Musculoskeletal/Rheumatology Flashcards
Remind yourself of the different types of fracture- focusing on those common in children
Others include:
- Linear
- Avulsion
- Segmental
Why are children more prone to green stick & buckle fractures?
- Have more cancellous bone compared to adults who have more cortical bone hence children’s bone are more flexible but not as strong
- Greenstick: flexibility
- Buckle: less strength against compression
Children have a high capacity for bone remodelling; what are advantages of this when it comes to fractures?
Bone remodelling is the process where bone tissue is taken from areas of low tension and deposited in areas of high tension. This allows bone to change to the optimum shape for function. Bones in children have a high capacity for remodelling, which means that even if they are set at an incorrect angle, they will remodel over time to return to the correct shape.
Describe the Salter-Harris classification for growth plate fractures
Mnemonic “SALTR”
- Type 1: straight
- Type 2: above
- Type 3: below
- Type 4: through
- Type 5: crush
Principles of management of fractures in children is same as in adults; remind yourself of 3 principles of fracture repair
-
Fix
- Open reduction
- Closed reduction
-
Hold
- External casts
- K wires
- IM nails
- Screws
- Plates & screws
- Rehabilitate
Describe the WHO pain ladder for children
Which pain medications are not used in children and why?
WHO pain ladder:
- Step 1: paracetamol or ibuprofen (or both)
- Step 2: morphine (if child needs morphine you need to consider whether they need admission)
- Codeine and tramadol not used due to unpredictability in metabolism; this means their effects vary too much to make them a safe and effective option.
- Aspirin contraindicated in children under 16yrs due to risk of Reye’s syndrome (except certain circumstances e.g. Kawasaki disease)
State some potential causes of hip pain in the following age groups:
- 0-4yrs
- 5-10yrs
- 10-16yrs
**NOTE: there is some overlap
0-4yrs
- Septic arthritis
- Developmental dysplasia of hip (DDH)
- Transient synovitis
5-10yrs
- Septic arthritis
- Transient synovitis
- Perthes disease
10-16yrs
- Septic arthritis
- Slipped upper femoral epiphysis
- Juvenile idiopathic arthritis
State some red flags for hip pain in children
- Child under 3 years
- Fever
- Waking at night with pain
- Weight loss
- Anorexia
- Night sweats
- Fatigue
- Persistent pain
- Stiffness in the morning
- Swollen or red joint
When do NICE recommend urgent referral for assessment of a limping child?
- Child under 3 years
- Child older than 9 with a restricted or painful hip
- Not able to weight bear
- Evidence of neurovascular compromise
- Severe pain or agitation
- Red flags for serious pathology
- Suspicion of abuse
State some investigations you may do for a child with hip pain; for each state why
- Joint aspiration: septic arthritis
- FBC: raised WCC in septic arthritis
- CRP & ESR: inflammatory markers in septic arthritis, JIA
- Ultrasound: look for joint effusion
- X-rays: fractures, SUFE
- MRI: osteomyelitis
Septic arthritis can occur at any age; however, in what aged children is it most common?
0-4yrs
What is the most common causative organism in children with septic arthritis?
What are some other common causative organisms?
Most common= Staphylococcus aureus
Other bacteria:
- Neisseria gonorrhoea (sexually active teens)
- Group A streptococcus (Streptococcus pyogenes)
- Haemophilus influenza
- Escherichia coli
*Remember, S.aureus most common cause in adults too, followed by S.pneumoniae
Describe presentation of septic arthritis
Septic arthritis usually only affects a single joint. This is often a knee or hip. It presents with a rapid onset of:
- Hot, red, swollen and painful joint
- Refusing to weight bear
- Stiffness and reduced range of motion
- Systemic symptoms such as fever, lethargy and sepsis
Septic arthritis can be subtle in young children, so always consider it as a differential when a child is presenting with joint problems.
State some differential diagnoses for septic arthritis in children
- Transient synovitis
- Perthes disease
- Slipped upper femoral epiphysis
- Juvenile idiopathic arthritis
What investigations would you do for child with suspected septic arthritis?
- FBC: raised WCC
- U&Es: baseline
- LFTs: baseline
- CRP: raised
- Joint aspiration (for gram staining, crystal microscopy, culture & abx sensitivities)
- Blood culture: ?sepsis
What criteria can be used to help diagnose septic arthritis?
