nasal polyps

eosinophilia

necrotising vasculitis

neuro involvement

cardiac and GI give poor prognosis

MPO antibodies +ve

treatment options for foot and ankle conditions

analgesia

shoe wear modification and activity modification

weight loss

physio

orthotics

surgery - last resort

first, second and third of gait

first - eccentric (lengthening) contraction of anterior compartment muscles

second - eccentric (lengthening) contraction of plantar flexors

third - concentric (shortening) contraction of plantarflexors