Paediatric rheumatology Flashcards
What is juvenile idiopathic arthritis (JIA)?
Condition affecting children and adolescents where autoimmune inflammation occurs in the joints
When is JIA diagnosed?
Where there is arthritis without any other cause, lasting more than 6 weeks in a patient under the age of 16.
What are the key features of JIA?
joint pain, swelling and stiffness
What are the types of JIA?
Systemic
Polyarticular
Oligoarticular
Enthesistis related arthritis
Juvenile psoriatic arthritis
What is systemic JIA also known as?
Still’s disease
What are the typical features of systemic JIA?
Subtle salmon-pink rash
High swinging fevers
Enlarged lymph nodes
Weight loss
Joint inflammation and pain
Splenomegaly
Muscle pain
Pleuritis and pericarditis
What tests are typically negative on JIA?
Antonuclear antibodies and rheumatoid factors
What tests will be raised in systemic JIA?
Raised CRP, ESR, platelets and serum ferritin
What is a key complication of systemic JIA?
macrophage activation syndrome (MAS) where there is severe activation of the immune system with a massive inflammatory response.
What does macrophage activation syndrome present with?
Acutely unwell child with disseminated intravascular coagulation (DIC), anaemia, thrombocytopenia, bleeding and a non-blanching rash. It is life threatening
What is a key investigation finding in macrophage activation syndrome?
Low ESR
If a child has a fever for more than 5 days what are the key differentials?
Kawasaki disease, Still’s disease, rheumatic fever and leukaemia
What is polyarticular JIA?
Idiopathic inflammatory arthritis in 5 joints or more
What are the features of polyarticular JIA?
Symmetrical and can affect small or large joints. Minimal systemic features but there can be mild fever, anaemia and reduced growth
What is polyarticular JIA the equivalent of?
Rehumatoid arthritis in adults
What is the rheumatoid factor like in polyarticular JIA?
seronegative, may be seropositive in older adolescents where it is more similar to rheumatoid arthritis
What is oligoarthritis also known as?
pauciarticular JIA
What is oligoarticular JIA?
Involves 4 joints or less, usually only affects a single joint and tends to affect larger joints, either the knee or ankle
In whom does oligoarticular JIA occur in?
more frequent in girls under the age of 6 years
What is a classic feature of oligoarticular JIA?
anterior uveitis
What is the clinical picture of oligoarticular JIA?
Tend not to have systemic symptoms and inflammatory markers will be normal or mildly elevated. Antinuclear antibodies are often positive, however rheumatoid factor is usually negative
Who is enthesitis-related arthritis more common in?
male children over 6 years
What is enthesities-related arthritis the paediatric version of?
Seronegative spondyloarthropathy
What is an enthesis?
The point at which the tendon of a muscle inserts into a bone
What can enthesitis be caused by?
traumatic stress or autoimmune inflammatory process
What helps to diagnose enthesitis but what doesn’t it do?
MRI scan but cannot distinguhs between the causes
What gene is related to enthesitis?
HLA (Human Leukocyte gene) B27 gene
What should you check for when asking about enthesitis related arthritis?
Psoriasis and inflammatory bowel disease and anterior uveitis
Which areas should be palpated when checking for enthesitis in joints?
Interphrangeal joints of the hands
Wrist
Greater trochanter on lateral hip
Quadriceps insertion at the anterior superior iliac spine
Quadriceps and patella tendon insertion around the patella
Base of the achilles, at the calcaneous
Metatarsal heads on the base of the foot
What is psoriatic arthritis?
Seronegative inflammatory arthritis associoated with psoriasis
What is the pattern of psoriatic arthritis?
Symmetrical polyarthritis affectign the small joints, similar to rheumatoid or an asymmetrical athritis affecting the large joint in the lower limb
What signs are seen in juvenile psoriatic arthritis?
Plaques of psoriasis on the skin
Nail pitting
Onycholysis (separation of the nail from the nail bed)
Dactylitis
Enthesitis
What are the medical treatment options for juvenile idopathic arthritis?
NSAIDs
Steroids (intra-articular in oligoarthritis)
Disease modifying anti-rheumatic drugs (DMARDs) e.g. methotrexate, sulfasalazine and leflunomide
Biologic therapy e.g. tumour necrosis factor inhibitors; entanercept, infliximab and adalimumab
What is Ehlers-Danlos syndrome?
group of genetic conditions involving defects in collagen, causing hypermobility in the joints and abnormalities in the connective tissue of the skin, bones, blood vessels and organs
What is a critical differential diagnosis for hypermobility than ehlers-danlos syndrome?