Kocher criteria
Discuss the management of septic arthritis
If suspect septic arthritis require admission to hospital & ortho involvement:
- Empirical IV abx e.g. IV flucloxacillin (switch to more specific once sensitivities known); abx usually for 3-6 weeks
- May require surgical drainage & washout
Transient synovitis (also known as irritable hip) is one of most common causes of hip pain in children aged 3-10yrs; discuss:
- What it is
- What is it usually associated with?
- Temporary inflammation & irritation in synovial membrane of joint
- Recent viral URTI
*NOTE: don’t typically have fever. If they have fever & joint pain need urgent investigations & management for septic arthritis
Discuss typical presentation of transient synovitis
Symptoms of transient synovitis often occur within a few weeks of a viral illness. They present with acute or more gradual onset of:
- Limp
- Refusal to weight bear
- Groin or hip pain
- Mild low grade temperature
Children with transient synovitis should be otherwise well. They should have normal paediatric observations and no signs of systemic illness. When other signs are present, consider alternative diagnoses.
Discuss the management of transient synovitis
- Exclude other differential diagnoses
- Symptomatic management with simple analgesia
- Can be managed in primary care if limp present for <48hrs and other diagnoses excluded; must give clear safety net advice and follow up between 48hrs-1 week later
Discuss prognosis of transient synovitis, include:
- How long it lasts for
- Any lasting problems/effects
- Recurrence
- Often significant improvement in 24-48hrs; symptoms fully resolve in 1-2 weeks
- No lasting problems
- Reoccur in 20%
For Legg-Calve-Perthes disease discuss:
- Common age of presentation
- Which gender most common in
- Cause
- Pathophysiology
- Mostly between 5-8yrs (but can occur in children aged 4-12yrs)
- More common in boys
- Idiopathic
- There is disruption of blood flow to femoral head leading to avascular necrosis of epiphysis. Over time there is revascularisation or neovascularisation and healing of femoral head alongside remodelling of bone as it heals
Describe typical presentation of Perthes disease
5-8yr old boy presenting with slow onset of:
- Pain in the hip or groin
- Limp
- Restricted hip movements
- There may be referred pain to the knee
- No history of trauma (NOTE: if history of minor trauma in older child think of SUFE)
What investigations may you do in suspected Perthes disease?
- Initial investigation= x-ray
- Others:
- FBC, CRP/ESR: exclude other causes
- Technetium bone scan
- MRI scan
Discuss the management of Perthes disease
Severity, and hence management, varies between pts. Aim to to maintain healthy position and alignment of joint to reduce risk of complications:
- Initial management in younger & less severe disease is conservative:
- Bed rest
- Traction
- Crutches
- Analgesia
- Physiotherapy to retain ROM
- Regular x-rays to assess healing
- Surgery may required in severe cases, older children or if bones are not healing
What it the main complication of Perthes disease?
- Soft, deformed femoral head leading to early hip OA
- Can also get premature fusion of growth plates
5% pts need total hip replacement
For slipped upper femoral epiphysis (SUFE)/ slipped capital femoral epiphysis (SCFE) discuss:
- What age common in (think about differences between genders)
- Which gender more common in
- Other risk factors
- What it is
*
- More common in boys and presents aged 8-15yrs
- Less common in girls and presents earlier at 11yrs
- More common in obese children
- Head of femur is displaced along the growth plate
Describe typical presentation of SUFE/SCFE
Typically adolescent, obese male who is going through growth spurt:
- History of minor trauma
- Hip, groin, thigh or knee pain
- Restricted ROM in hip
- Painful limp
- Restricted movement in hip
- On examination, prefer to keep hip in external rotation (and will have restricted internal hip rotation)
What investigations would you do if you suspect SUFE/SCFE?
