Paediatrics Rheumatology Flashcards
What is juvenile idiopathic arthritis (JIA)?
Condition affecting children and adolescents where autoimmune inflammation occurs in the joints
When is JIA diagnosed?
Arthritis without any other cause lasting more than 6 weeks in a patient under age of 16
What is juvenile idiopathic arthritis also known as?
Juvenile chronic arthritis
Juvenile rheumatoid arthritis
What are the features of JIA?
Inflammatory arthritis:
- Joint pain
- Swelling
- Stiffness
What are five key subtypes of JIA (associated with different blood tests)?
Systemic JIA
Polyarticular JIA
Oligoarticular JIA
Enthesitis related arthritis
Juvenile psoriatic arthritis
What is systemic JIA also known as?
Still’s disease - systemic illness that can occur throughout childhood
What are the features of systemic JIA?
Subtle salmon pink rash
High swinging fever
Enlarged lymph nodes
Weight loss
Joint inflammation and pain
Splenomegaly
Muscle pain
Pleuritis and pericarditis
What are the blood test findings in systemic JIA?
Raised inflammatory markers (CRP, ESR)
Raised platelets and serum ferritin
ANA and rheumatoid factors are typically negative
What is a complication of systemic JIA?
Macrophage activation syndrome (MAS) = severe activation of the immune system, causing:
- Disseminated intravascular coagulation (DIC)
- Anaemia
- Thrombocytopenia
- Bleeding
- Non-blanching rash
What is a key finding in macrophage activation syndrome?
Low ESR
What are the key non-infective differentials in children with fevers for more than 5 days?
Kawasaki disease
Still’s disease
Rheumatic fever
Leukaemia
What is polyarticular JIA?
Idiopathic inflammatory arthritis in 5 joints or more
Which joints are affected in polyarticular JIA?
Symmetrical - small joints of hands and feet and large joints e.g. hips and knees
What are the systemic symptoms of polyarticular JIA?
Minimal systemic symtoms (unlike systemic JIA), can be:
Mild fever
Anaemia
Reduced growth
What is the equivalent of rheumatoid arthritis in adults?
Polyarticular JIA
Are patients with polyarticular JIA seropositive?
Most children are negative
Older children can be positive - disease pattern = more similar to RA in adults
How many joints are affected in oligoarthritis? What is it also known as?
4 joints or less
Pauciarticular JIA
Which joints are typically affected by oligoarticular JIA?
Larger joints, knee or ankle
Who is typically affected by oligoarticular JIA?
Girls under the age of 6
What is classically associated with oligoarticular JIA?
Anterior uveitis (referred to opthalmologist for management and follow up)
What are the blood test findings on oligoarticular JIA?
ANA often positive
RF is negative
Inflammatory markers normal or mildly elevated
Who is enthesitis-related arthritis most common in?
Male children over 6
What is enthesitis-related arthritis the paediatric version of?
Seronegative spondyloarthropathy
- Ankylosing spondylitis
- Psoriatic arthritis
- Reactive arthritis
- IBD related arthritis
What is enthesitis?
Inflammation of the insertion point of the tendon into the bone
What can cause enthesitis?
Repetitive strain during sporting activities
Autoimmune inflammatory process
What imaging can be used for enthesitis?
MRI scan of affected joint (can’t distinguish cause)
Which gene is associated with enthesitis-related arthritis?
HLA B27 gene
What is look for on examination of enthesitis-related arthritis?
Psoriasis (psoriatic plaques and nail pitting)
Inflammatory bowel disease (intermittent diarrhoea and rectal bleeding)
Why should patients with enthesitis-related arthritis see an opthalmologist?
As they are prone to anterior uveitis
What are the key areas to palpate in patients with enthesitis?
Interphalangeal joints in hand
Wrist
Greater trochanter on lateral aspect of hip
ASIS (quadriceps insertion)
Patella (quadriceps and patella tendon indertion)
Base of achilles at the calcaneus
Metatarsal heads on the base of the foot
What is juvenile psoriatic arthritis?
Seronegative inflammatory arthritis associated with psoriasis
Which joints are affected in juvenile psoriatic arthritis?
Varies: can be symmetrical polyarthritis affecting small joints similar to RA or can be symmetrical affecting large joints in the lower limb
What are the signs of juvenile psoriatic arthritis?
Plaques of psoriasis on the skin
Nail pitting
Onycholysis - separation of the nail from the nail bed
Dactylitis - inflammation of the full finger
Enthesitis
What is the medical management of juvenile idiopathic arthritis?
Coordinated by MDT:
- NSAIDs e.g. ibuprofen
- Steroids (oral / IM / intra-articular) in oligoarthritis
- DMARDs e.g. methtrexate, sulfasalazine, leflunomide
- Biologic therapy e.g. TNF inhibitors (etanercept, infliximab and adalimumab)
What is Ehlers-Danlos syndrome?