Marfan syndrome
What is the most common and least severe type of Ehlers-Danlos syndrome?
Hypermobile Ehlers-Danlos syndrome
What are the key features of hypermobile Ehlers-Danlos sydnrome?
joint hypermobility and soft, stretchy skin
What pattern of inheritance is hypermobile Ehlers-Danlos syndrome?
Autosomal dominant
What are the classical Ehlers-Danlos syndrome features?
stretchy skin that feels smooth and velvety
Severe joint hypermobility, joint pain and abnormal wound healing
What are patients prone to with Ehlers-Danlos syndrome?
hernias, prolapses, mitral regurgitation and aortic root dilatation
What is the most dangerous and severe form of Ehlers-Danlos?
Vascular Ehlers-Danlos syndrome
What are the features of vascular Ehlers-Danlos syndrome?
Thin, translucent skin
Gastrointestinal perforation
Spontaneous pneumothorax
What is kyphoscoliotic Ehlers-Danlos syndrome?
Initially poor muscle tone (hypotonia) as a neonate and infant followed by kyphoscoliosis as they grow.
significant joint hypermobility
What is the inheritance of kyphoscoliotic Ehlers-Danlos syndrome?
Autosomal recessive
What is the inheritance of vascular Ehlers-Danlos syndrome?
Autosomal dominant
What symptoms can occur with Ehlers-Danlos syndrome/
Joint pain
Hypermobility
Joint dislocations
Soft and stretchy skin
Stretch marks
Easy bruising
Poor wound healing
Bleeding
Chronic pain
Chronic fatigue
Headaches
Autonomic dysfunction
Gastro-oesophageal reflux
Abdominal pain
IBS
Menorrhagia and dysmenorrhea
Premature rupture of membranes in pregnancy
Urinary incontinence
Pelvic organ prolapse
Temporomandibular joint dysfunction
What can occur in hypermobile Ehlers-Danlos syndrome due to autonomic dysfunction?
Postural orthostatic tachycardia syndrome
What score is used to assess for hypermobility and support a diagnosis of Ehlers-Danlos?
Beighton score
What are the tests for the Beighton score (1 point for each side of the body for 4 of the points)?
Place their palms flat on the floor with their straight legs
Hyperextend their elbows
Hyperextend their knees
Bend their thumb to touch their forearm
Hyperextend their little finger past 90 degrees
What is the management for Hypermobile Ehlers-Danlos syndrome?
Physio
Occupational therapy
Moderating activity to minimise flares
What can hypermobility in joints leasd to?
Premature osteoarthritis
What is henoch-Schonlein Purpura?
IgA Vasculitis that presents with a purpuric rash affecting lower limbs and buttocks in children
Why does inflammation occur in Henoch-Schonlein purpura?
IgA deposits in blood vessels
What is HSP often triggered by?
Upper airway infection or gastroenteritis
Where does HSP normally affect?
Skin, Kidneys and gastro-intestinal tract
What are the four classic features of HSP?
Purpura
Joint pain
Abdominal pain
Renal involvement
What are pupura?
Red-purple lumps under the skin containing blood
What can severe HSP lead to in the gastrointestinal tract?
Gastrointestinal haemorrhage, intussusception and bowel infarction
If IgA affects the kidneys what does it cause?
IgA nephritis leading to microscopic or macroscopic haematuria and proteinuria
What is indicative of nephrotic syndrome in HSP?
2+ protein on urine dipstick
What tests might you do in HSP to exclude other causes and help support HSP diagnosis?
FBC an dblood film for thrombocytopenia, sepsis and leukaemia
Renal profile for kidneys
Serum albumin for nephrotic syndrome
CRP for sepsis
Blood cultures for sepsis
Urine dipstick for proteinuria
Urine protein:creatinine ratio to quantify proteinuria
BP for HTN
What is the most recent criteria for HSP diagnosis?
EULAR/PRINTO/PRES criteria
What does the EULAR/PRINTO/PRES criteria diagnose and what does it include?
Palpable purpura (not petechiae) + at leats one of:
Diffuse abdominal pain
Arthritis or arthralgia
IgA deposits on biopsy
Protienuria or haematuria
What is the management for HSP?
Supportive with analgesia, rest and hydration
What must be monitored in HSP?
Urine dipstick for renal involvement
BP for HTN
What is the prognosis of HSP?