- Initial investigation= x-ray hip (AP & lateral- typically frog leg view)
- Others (to exclude alternative pathology):
- FBC
- CRP/ESR
- Technetium bone scan
- MRI
- CT scan
Discuss the management of SUFE/SCFE
- Surgery: internal fixation typically using single cannulated screw in centre of epiphysis
For osteomyelitis, remind yourself:
- What it is
- Most common causative organism
- Risk factors
- Infection of bone & bone marrow
- Staphylococcus aureus
- More common in boys & children <10yrs (often have risk factor)
- Risk factors:
- Open bone fracture
- Orthopaedic surgery
- Immunocompromised
- Sickle cell anaemia
- HIV
- Tuberculosis
Describe typical presentation of osteomyelitis
Can present acutely with unwell child or more chronically with subtle features:
- Refusing to use the limb or weight bear
- Pain
- Swelling
- Tenderness
- High fever (if acute & spread to joint), low grade fever or afebrile
What investigations would you do if you suspect osteomyelitis, include:
- Initial investigation
- Best/gold standard investigation
- Others
- Initial investigation= x-ray (but can be normal)
- Best/gold standard= MRI
- Others:
- FBC, CRP/ESR
- Blood culture (important to find causative organism)
- Bone marrow aspirate
- Bone biopsy
Discuss the management of osteomyelitis
- Abx for 6 weeks (first line for acute osteomyelitis is flucloxacillin or clindamycin if penicillin allergic. Usually couple of weeks of IV then switch to oral. Diff abx if sickle cell)
- May require surgery for drainage and debridement
For osteosarcoma, discuss:
- Age typically presents in
- Most common bone affected
- 10-20yrs
- Most common bone affected= femur (other sites= tibia, humerus)
Describe typical presentation of osteosarcoma
- Persistent bone pain- worse at night time and may disturb or wake from sleep
- Bone swelling
- Palpable mass
- Restricted joint movements
What investigations would you do if you suspect osteosarcoma?
*include NICE guidelines about referral
-
Very urgent direct access x-ray within 48hrs if child presents with unexplained bone pain or swelling
- If x-ray suggests osteosarcoma need very urgent specialist assessment within 48hrs
- ALP blood test: raised
- CT scan
- MRI
- Bone scan
- PET scan
- Bone biopsy
Discuss the management of osteosarcoma
- MDT management
- Surgical resection of lesion (often with limb amputation)
- Adjuvant chemotherapy
*MDT involves: oncologists, surgeons, nurses, physio, OTs, psychology, dietician, prosthetics & orthotics, social services
State 2 main potential complications of osteosarcoma
- Pathological fractures
- Metastasis
What is talipes?
There are many types but state two common types
- Fixed abnormal ankle position present at birth (also known as clubfoot). Can occur in isolation or with syndromes.
- Types:
- Talipes equinovarus: ankle in plantar flexion & supination
- Talipes calcaneovalgus: ankle in dorsiflexion & pronation
What is positional talipes?
- Common condition in which resting position of ankle is in plantar flexion & supination but it is not fixed in this position and is no structural bone deformity in ankle although muscles around ankle are tight.
- Refer to physiotherapy for exercises; resolves with time.
Discuss the management of talipes
“Ponseti method”
- Start immediately after birth
- Foot manipulated towards normal position and then cast is applied
- This is repeated over and over until foot in correct position
- Achilles tenotomy performed at some point to release tension in Achilles tendon
- Once finished with cast treatment, brace is used to hold feet in correct position when not walking until child is ~4yrs “boots & bars”
If Ponseti method doesn’t work then may require surgery.
What is developmental dysplasia of the hip?
Abnormal fetal bone development in pregnancy resulting in structural abnormality in hips leading to instability of hips and tendency for subluxation & dislocation
State some risk factors for DDH
- Breech presentation
- Oligohydramnios
- Birth weight >5kg
- Congenital calcaneovalgus foot deformity
- First degree family history
- Female
- First born children
- Multiple pregnancy
DDH is often picked up on NIPE; state what you may find on NIPE that suggests DDH
- Different leg lengths
- Restricted hip abduction on one side
- Significant bilateral restriction in abduction
- Difference in the knee level when the hips are flexed
- Clunking of the hips on special tests
- Barlow:
- Ortalani
Describe Barlow & Ortalani tests
Barlow’s test
- Adduct the hip whilst applying light pressure on the knee with your thumb, directing the force posteriorly.
- If the hip unstable, femoral head will slip over the posterior rim of the acetabulum & produce palpable sensation of subluxation or dislocation (+ve test)
Ortolani’s Test
- Ortolani manoeuvre is then used to confirm the positive finding (i.e. that the hip actually dislocated)
- Flex the hips and knees to 90°
- With your index fingers placing anterior pressure on the greater trochanters abduct the infant’s legs using your thumbs.
