Rheumatology Flashcards
What is juvenile idiopathic arthritis?
Autoimmune inflammation in the joints of children (<16) that causes arthritis lasting >6 weeks, without any other cause
What are the key features of juvenile idiopathic arthritis?
- joint pain
- swelling
- stiffness
What are the key five subtypes of juvenile idiopathic arthritis?
- systemic JIA
- polyarticular JIA
- oligoarticular JIA
- enthesitis related arthritis
- juvenile psoriatic arthritis
What is another name for systemic juvenile idiopathic arthritis?
Still’s disease
What are the typical symptoms of Still’s disease?
- subtle salmon-pink rash
- high swinging fevers
- enlarged lymph nodes
- weight loss
- joint inflammation and pain
- splenomegaly
- muscle pain
- pleuritis and pericarditis
What blood tests are abnormal in Stills disease?
- raised inflammatory markets - CRP and ESR
- raised platelets and ferritin
(antinuclear antibodies and Rheumatoid factor are typically negative)
What is a key complication of Stills disease?
Macrophage activation syndrome. Massive immune response. Causes DIC, anaemia, thrombocytopenia, bleeding and a non blanching rash. It is life threatening. There will be a low ESR.
What non infective causes can cause a fever >5 days?
- Kawasaki disease
- Still’s disease
- Rheumatic fever
- leukaemia
What is polyarticular juvenile idiopathic arthritis?
Idiopathic inflammatory arthrtisi in 5 or more joints. It tends to be symmetrical and can affect both small and large joints.
What is oligoarticular juvenile idiopathic arthritis?
Inflammatory arthritis in 4 or less joints - most commonly only one joint (and larger joints - e.g. knee or ankle). Most frequent in girls <6. It is also associated with anterior uveitis.
What blood test is often positive in oligoarticular juvenile idiopathic arthritis?
Antinuclear antibodies
What is enthesis-related arthritis?
Inflammation of where the tendon inserts into a bone - leading to arthritis.
What gene is associated with enthesis-related arthritis?
HLAB27 gene
How is juvenile idiopathic arthritis managed?
- paediatric rheumatology and a MDT
- NSAIDs
- steroids
- DMARDS - e.g. methotrxate, sulfasalazine
- Biologic therapy - e.g. infliximab
What is Ehlers-Danlos syndrome?
A group of genetic conditions that cause defects in collagen causing hypermobility of joints and abnormalities in connective tissue (skin, bones, blood vessels and organs)
Name some of the different types of Ehlers Danlos syndromes?
- hypermobile (most common and least severe)
- classical
- vascular (most dangerous)
- kyphoscoliotic
What are the features of hypermobile Ehler-Danlos syndrome?
- most common
- joint hypermobility
- soft and stretchy skin
- no identified gene and no single mode of inheritance
What are the features of classical Ehlers-Danlos syndrome?
- very stretchy skin that feels smooth and velvety to touch
- severe joint hypermobility
- joint pain
- abnormal wound healing
- prone to hernias, prolapsing, mitral regurgitation and aortic root dilation.
- Inheritance is autosomal dominant
What are the features of vascular Ehlers-Danlos syndrome?
- most dangerous
- blood vessels are fragile
- thin, translucent skin
- skin, organs and arteries are prone to rupturing
- monitoring is needed for vascular monitoring
- autosomal dominant inheritance
What are the features of kyphoscoliotic Ehlers-Danlos syndrome?
- initial poor tone as a neonate and infant (hypotonia)
- kyphoscholiosis
- joint hypermobility
- tall and slim
- risk of rupture of medium sized arteries
- autosomal dominant
How can hypermobile Ehlers-Danlos present?
- hypermobility
- joint pain after exercise or inactivity
- joint dislocations - e.g. shoulders or hips
- soft stretchy skin
- easy bruising
- poor healing of wounds
- bleeding
- headaches
- autonomic dysfunction - dizziness and syncope
- GORD
- abdo pain
- IBS
- Menorrhagia and dysmenorrhea
- premature rupture of membranes in pregnancy
- urinary incontinence
- pelvic organ prolapse
- TMJ dysfunction
- Myopia and other
What scoring system is used to assess hypermobility?
Beighton score
Explain the Beighton scoring for hypermobility
One point for each side of the body (max 9)
- palms flat on floor with straight legs
- elbows hyperextend
- knees hyperextend
- thumb can bend to touch forearm
- little finger hyperextends past 90 degrees
How is Ehlers-danlos managed?
- physiotherapy - to strengthen and stabilise joints
- occupational therapy - to maximise function
- moderating intensity of activity to minimise flares
- follow up with specialities for any complications - e.g. vascular / cardio
- psychology can also be useful
What is POTS?
Postural orthostatic tachycardia syndrome. Autonomic dysfunction causes inappropriate tachycardia on sitting or standing up. This leads to presyncope, syncope, headaches, disorientation, nausea and tremor.
What is Kawasaki disease?
A systemic, medium sized vessel vasculitis. Also known as mucocutaneous lymph node syndrome.
Who is most commonly affected by Kawasaki disease?
- children under 5
- more common in asian children - particularly japanese or korean
- more common in boys
What is a key complication of Kawasaki disease?
Coronary artery aneurysm
How does Kawasaki disease present?