Full recovery in 4 to 6 weeks- a third of patients will have recurrence in 6 months
What is kawasaki also known as?
Mucocutaneous lymph node syndrome
What is kawasaki disease?
Medium-sized vessel vasculitis
Who is kawasaki more common in?
children under 5 years, asian children and boys
What is a key complication of kawasaki disease?
Coronary artery disease
What are key features of kawasaki disease?
Persistent high fever for more than 5 days
Widespread erythematous maculopapular rash and desquamation
What are features of kawasaki apart from fever and rash?
Strawberry tongue
Cracked lips
Cervical lymphadenopathy
Bilateral conjunctivitis
What are the investigations for kawasaki disease?
FBC can show anaemia, leukocytosis and thrombocytosis
LFTs can show hypoalbuminaemia and elevated liver enzymes
Inflammatory markers (particularly ESR) are raised
Urinalysis can show raised WBC without infection
ECHO can show coronary artery pathology
How many phases of kawasaki disease are there and what are they?
three; acute subacute, convalescent
What is the acute phase of kawasaki disease?
child is most unwell with fever, rash and lymphadenopathy- lasts 1-2 weeks
What is the subacute phase of kawasaki disease?
Acute symptoms settle, desquamation and arthralgia occur and there is a risk of coronary artery aneuysms forming- 2-4 weeks
What is the convalescent stage of kawasaki disease?
Remaining symptoms settle, blood tests slowly return to normal and coronary aneurysms may regress- this last 2-4 weeks
What are the two first line medical treatments given to patients with kawasaki disease?
High dose aspirin to reduce risk of thrombosis
IV immunoglobulins to reduce coronary artery aneurysms
Why is aspirin usually avoided in children?
Reye’s syndrome
What is acute rheumatic fever and what is it triggered by?
Autoimmune condition triggered by streptococcus bacteria. It is a multi-system disorder that affects joints, heart, skin and nervous system
What is rheumatic fever caused by?
Antibodies created against group A beta-haemolytic streptococcal bacteria, usually streptococcus pyogenes causing tonsilitis that also target tissues in the body
What type of hypersensitivity reaction is rheumatic fever?
Type 2, where the immune system begins attacking cells throughout the body. This is usually dleayed 2-4 weeks after the initial infection
What is the presentation of rheumatic fever?
Occurs 2-4 weeks after streptococcal infection e.g. tonsilitis
Fever
Joint pain
Rash
SOB
Chorea
Nodules
What does rheumatic fever due to joints?
Causes migratory arthritis affecting the large joints, with hot, swollen painful joints.
What does rheumatic fever do to the joints?
Carditis with pericasrditis, myocarditis and endocarditis leads to:
Tachycardia or bradycardia
murmurs from valvular heart disease
Pericardial rub on ascultation
Heart failure
What does rheumatic fever do to the skin?
Subcutaneous nodules
Erythema marginatum rash or pink rings of varying sizes affecting torso and proximal limbs
Firm, painless nodules over extensor surfaces e.g. elbows
What does rheumatic fever do to the skin?
Chorea is the key symptom of the nervous system
What investigations are used for rheumatic fever?
throat swab for bacterial culture
ASO antibody titres
ECHO, ECG and chest xray
What criteria is used to diagnose rheumatic fever?
Jones criteria
What happens to the levels of ASO antibodies after an acute infection?
Rise over 2-4 weeks
Peak around 3-6 weeks
Gradually falls over 3-12 months
ASO levels repeated after 2 weeks to confirm a negative test and assess whether levels are rising or falling
What is the diagnosis with jones criteria for rheumatic fever?
Two major criteria or one major and 2 minor
What is the major criteria for rheumatic fever?
J- joint arthritis
O- organ inflammation such as carditis
N- nodules
E- erythema marginatum rash
S-sydenham chorea
What is the minor criteria for rheumatic fever using Jones criteria?
Fever
ECG changes (prolonged PR interval) without carditis
Arthralgia without arthritis
Raised inflammatory markers (CRP and ESR)
What is the prevention of rheumatic fever?
Tretament of tponsilitis caused by streptococcus should be treated with phenoxymethylpenicillin (penicillin V) for 10 days
What is the manageemnt for possible rheumatic fever?
NSAIDs
Aspririn and steroids
Prophylactic antibiotics
What are the complications of rheumatic fever?
Recurrence of rheumatic fever
Valvular heart disease, most notably mitral stenosis
Chronic heart failure