- A positive sign is a distinctive ‘clunk’ which can be heard and felt as the femoral head relocates anteriorly into the acetabulum.
If you suspect DDH, what investigations should you do?
-
Ultrasound of hips
- Infants with risk factors or those with positive findings in newborn examination., Passmed says have routine US screening if 1st degree FH, breech at or after 36 weeks irrespective of presentation at birth, multiple pregnancy
- X-ray may is first line in infants >4.5 months
Discuss the management of DDH
- Pavlik harness (if diagnosis made before 6 months of age): kept on permanently and adjusted as baby grows. Keeps hips flexed & abducted to hold femoral head in acetabulum to allow it develop a normal shape. Child reviewed regularly & harness normally removed after 6-8 weeks.
- Surgery if harness fails or diagnosis made after 6 months of age. Wear a hip spica cast to immobilise hips after surgery.
State some potential complications of DDH
- Recurrent subluxation & dislocation
- Abnormal gait
- Early degenerative changes/OA
What is achondroplasia?
What mutation causes achondroplasia?
What is the inheritance pattern?
Homozygous or heterozygous?
- Type of skeletal dysplasia and is most common cause of disproportionate short stature (dwarfism)
- Mutation in FGFR3 gene on chromosome 4 (either sporadic [70%] or inheriting abnormal copy)
- Autosomal dominant
- If there is homozygous mutation this is fatal in neonatal period (so patients are heterozygous)
Why do mutations in FGFR3 gene cause achondroplasia?
- FGFR3 (fibroblast growth factor receptor 3) is involved in conversion of cartilage to bone
- In endochondral bone development, the mutation increases the fibroblast growth factor receptor-3 signalling, which interferes with chondrocyte proliferation and differentiation, adversely affecting the epiphysial (growth) plates.
Describe typical features of achondroplasia
- Disproportionate short stature (reduced limb lenght but normal trunk length; more proximal long bones are affected most)
- Short digits
- Trident hands (a hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape)
- Genu varum (bow legs)
- Flattened mid-face
- Flattened nasal bridge
- Frontal bossing
- Disproportionate skull
- Foramen magnum stenosis
Explain why pts with achondroplasia have a disproportionate skull
- Different areas of skull grow by different methods
- Skull base grows by endochondrial ossification which is affected by achondroplasia leading to flattened mid face, nasal bridge & foramen canal stenosis
- Cranial vault grows by membranous ossification which is unaffected by achondroplasia leading to normal sized cranial vault & frontal bossing
Achondroplasia is associated with numerous conditions; state some
- Recurrent otitis media, due to cranial abnormalities
- Kyphoscoliosis
- Spinal stenosis
- Obstructive sleep apnoea
- Obesity
- Foramen magnum stenosis can lead to cervical cord compression and hydrocephalus
Discuss the management of achondroplasia
- No cure
- Management involves MDT and is centred around supporting patient to develop and maximise functioning (ortho, ENT, paeds, physio, OT, dietitican, geneticist)
- Leg lengthening surgery can add height (cut bone and separate two parts and create gap between and eventually bone will form between two parts. Can lead to chronic pain & reduced function therefore controversial)
Discuss the prognosis of achondroplasia
- Normal life expectancy (if not affected by complications)
- Tendency to become overweight due to short stature
- Psychosocial implications of short stature
What is Osgood-Schlatter disease?
Discuss pathophysiology
- Knee pain due to inflammation at tibial tuberosity where patella tendon attaches to the tibia “tibial apophysitis”
- Pathophysiology:
- Patella tendon inserts into tibial tuberosity
- Tibial tuberosity is at epiphyseal plte
- Repetitive stress (e.g. from running, jumping etc..) on patella tendon can cause inflammation at tibial tuberosity and therefore of the tibial epiphyseal plate
- Multiple small avulsion fractures occur (if full avulsion fracture involving entire tibial tuberosity occurs needs surgery)
- Leads to growth of tibial tuberosity causing visible bump below knee
- Bump initially tender due to inflammation but as bone heals and inflammation settles becomes non-tender and hard
Describe presentation of Osgood Schlatter disease; include age & gender of presentation
Usually an adolescent (10-15yrs) male with unilateral symptoms (but can be bilateral):
- Pain in anterior knee
- Visible or palpable hard, tender lump at tibial tuberosity
- Pain exacerbated by physical activity, kneeling or extension of knee
Discuss the management of Osgood Schlatter disease
Management centred around reducing pain & inflammation:
- Reduction physical activity
- ICE
- NSAIDS
One inflammatory symptoms settled, stretching & physiotherapy can help strengthen joint & improve function
What is osteogenesis imperfecta also known as?