Umbrella term for group of genetic conditions causing defective collagen resulting in hypermobility of the patient’s joints and abnormal connective tissue e.g. skin, bones, blood vessels and organs
What are the four main types of Ehlers-Danlos?
Hypermobile Ehlers-Danlos syndrome
Classical Ehlers-Danlos syndrome
Vascular Ehlers-Danlos syndrome
Kyphoscoliotic Ehlers-Danlos syndrome
What are the features of hypermobild Ehlers-Danlos syndrome?
Least severe type of Ehlers-Danlos
Joint hypermobility
Soft and stetchy skin
Gene has not yet been found
What are the features of classical Ehlers-Danlos?
Stretchy skin
Smooth and velvety
Severe joint hypermobility, joint pain and abnormal wound healing
Lumps over pressure points e.g. elbows
Prone to hernias, prolapses, mitral regurgitation and aortic root dilatation
What is the mode of inheritance for classical Ehlers-Danlos?
Autosomal dominant
What are the features of vascular Ehlers-Danlos?
Thin, translucent skin
Most dangerous form of EDS
Blood vessels are fragile
Skin, internal organs and arteries are prone to rupturing
What is the management of vascular Ehlers-Danlos?
Monitored for vascular abnormalities and told to seek urgent medical attention for sudden unexplained pain / bleeding
What is the mode of inheritance of vascular Ehlers-Danlos?
Autosomal dominant
What are the features of Kyphoscoliotic Ehlers-Danlos?
Hypotonia as a neonate / infant
Kyphoscoliosis as they grow
Joint hypermobility
Patients are tall and slim
Risk of rupture of medium sized arteries
What is the mode of inheritance of kyphoscoliotic Ehlers-Danlos?
Autosomal dominant
What are the two main symptoms in hypermobile EDS?
Joint pain
Hypermobility
What are the other presenting features of hypermobile EDS?
Joint dislocation e.g. shoulders or hips
Soft stretchy skin
Bruising
Poor wound healing
Bleeding
Headaches
GORD
Abdo pain
IBS
Menorrhagia and dysmenorrhoea
PROM in pregnancy
Urinary incontinence
Pelvic organ prolapse
Temporomandibular joint dysfunction
Myopia
What score is used for hypermobility? How is it calculated?
Beighton Score
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
What is it important to exclude in EDS?
Marfan syndrome (examine for high arch palate, arachnodactyly and arm span)
What is the management of EDS?
No cure - only maintain healthy joints, monitor for complications
- Physio - to strengthen joints
- OT to maximise function
- Maintain good posture
- Psychology to manage chronic condition and pain
What can EDS often lead to?
Generalised osteoarthritis
What can be the result of the autonomic dysfunction in hypermobile EDS?
Postural orthostatic tachycardia syndrome:
- Inappropriate tachycardia on sitting or standing up
- Presyncope, syncope, headaches, nausea and tremor
What is Henoch-Schonlein Purpura (HSP)?
IgA vasculitis presenting with purpuric rash affecting the lower limbs and buttocks in children
Inflammation also occurs in affected organs due to IgA deposits in the blood vessels
Where does Henoch-Schonlein Purpura affect?
Skin
Kidneys
GI tract
What is HSP triggered by?
Upper airway infection
Gastroenteritis
What are the four classic features of HSP?
Purpura
Joint pain
Abdo pain
Renal involvement
What is the purpura caused by?
Inflammation and leaking of blood from small blood vessels causing purpura - red-purple lumps under skin containing blood
How can purpura develop in severe cases?
Skin ulceration and necrosis develops
What is the difference between arthritis and arthralgia?
Arthritis is pain with swelling - arthralgia is just pain
What can severe cases of GI involvement with HSP lead to?
Gastrointestinal haemorrhage
Intussusception
Bowel infarction
What does HSP cause in the kidneys? What are the features?
IgA nephritis in the kidneys
Microscopic/macroscopic haematuria
Proteinuria (if 2+ on dip = nephrotic syndrome - oedema)
What are differentials for a non-blanching rash?
Meningococcal septicaemia
Leukaemia
Idiopathic thrombocytopenic purpura
Haemolytic uraemic syndrome
What investigations are there for HSP?
FBC and blood film for thrombocytopenia, sepsis and leukaemia
Renal profile for kidney damahe
Serum albumin for nephrotic syndrome
CRP for sepsis
Urine dip for proteinuria
Urine protein:creatinine ratio to quantify proteinuria
Blood pressure for hypertension
What set of criteria is used to diagnose HSP?
EULAR/PRINTO/PRES criteria
What is the EULAR/PRINTO/PRES criteria for diagnosing HSP?
