Rheumatology and endocrinology Flashcards
What are the main treatments for inflammation?
Steroids - lots of S/E
Methotrexate
Biologics
- TNF inhibitors - etanercept, infliximab, adalimumab
Other biologic agents - rituximab, tocilizumab
What is juvenile idiopathic arthritis?
Onset before 16th birthday
No identifiable underlying cause - actively rule out other conditions
Persistent joint swelling (or painful restriction of movement) lasting at least 6 weeks
How is JIA diagnosed?
Blood
XR
History
Examination
What is the aim with JIA diagnosis?
Catch it early to prevent bony erosions of joint - these are irreversible and only treatment at this stage is joint replacement
What are the different types of JIA?
Oligoarticular - persistent/extended Polyarticular - RhF negative/positive Enthesitis Psoriatic arthrits Systemic arthritis
How does JIA present?
Persistent swelling Joint stiffness in morning Loss of ROM Pain Joint deformity Warmth Colour change
What is oligoarticular JIA?
= 4 joint
Often affects joints in lower limb
Examine from side and back as well as front
Persistent and extended
What is polyarticular JIA?
> 4 joints
Typically small joints
Occurs much more rapidly than oligoarticular
Why might children with JIA have growth abnormalities such as being taller on one side than the other?
Increased blood flow to areas of inflammation taking more GH to those areas - causes increased growth to areas of inflammation
What is a common complication of JIA?
Chronic anterior uveitis
What is chronic anterior uveitis?
Inflammation of uvea
Often a silent condition in children - no redness/pain
National screening programme every 3 months in those with JIA diagnosis with ophthalmologist
What is the problem with chronic anterior uveitis?
Can cause blindness
Can develop before arthritis and asymptomatic
What is psoriatic arthritis?
Psoriasis and arthritis together
Can appear at different points
Often runs in families
How is psoriatic arthritis diagnosed?
2 of
- First degree relative with psoriatic arthritis
- Pitting nails
- Dactylitis (single inflamed digit)
What is enthesitis related arthritis?
Like ankylosing spondylitis
Inflammation of enthesitis
Presents with plantar fasciitis and inflammation of sacroiliac joints
What are the symptoms of systemic arthritis?
Spiking daily fever
Rash - typically appears with fever
Lymphadenopathy
Hepatosplenomegaly
Serousitis - pericardial effusions, pleural effusions, ascites
Related to IL-6
Associated mortality to biologics first-line treatment
What is pGALS?
MSK screening examination for school age children - must be able to follow commands
What are the sections of pGALS?
Gait
Arms
Legs
Spine
What do you ask the patient to do in the gait section of pGALS?
Observe walking normally
On tiptoe
On heels
What do you ask the patient to do in the arms section of pGALS?
Spread fingers wide - highlights swelling
Finger tuck - assesses ROM
Thumb to little finger
Squeeze metatarsal heads
Prayer sign 90, painful if synovitis
Hands to ceiling and look up - neck extension first to go in JIA
Hands behind head
What do you ask the patient to do in the legs section of pGALS?
Patella tap, cross-fluctuance better
Heel should touch bum - bend knee
Flex hip to 90 without fully flexing knee
Internal rotation of hip v painful in groin if hip disease present
What do you ask the patient to do in the spine section of pGALS?
Tilt head to side Reach for sky (already done) Observe for scoliosis Confirm scoliosis on forward flexion Observe degree of lumbar flexion 3-finger jaw opening Jaw affected in up to 60% of all JIA patients at diagnosis
What is the normal range for fasting plasma glucose?
3.5-5.6 mmol/l
What is the normal range for post-prandial plasma glucose?
< 7.8 mmol/l
What test might you do for diabetes?
Oral glucose tolerance test
What fasting glucose is the definition of diabetes?
> 7.0 mmol/l
What post OGTT glucose level is the definition of diabetes?
> 11.1 mmol/l
What HbA1c is the definition of diabetes?
> 6.5%
What fasting glucose suggests impaired glucose tolerance/pre-diabetes?
< 7.0 mmol/l
What post-OGTT glucose level suggests impaired glucose tolerance/pre-diabetes?