Why does it occur (i.e. what mutations)?
Inheritance pattern
- Brittle bone syndrome
- Caused by range of genetic mutations that affect collagen (8 types of osteogenesis imperfecta which vary in severity. 90% of OI is caused by a single dominant mutation in one of two type I collagen genes: COL1A1 or COL1A2)
- Autosomal dominant
Describe typical presentation of osteogenesis imperfecta
- Recurrent and inappropriate fractures
- Hypermobility
- Blue / grey sclera
- Triangular face
- Short stature
- Deafness from early adulthood
- Dental problems, particularly with formation of teeth
- Bone deformities, such as bowed legs and scoliosis
- Joint and bone pain
How do we diagnose osteogenesis imperfecta?
- Clinical diagnosis
- X-ray can help to diagnose fractures & bone deformities
- Genetic testing can be done but not done routinely
Discuss the management of osteogenesis imperfecta
Cannot cure; management involves MDT:
- Physiotherapy OT: maximise strength and function
- Paediatricians: medial treatment and follow up:
- Bisphosphonates (increase bone density)
- Vit D supplementation
- Orthopaedic surgeon: manage fractures
- Specialist nurses: advice and support
- Social workers: social and financial support
What is Kawasaki disease also known as?
What is Kawasaki disease?
Age group it affects
Is there a clear cause or trigger?
Who is it more common in?(2)
- Mucocutaneous lymph node syndrome
- Systemic, medium-sized vessel vasculitis
- Typically <5yrs
- No clear cause or trigger
- More common in boys & Asian children (particularly Japanese & Korean)
Describe symptoms & signs of Kawasaki disease
- Persistent high fever (>above 39 degrees for >5 days)
- Unhappy & unwell child
- Widespread erythematous maculopapular rash
- Erythematous palms and/or soles
- Desquamation on palms & soles
- Strawberry tongue (red tongue with large papillae)
- Cracked lips
- Cervical lymphadenopathy
- Bilateral conjunctivitis
What investigations would you do if you suspect Kawasaki disease?
- Urinalysis: may show increased WCC without infection
- FBC: anaemia, leucocytosis, thrombocytosis
- LFTs: hypoalbuminaemia, elevated liver enzymes
- Inflammatory markers (particularly ESR): raised
- Echocardiogram: may show coronary artery pathology
There are 3 phases to Kawasaki disease: acute, subacute and convalescent stage. Describe each including how long each stage lasts
Acute Phase
- Most unwell
- Fever, rash, lymphadenopathy
- 1-2 weeks
Subacute Phase
- Acute symptoms settle
- Get desquamation & arthralgia
- Risk of coronary artery aneurysm
- 2-4 weeks
Convalescent stage
- Remaining symptoms settle
- Investigation results normalise
- Coronary artery aneurysms regress
- 2-4 weeks
Discuss the management of Kawasaki disease
-
High dose aspirin: reduce risk of thrombosis
- This is continued during acute phase then reduce to low dose and continue for around 6 months
- IV immunoglobulins: reduce risk coronary artery aneurysms
*NOTE: Kawasaki disease one of few situations that we use aspirin for in children (as it causes Reye’s syndrome)
What is the key complication of Kawasaki disease?
- Coronary artery aneurysm
- Myocarditis
- Reye syndrome (due to aspirin use)
For Reye’s syndrome, discuss:
- What it is
- Causes
- Presentation
- Investigations
- Management
- Complications
- Reye’s syndrome affects all organs of the body but is most harmful to the brain and the liver–causing an acute increase of pressure within the brain and, often, massive accumulations of fat in the liver and other organs. Thought that it is due to damage to mitochondria resulting in liver losing it’s energy supply and toxic substances building up in blood.
- Exact cause unknown but most frequently affects those <20yrs who are recovering from viral infection who often had aspirin to treat
- Presentation:
- persistent or recurrent vomiting, irritability, disorientation or confusion, delirium, convulsions, and loss of consciousness
What is Henloch Schonlein Purpura (HSP)?