- persistent high fever (>39) for more than 5 days
- widespread erythematous maculopapular rash and desquamation (skin peeling) on the palms and soles
- strawberry tongue
- cracked lips
- cervical lymphadenopathy
- bilateral conjunctivitis
What investigations are done for Kawasaki disease?
- FBC - can show anaemia, leukocystosis and thrombocytosis
- LFTs - can show hypoalbuminaemia and elevated liver enzymes
- Inflammatory markers - raised CRP and ESR
- urinalysis - raised WBC without infection
- Echocardiogram - to look for coronary artery pathology
How is Kawasaki disease managed?
- high dose aspirin to reduce risk of thrombosis
- IV immunoglobulins - to reduce risk of coronary artery aneurysms
Follow up with echocardiograms.
Why is aspirin normally avoided in children?
Due to the risk of Reye’s syndrome (causing serious liver and brain damage)
What is rheumatic fever?
Autoimmune condition triggered by streptococcus bacteria. Antibodies are created against this bacteria however they also target tissues in the body.
What organism causes rheumatic fever?
Group A beta-haemolytic streptococcal - typically streptococcus pyogenes causing tonsilitis
When does rheumatic fever symptoms present?
2-4 weeks after the initial infection (e.g. tonsilitis)
What type of sensitivity reaction is rheumatic fever?
Type 2 - antibody mediated
How does rheumatic fever present?
Systemic symptoms 2-4 weeks after acute infection.
- fever
- joint pain
- rash
- shortness of breath
- chorea - uncontrolled and rapid movements of the limbs
- migratory arthritis - hot swollen painful large joints
- cardiac involvement - pericarditis, myocarditis etc. - tachy or bradycardia, murmurs, pericardial rub and heart failure
- skin involvement - subcut. nodules, erythema marginatum rash (pink rings varying in sizes on the torso and proximal limbs)
What investigations are done for rheumatic fever?
- throat swabs for bacterial culture
- ASO (anti-streptococcal antibodies) titres
- echocardiogram, ECG and chest XRAY to assess cardio involvement
Diagnoses is then made using the Jones criteria.
Describe the Jones Criteria for diagnosis
Evidence of a recent streptococcal infection +
2 major criteria OR
1 major + 2 minor criteria
MAJOR
- J - joint arthritis
- O - organ inflammation - e.g. carditis
- N - nodules (skin)
- E - erythema marginatum rash
- S - sydenham chorea
MINOR
- F - fever
- E - ECG changes
- A - arthralgia (without arthritis)
- R - raised inflammatory markers - CRP and ESR
How is rheumatic fever managed?
Treatment of streptococcal infections with antibiotics is preventative (e.g. penicillin V)
- NSAIDs - for joint pain
- Aspirin and steroid for carditis
- Prophylactic antibiotics - to prevent recurrence
- monitor and manage any complications
What are some complications of rheumatic fever?
- recurrence
- valvular heart disease - mitral stenosis
- chronic heart failure
What is Henoch-Schonlein Purpura?
IgA vasculitis - where IgA deposits in the blood vessels causing inflammation. Leads to symptoms such as a purpuric rash affecting lower limbs and buttocks in children.
What can trigger Henoch-Schonlein purpura?
- URTI
- gastroenteritis
What are the four classic features of Henoch-Schonlein purpura?
- purpuric rash
- joint pain
- abdominal pain
- renal involvement
Describe the rash seen in Henoch-Schonlein purpura?
Inflammation and leaking of blood from small blood vessels under the skin, forming purpura (red/ purple lumps palpable under the skin).
This typically starts on the legs and spreads to the buttocks. It can also affect the trunk and arms.
How does Henoch-Schonlein purpura affects joints?
Causes arthralgia or arthritis in 75% of patients. Mainly knees and ankles. Become swollen and painful with a reduced range of movement.
How does Henoch-Schonlein purpura affects the GI system?
Causes abdominal pain in about 50% of patients. In severe cases it can lead to GI haemorrhage, intussusception and bowel infarction.
How does Henoch-Schonlein purpura affect the kidneys?
In 50% of patients it causes and IgA nephritis. This leads to microscopic or macroscopic haematuria and proteinuria. It can also lead to nephrotic syndrome and oedema.
How is Henoch-Schonlein purpura investigated?
Exclude other serious pathologies.
- FBC and blood film
- renal profile for kidney involvement
- serum albumin for nephrotic syndrome
- CRP for sepsis
- blood cultures for sepsis
- urine dipstick - for proteinuria
- urine protein- creatinine ratio - to quantify the proteinuria
- blood pressure for hypertension
How is Henoch-Schonlein purpura managed?
Supportive - simple analgesia, rest and proper hydration.
Steroids may be considered.
Close monitoring
- urine dipstick for renal involvement
- blood pressure for hypertension
What is the prognosis for Henoch-Schonlein purpura?
Abdominal pain usually settles within a few days.
If no kidney involvement - full recovery within 4-6wks.
A third of patients have recurrent disease within 6 months.
A very small proportion of patients will develop end stage renal failure
What are important differentials for Henoch-Schonlein purpura?
- meningococcal septicaemia
- leukaemia
- idiopathic thrombocytopenic purpura
- haemolytic uraemic syndrome