> 7.8 but < 11.0 mmol/l
What HbA1c indicated impaired glucose tolerance/pre-diabetes?
5.7-6.4%
What HbA1c is normal?
4-5.6%
How common is diabetes in children?
Prevalence 1/700-1000 22,000 under 17 97% T1DM 1.5% T2DM 1.5% rarer type Very underdiagnosed
How is T1DM inherited?
If mother has it 2% risk If father has it 8% risk Both parents 30% risk Sibling 10% risk DZ twin 15% risk MZ twin 40% risk Fathers transmit T1 to offspring 2-3x more than mothers Mothers who develop diabetes before 8 transmit at same rate as diabetic fathers
What genes are involved in T1DM?
Around 20 identified
HLADR3
HLADR4
How is T2DM inherited?
Higher risk of transmission than T1
If either parent has T2 then 15% increase in risk
If both - 75% increase in risk
If non-identical twin has diabetes 10% increased risk
If identical twin has T2 then 90% increased risk
How does diabetic ketoacidosis occur?
Insulin deficiency and glucagon excess
Increase in blood ketones and blood glucose
Increase in blood ketones leads to vomiting and acidosis and increase in blood ketones and glucose leads to osmotic diuresis
Osmotic diuresis and vomiting lead to fluid and electrolyte depletion
Acidosis leads to cellular dysfunction
Acidosis and fluid and electrolyte depletion leads to cerebral oedema
Fluid and electrolyte depletion will lead to shock
How is DKA managed?
Fluids Insulin Monitor glucose hourly Monitor electrolytes especially K+ and ketones 2 hourly Very strict fluid balance hourly Hourly neuro obs New diagnosis bloods
What are the different categories of symptoms of hypoglycaemia?
Autonomic
Neuroglycopenia
What autonomic symptoms of hypoglycaemia might you get?
Irritable Hungry Nauseous Shakey Anxious Sweaty Palpitations Pallor
What neuroglycopenia symptoms of hypoglycaemia might you get?
Dizzy Headache Confused Drowsy Visual problems Hearing loss Problems concentrating Slurred speech Odd behaviour LOC Convulsions
How do you manage mild hypoglycaemia?
Check blood glucose
3-5 glucose tablets
100-200ml fizzy drink (not diet) or juice
60-100mls lucozade
Wait 10 mins - if no improvement repeat
Follow up with longer acting carb (bread/biscuit)
Check BG in 15 mins
How do you manage moderate hypoglycaemia?
As for mild if possible Too unwell 0.5-1 tube glucogel Wait 10 mins if no improvement repeat Follow up with longer acting carb (bread/biscuit) Check BG in 15 mins
How do you treat severe hypoglycaemia?
NBM Glucagon s/c or IM injection - If < 5 = 0.5mg - If > 5 = 1mg Wait 10 mins, when conscious give sugar
What is important to remember when treated hypoglycaemia?
Individual symptomatology Avoid fat Think of cause Does insulin need adjusting Hypo phenomena - Unawareness - Rebound
What is it important to educate families on with diabetes treated?
Injections Choice of device BG monitoring Altering insulin Hypoglycaemia Sick day rules Dietary guidance Carbohydrate counting Advice on exercise Frequent early contact - 24 hr - Novice to expert - Honeymoon period
What is important in diabetes management?
Support Education MDT input Liaison with school Contact details of PDSNs Frequent OPA Diabetes UK/local groups
Who is it important to provide education to in management of diabetes?
Child Family Carers School At education clinics Child to adult - taking control of their diabetes
What are the aims of diabetes management?
Normal growth and development
As normal a childhood as possible
Transition with optimal HbA1c to help prevent complications
Avoidance of XS or severe hypos
What medical issues for paeds are prevalent in diabetes management?
Growth
Puberty
Transition of autonomy
What is the morbidity and mortality of diabetes like?
Life expectancy reduced by 23 years
2-3x increase likelihood of early death - dead in bed syndrome
DKA 10x bigger killer than hypos
30-40% develop microalbuminuria
25% require laser treatment for retinopathy
Complications worse for paediatric T2
How is paediatric diabetes monitored?