What 3 organs does it affect?
Most common age group affected?
Most common trigger?
- IgA mediated small vessel vasculitis that presents with purpuric rash affecting lower limbs & buttocks in children; inflammation occurs due to IgA deposits in blood vessels
- Skin, kidneys, GI tract
- Often triggered by URTI or gastroenteritis
- Most common children <10yrs
State 4 classic features of HSP and for each state what % of children with HSP have these features
- Purpura (100%): red/purple in colour, palpable under skin, normally start on legs and spread to buttocks, can also be on trunk & arms, if severe skin ulceration & necrosis may occur
- Arthralgia or arthritis (75%): mostly affects knees & ankles, joint may be swollen with reduced ROM
- Abdominal pain (50%): if severe can lead to GI haemorrhage, intussusception, bowel infarction
- IgA nephritis (50%): microscopic or macroscopic haematuria and proteinuria, if lots of protein (>2+ on dipstick) has nephrotic syndrome and will have oedema
****REMEMBER: purpura are non-blanching
State some differential for a non-blanching rash other than HSP
- Meningococcal septicaemia
- Leukaemia
- Idiopathic thrombocytopenic purpura
- Haemolytic uraemic syndrome
What investigations would you do if you suspect HSP?
Investigations are centred around excluding other pathology (see previous FC) and determining organ involvement:
- BP: nephritic syndrom
- Urine dipstick: haematuria, proteinuria
- Urine protein:creatine ratio: to quantify proteinuria
- FBC: thrombocytopenia, increased WCC in sepsis, pancytopenia in leukaemia
- Blood film: leukaemia
- CRP: sepsis
- Blood cultures: sepsis
- U&E’s: renal func
- Serum albumin: nephrotic syndrome
One criteria which can be used to diagnose HSP is the EUALR/PRINTO/PRES criteria; describe this criteria
Must have palpable purpura (not petechiae) and at least one of:
- Diffuse abdo pain
- Arthritis or arthralgia
- IgA deposits on biopsy
- Proteinuria or haematuria
Discuss the management of Henloch Schonlein Purpura
Supportive management:
- Simple analgesia
- Rest
- Hydration
Debate about whether to use steroids as evidence suggests they shorten duration of illness but do not affect long term outcomes or reoccurrence rate. May be considered if severe GI pain or renal involvement.
Close monitoring with repeated urine dipsticks & blood pressures.
Discuss the prognosis of HSP
- Abdo pain usually settles after a few days
- Pts without renal involvement can expect full recovery in 4-6 weeks
- ⅓ of pts have reoccurrence within 6 months
- Very small proportion develop ESRD
What is juvenile idiopathic arthritis (JIA)?
Autoimmune inflammation in joints of children and adolescents; diagnosed when there is arthritis without any other cause, lasting >6 weeks in a pt <16yrs.
*Also known as juvenile chronic arthritis, juvenile rheumatoid arthritis
State 5 subtypes of juvenile idiopathic arthritis
- Systemic JIA
- Polyarticular JIA
- Oligoarticular JIA
- Enthesitis related arthritis
- Juvenile psoriatic arthritis
For systemic JIA, discuss:
- What else it is known as
- Typical features
- Investigation findings
- Key complication
- Still’s disease
- Features:
- Subtle salmon-pink rash
- High swinging fevers
- Enlarged lymph nodes
- Weight loss
- Joint inflammation and pain
- Splenomegaly
- Muscle pain
- Pleuritis
- Pericarditis
- Inflammatory markers (CRP, ESR, Ferritin, platelets) will be raised
- Complication= macrophage activation syndrome (MAS)
For Macrophage Activation Syndrome (MAS), discuss:
- What it is
- How it presents
- Key investigation finding
- Activation of immune system with massive inflammatory response- life threatening
- Presents with an acutely unwell child with DIC, anaemia, thrombocytopenia, bleeding, non-blanching rash
- Low ESR
State some key non-infective differentials for a child presenting with fevers for >5 days
- Kawasaki disease
- Still’s disease (systemic juvenile inflammatory arthritis)
- Rheumatic fever
- Leukaemia
For polyarticular JIA, discuss:
- How many joints it involves
- Pattern of joints affected
- Whether there are any systemic symptoms
- Rheumatoid factor results
- 5 or more joints
- Symmetrical, can affect small joints (e.g. hands & feet) but also large joints (e.g. hip & knees)
- Minimal systemic symptoms but may be mild fever, anaemia, reduced growth
- Equivalent of RA in adults; can be seropositive (tends to be older children/adolescents) or seronegative
For oligoarticular JIA, discuss:
- What also known as
- How many joints involved
- Which joints commonly affected
- Which gender & age commonly affected
- Associated features
- Investigation results
- Pauciarticular JIA
- 4 joints or less (usually a single joint ‘monoarthritis’)
- Larger joints (e.g. knee, ankle)
- Girls <6yrs
- Anterior uveitis (refer to opthalmologist)
- Antinuclear antibodies often positive, inflammatory markers normal or mildly elevated, RF usually negative
For enthesitis-related JIA, discuss:
- What it can be thought of as
- Associated signs to look out for
- Who is most commonly affected
- Can be thought of as paediatric version of seronegative spondyloarthropathies (ankylosing spondylitis, psoriatic arthritis, reactive arthritis, IBD-related arthritis). Hence majority of pts have HLA B27 gene. Have inflammatory arthritis of joints aswell as enthesitis.