Have palpable purpura (not petichiae) + at least one:
- Diffuse abdo pain
- Arthritis or arthralgia
- IgA deposits on histology (biopsy)
- Proteinuria or haematuria
What is the management of HSP?
Analgesia
Rest
Hydration
Steroid use is debatable - may shorten duration of illness but won’t affect long term outcomes (may be used in severe GI pain / renal involvement)
How are patients with HSP monitored?
Urine dip for renal involvement
Blood pressure monitoring for HTN
What is the prognosis of HSP?
Abdo pain settles in a few days
Full recovery in 4 to 6 weeks (if no kidney involvement)
1/3 have recurrence in 6 months
Small proportion develop end stage renal failure
What is Kawasaki disease? What is it also known as?
Systemic, medium-sized vessel vasculitis affecting young children (under 5)
Also known as mucocutaneous lymph node syndrome
Who does Kawasaki disease typically affect?
Asian children, japanese and korean (boys)
No clear cause or trigger
What are the key features of Kawasaki disease?
Persistent high fever (above 39) for more than 5 days
Widespread erythmatous maculopapular rash
Desquamation (skin peeling) on palms and soles
What are the other features of Kawasaki disease?
Strawberry tongue (red tongue with large papillae)
Cracked lips
Cervical lymphadenopathy
Bilateral conjunctivitis
What are the investigations for Kawasaki disease?
FBC for anaemia, leukocytosis, thrombocytosis
LFTs for hypoalbuminaemia, and elevated liver enzymes
Inflammatory markers (particularly raised ESR)
Urinalysis raised WBCs without infection
Echo for coronary artery pathology
What are the three phases for Kawasaki?
Acute phase: 1-2 weeks - most unwell with fever, rash and lymphadenopathy
Subacute phase: 2-4 weeks - acute symptoms settle - desquamation and arthralgia (risk of coronary artery aneurysm)
Convalesent stage: 2-4 weeks - remaining symptoms settle - blood tests normalise and coronary aneurysms may regress
What is the management of Kawasaki disease?
High dose aspirin - reduce risk of thrombosis
IV immunoglobulins - reduce risk of coronary artery aneurysm
Close following with echo for coronary artery aneurysm
Why is aspirin usually avoided in children?
Risk of Reye’s syndrome
What is acute rheumatic fever?
Autoimmune condition triggered by streptococcus bacteria
What is acute rheumatic fever caused by?
Antibodies created against streptococcus bacteria which also targets tissues in the body
What is rheumatic fever usually caused by?
Group A beta-haemolytic streptococcal typically strep pyogenes causing tonsillitis
What type of hypersensitivity reaction is rheumatic fever?
Type 2 hypersensitivity reaction where immune system begins attacking cells throughout body
How does rheumatic fever present?
2-4 weeks following a streptococcal infection e.g. tonsillitis
- Fever
- Joint pain
- Rash
- RoB
- Chorea
- Nodules
Why does rheumatic fever cause migratory arthritis?
Affecting large joints which become hot, swollen and painful - become inlammed and improve at different times
What does the carditis in rheumatic fever cause?
Pericarditis
Myocarditis
Endocarditis
How does the carditis in rheumatic fever manifest?
Tachycardia or bradycardia
Murmurs from valvular heart disease, typically mitral valve disease
Pericardial rub on auscultation
Heart failure
What are the two key skin findings in rheumatic fever?
Subcutaneous nodules (firm, painless, extensor surfaces)
Erythema marginatum rash (pink rings, torso, proximal limbs)
What is the nervous system involvement in rheumatic fever?
Chorea - irregular, uncontrolled and rapid movements of the limbs
What is chorea also known as?
Sydenham chorea
St Vitus’ Dance
What investigations are there for rheumatic fever?
Throat swab for bacterial culture
ASO antibody titres
Echo, ECG and CXR
How do the anti-streptococcal antibodies (ASO) vary with rheumatic fever?
When are ASO levels repeated?
Confirm negative test
Assess if levels rising / falling
What diagnostic criteria is used for rheumatic fever?
Jones Criteria
What does the Jones criteria for diagnosis involve?
Evidence of recent streptococcal infection
Plus: two major criteria or one major plus two minor
Major:
J - Joint arthritis
O - Organ inflammation
N - Nodules
E - Erythema marginatum rash
S - Sydenham chorea
Minor:
Fever
ECG changes (prolonged PR interval) without carditis
Arthralgia without arthritis
Raised inflammatory markers (CRP and ESR)
What is the management of rheumatic fever?
Treat strep infections to prevent
NSAIDs for joint pain
Aspirin and steroids for carditis
Prophylactic abx (oral / IM penicillin to prevent further strep infections)
Monitor for complications
What are the complications of rheumatic fever?
Recurrence
Valvular heart disease e.g. mitral stenosis
Chronic heart failure