HbA1c - 3 month profile
BG log book
AI screen
Glucose monitoring aim 4-7
What is it important to educate on other than insulin use?
Alcohol
Contraception
Knowledge - exercise, sick day rules
What do you need to examine in a diabetic check up?
Eyes Urine Feet BP Injection sites
What fluids should you give in DKA?
Normal maintenance fluids + correct deficit Correct over 48 hours Assume 5% deficit if pH 7.2-7.29 Assume 7% deficit if pH 7.1-7.19 Assume 10% deficit if pH < 7.1
What are the complications of DKA?
Cerebral oedema Shock Hypokalaemia Aspiration - vomiting Thrombus
Which symptoms come first in hypoglycaemia?
Autonomic
What is the long term management of diabetes?
Basal bolus insulin
Diet - carbohydrate counting
- Insulin to carbohydrate ratio 1 unit for every 15g
- Correction factor 1 unit to bring blood glucose down by 8 for BG of 6
Daily education from nurses and dieticians
What might indicate fragile bones in children?
Repeated fractures
What might cause bent bones in children?
Previous fracture
Under-mineralised
What might cause short bones in children?
Fractures
Under-mineralised
Dysplasia
What bone diseases do we see in children?
Fragile bones
Bent bones
Short bones
Dense bones
When are fractures more common?
Boys most likely to have fractures
Peak in boys 14-15
Peak in girls 11-12
Peaks correspond with peak growth velocity
In first year of life, equally likely to have fractures - look out for NAI
Why might boys be more likely to have fractures?
Boys bone weak and fragile?
Boys clumsy?
Take more risks
Higher growth rates predispose to fracture
Bone architecture puts them at increased risk of fracture
What is the definition of osteoporosis?
Disease characterised by low bone mass and michroarchitectural deterioration of bone tissue, leading to enhanced bone fragility and consequent increase in fracture risk
What is the definition of osteoporosis in children?
1 or more vertebral crush fracture
OR
Size-adjusted bone density < -2.0 SDS plus either
- 2 or more long bone fractures by age 10
- 2 or more long bone fractures by age 19
What are the inherited/congenital causes of osteoporosis in children?
Osteogenesis imperfecta
Inborn errors eg galactosemia
Haematological problems
Idiopathic
What are the acquired causes of osteoporosis in children?
Drug induced - especially steroids Major endocrinopathies Malabsorption Immobilisation Inflammation
How common is osteogenesis imperfecta?
Prevalence 1 in 16,000
How is osteogenesis imperfecta inherited?
Autosomal dominant in 85-90%
Mostly caused by defects in T1 collagen genes
What are the S&S of osteogenesis imperfecta?
Bone fragility Fractures Deformity Brittle bones Bone pain Impaired mobility - ligamentous laxity, sarcopenia Poor growth Deafness Hernias Valvular prolapse When very severe may be death in early life or pre-birth
How is osteogenesis imperfecta classified?
Sillence classification
What are the different types of osteogenesis imperfecta?
I - mild
II - lethal
III - progressively deforming, severe
IV - moderate
How is osteogenesis imperfecta managed?
MDT
- Physician - bone targeted drugs (bisphosphonates, complications), pain, associated medical problems
- Surgeon - long bones, spine, skull base, hearing, teeth
- Therapists, nurses - muscle strength/mobility, social, education
What do bisphosphonates seem to do for osteogenesis imperfecta?
Increased bone mass Reduction in fracture frequency Increased vertebral height Reduced pain Suppressed bone markers Increased overall mobility No adverse effect on growth
What is osteogenesis imperfecta?
Group of rare diseases affecting bone tissue and characterised by extremely fragile bones that break or fracture easily often without apparent cause
What causes rickets?
Vitamin D deficiency
Lack of sunlight and poor nutrition
What does vitamin D do?
Makes calcium available - increases calcium absorption from gut and release from bone
Maternal vitamin D influences bone size and mass in childhood
Roles in immune function/tolerance
What happens if you have maternal vitamin D deficiency and exclusive breast feeding?
Low vitamin D stores in newborn
Severe life-threatening cardiomyopathy, hypocalcaemia convulsions
Severe clinically apparent rickets eg metaphyseal swelling, bony deformity
Moderate radiological or biochemical changes
What can cause rickets?