- Look for:
- Psoriasis symptoms/signs
- IBD symptoms
- Recent infections
- Boys >6yrs
For enthesitis-related JIA, discuss:
- What it can be thought of as
- Associated signs to look out for
- Who is most commonly affected
- Can be thought of as paediatric version of seronegative spondyloarthropathies (ankylosing spondylitis, psoriatic arthritis, reactive arthritis, IBD-related arthritis). Hence majority of pts have HLA B27 gene. Have inflammatory arthritis of joints aswell as enthesitis.
- Look for:
- Psoriasis symptoms/signs
- IBD symptoms
- Recent infections
- Boys >6yrs
For Juvenile psoriatic arthritis, discuss:
- What it is
- Typical patterns
- Associated signs on examination
- Seronegative inflammatory arthritis associated with psoriasis
- Pattern varies:
- Symmetrical polyarthritis affecting small joints
- Asymmetrical arthritis of large joints in lower limb
- Associated signs:
- Psoriasis plaques
- Nail pitting
- Onycholysis
- Dactylitis
- Enthesitis
For Juvenile psoriatic arthritis, discuss:
- What it is
- Typical patterns
- Associated signs on examination
- Seronegative inflammatory arthritis associated with psoriasis
- Pattern varies:
- Symmetrical polyarthritis affecting small joints
- Asymmetrical arthritis of large joints in lower limb
- Associated signs:
- Psoriasis plaques
- Nail pitting
- Onycholysis
- Dactylitis
- Enthesitis
Discuss the management of JIA
MDT management with aim of reducing inflammation in joints to minimise symptoms & maximise function:
- NSAIDs (e.g. ibuprofen)
- Steroids (e.g. PO, IM, IA)
- DMARDs (e.g. methotrexate, sulfasalazine, leflunomide)
- Biologics (e.g. infliximab, adalimumab)
What is rheumatic fever?
Multi-system disorder that affects joint, heart, skin & nervous system due to autoimmune response to group A beta haemolytic streptococci (streptococci pyogenes).
Discuss the pathophysiology of rheumatic fever
- Caused by group A beta haemolytic streptococci (typically streptococci pyogenes)
- Immune system creates antibodies
- Antibodies produced also match antigens on cells of persons body (e.g. those of myocardium)
- Resulting in type 2 hypersensitivity reaction
- Usually occurs 2-4 weeks after infection
Describe the presentation of rheumatic fever
- Hx of streptococcal infection (e.g. tonsillitis)
- Fever
- Joint pain (‘migratory arthritis’)
- Rash
- SOB
- Chorea
- Subcutaneous nodules (firm, painless nodules over extensor surfaces of joints)
- Erythema marginatum rash (pink rings of varying sizes over torso and proximal limbs)
- Tachycardia or bradycardia
- Murmurs
- Pericardial rub
- Heart failure signs & symptoms
What investigations should you do if you suspect rheumatic fever?
- Throat swab: for culture
- ASO antibody titres
- ECG
- Echocardiogram
- CXR
Discuss the how ASO titres change after an acute infection
After an acute infection the levels usually:
- Rise over 2 – 4 weeks
- Peak around 3 – 6 weeks
- Gradually falls over 3 – 12 months
ASO levels are usually repeated after 2 weeks to:
- Confirm a negative test
- Assess whether levels are rising or falling
What criteria can be used to diagnose rheumatic fever? Describe this criteria
Jones Criteria
- Two major OR
- One major + two minor
Major:
- Joint arthritis
- Organ inflammation
- Nodules
- Erythema marginatum rash
- Sydenham chorea
Minor
- Fever
- ECG changes (prolonged PR changes without carditis)
- Arthralgia
- Raised inflammatory markers (CRP & ESR)
***Mnemonic Jones Fear
Discuss the management of rheumatic fever
Refer immediately for specialist management:
- NSAIDS: joint pain
- Aspirin & steroids: carditis
- Prophylactic abx (oral or IM penicillin V):to prevent further streptococcal infections & recurrence of rheumatic fever- continue into adulthood
- Monitoring & managing other complications
State 3 potential complications of rheumatic feve
- Recurrence of rheumatic fever
- Valvular heart disease, most notably mitral stenosis
- Chronic heart failure
What is Ehlers-Danlos syndrome?
Umbrella term that includes a group of genetic conditions that cause a defect in collagen resulting in hypermobility and abnormalities in connective tissue (such as bones, skin, blood vessels & organs). There is no single mode of inheritance for hypermobile EDS but others are autosomal dominant. There are several types.
There are many types of EDS; state 4 types you should be aware of. Highlight which is most common
- Hypermobile EDS (most common & least severe)
- Classical EDS
- Vascular EDS
- Kyphoscoliotic EDS
Describe presentation of hypermobile EDS
- Joint hypermobility
- Joint pain after activity
- Frequent joint dislocations
- Soft, stretchy skin
- Easy bruising
- Poor healing
- Bleeding
- Headaches
- TMJ dysfunction
- Myopia
- Autonomic dysfunction (dizziness & syncope)
- GORD
- Abdo pain
- IBS
- Menorrhagia
- Dysmenorrhoea
- Premature rupture of membranes in pregnancy
- Urinary incontinence
- Pelvic organ prolapase
Describe presentation of classical EDS
- Very stretchy skin that is smooth & velvety
- Severe joint hypermobility
- Abnormal wound healing
- Lumps over pressure points
- Prone to:
- Hernias
- Prolpase
- Mitral regurgitation
- Aortic root dilation
Describe presentation of vascular EDS
- Thin translucent skin (almost see through)
- Skin, organs & arteries are fragile & prone to rupture
- Unusual facial features (such as a thin nose and lips, large eyes and small earlobes)
- Varicose veins
Describe presentation of Kyphoscoliotic EDS
- Hypotonia in neonate & infant
- Kyphoscoliosis as grow
- Joint hypermobility
- Tall & slim
- Risk of rupture of medium sized arteries
What scoring system can be used to assess hypermobility in EDS?
Beighton score
1 point scored for each side of body (max score of 9 as palms on floor is 1):
- Palms flat on floor with straight legs (score 1)
- Elbows hyperextend
- Knees hyperextend
- Thumb can bend to touch the forearm
- Little finger hyperextends past 90 degrees
Discuss the management of EDS
No cure, management focused on maintaining healthy joints, minimising symptoms and monitoring for complications. MDT management:
- Physiotherapy (including maintaining good posture, strengthening joints, avoiding injury, manage pain)
- Occupational therapy
- Moderating intensity of activity to minimise flares
- Psychology to help manage chronic condition & pain
- Genetic counselling
What syndrome can occur with hypermobile EDS?
Postural orthostatic tachycardia syndrome (POTS)
- Autonomic dysregulation
- Causes inappropriate tachycardia during changes of posture e.g. sitting up standing up
- Result sin pre-syncopal symptoms, syncope, headaches, disorientation, nausea, tremor
Describe typical features of growing pains
Growing pains are equally common in boys and girls and occur in the age range of 3-12 years.
Features of growing pains
- never present at the start of the day after the child has woken
- no limp
- no limitation of physical activity
- systemically well
- normal physical examination
- motor milestones normal
- symptoms are often intermittent
- worse after a day of vigorous activity
*****This is a misnomer as the pains are often not related to growth - the current term used in rheumatology is ‘benign idiopathic nocturnal limb pains of childhood’