Maternal vitamin D deficiency
Lack of exposure to sunlight
Lack of vitamin D in diet
Prolonged unsupplemented breast feeding
What children are most likely to get rickets?
Refugee children from muslim backgrounds - maternal vitamin D deficiency, poor diet
African families
How is rickets diagnosed?
Hx and examination
Tests - biochemistry, XRs
How does rickets present?
Metaphyseal swelling Bowing deformities Slowing of linear growth Motor milestones delay due to bone weakness Hypotonia Fractures Respiratory distress
Should mothers take vitamin D during pregnancy?
Yes
What is rickets?
Failure to mineralise new bone
Very weak bones
What biological disturbances might you get in rickets?
Low PO4 (fasting)
Serum Ca variable
Raised serum alkaline phosphatase
Raised PTH, low 25OH-D
How is rickets treated?
Treat underlying problem
Vit D deficiency cause hypocalcaemia - vit D and calcium (possibly give IV)
Vit D deficiency causing rickets - vit D (+/- calcium) - increasing dose with age/size
What does a high TSH in the heel prick test suggest?
Congenital hypothyroidism
What are the symptoms of congenital hypothyroidism?
Prolonged jaundice Sleeping longer/more often than usual Off feeds Large fontanel Constipation Large, swollen tongue Low muscle tine Swelling around eyes Poor/slow growth Cool, pale skin Large belly with navel sticking out Often asymptomatic when presents
What is pGALS useful for?
Fever Limp Motor milestone delay Clumsy Chronic disease with joint problems - IBD/HSP
What are the 3 questions you ask before pGALS?
Do you have any pains in any muscles of joints?
Do you have any problems getting dressed in the morning?
Do you have any trouble getting up or down the stairs?
What common conditions might you pick up in pGALS?
JIA Hypermobility Marfans/connective tissue disorder Scoliosis Henoch scholen purpura Psoriatic arthritis Isolated joint infection/septic arthrits
What positive findings might you see in a pGALS?
Dactylitis Tendon inflammation Scoliosis Knock-knees Leg length discrepancy
What are the implications for a child with JIA?
Daily medical treatment Special education Social services Limitations in daily activities Development Feeding Speech Surgery needs Separation/hospitalisation
What are the implications for parents and family with a child with JIA?
Mourning - despair, denial, guilt, anger/blame, acceptance
Shame
Rejection and anger at child
Whole set of extra tasks
Responsibilities and worries
Demands can take over family life
Impact of financial security and interfamily relationships
Who is part of the paediatric rheumatology team?
Nurse specialists Psychology Parents and family Daycare team Physiotherapy OT School Pharmacy GP Family support groups Social worker Adolescent and adult rheumatology consultant Transition team Paediatric and adolescent rheumatology consultant Other specialities Ophthalmology consultant
What are the aims of JIA treatment?
Induce remission - intraarticular steroids
Maintain remission - methotrexate
Escalation therapy - era of biologics
What health risk behaviours might you get in adolescents with chronic illness?
Experimental behaviour - hallmark of adolescence, necessary in cognitive development
Ill young people more likely to engage in risks
Related to non-adherence
What biological effect might chronic illness have on a child?
Delayed growth/puberty
What psychological effect might chronic illness have on a child?
Sick role
Regression
Mental health especially girls
Body image
What social effect might chronic illness have on a child?
Decreased independence
Failure of peer relationships
Poor school attendance
Family dynamics
What happens during adolescence that might affect their treatment of chronic illness?
Move from dependent child to independent adult
Biological and sexual maturation
Risk-taking behaviour
Development of abstract thinking and adult reasoning
Develop personal identity
Education and vocation
Brain development - starting the engine without training the driver
Transfer from paediatric to adult care
What are the key elements of transitional care?
Early start Key worker Written policy Written healthcare transition plan - personalised Flexible policy on timing Medical summary Training programme for professionals Education programme Development of patient's skills
How do you communicate with adolescents?
HEADDSS
- Home
- Education
- Activities
- Drugs and alcohol
- Depression and suicide
- Sexual health
- Spirituality/sleep/something else
