Paeds IX Flashcards
What are the 5 types of juvenile idiopathic arthritis? [5]
Systemic JIA
- aka Stills disease
Polyarticular JIA
- 5+ joints
- rheumatoid factor (RF)-positive or RF-negative subtypes
Oligoarticular JIA
- 4 joints or less
Enthesitis related arthritis
- seronegative spondyloarthropathy
Juvenile psoriatic arthritis
Describe the presentation of systemic JIA (Still’s disease) [5]
Subtle salmon-pink rash
elevated serum ferritin
arthalgia
Swinging fevers
- typically rises in the late afternoon/early evening in a daily pattern and accompanies a worsening of joint symptoms and rash
lymphadenopathy
Mx for Stills?
What is a key complication of systemic JIA? [1]
What is the typical presentation of this complication? [4]
What is a key investigational finding? [1]
A key complication is macrophage activation syndrome (MAS)
- Where there is severe activation of the immune system with a massive inflammatory response.
It presents with an acutely unwell child with disseminated intravascular coagulation (DIC), anaemia, thrombocytopenia, bleeding and a non-blanching rash.
- It is life threatening. A key investigation finding is a low ESR.
Describe the general presentation of polyarticular JIA [2=
How do RF +ve and -ve polyarticular JIA present differently? [2]
Polyarticular JIA involves idiopathic inflammatory arthritis in 5 joints or more.
- mild fever, anaemia and reduced growth.
RF-positive polyarticular JIA
- is characterized by symmetric joint involvement, particularly in the small joints of the hands and feet.
RF-negative polyarticular JIA
- typically involves larger joints such as the knee, hip, and shoulder.
What is another indication that a patient has oligoarthritis JIA? [1]
Patients tend not to have any systemic symptoms and inflammatory makers will be normal or mildly elevated.
Antinuclear antibodies are often positive, however rheumatoid factor is usually negative.
[] is the most common gastrointestinal complication of HSP
Intussusception is the most common gastrointestinal complication.
What Ix would you conduct for HSP?
Blood tests
- Coagulation studies: prothrombin time, partial thromboplastin time, and fibrinogen - Should be normal in HSP. Helps in ruling out other diagnoses such as thrombocytopenia
- Serum creatinine and electrolyte levels: ?renal failure
- Raised ESR
Urine test:
- May show hematuria, proteinuria or casts
Biopsy:
- confirmation of the diagnosis in patients with an unusual presentation (e.g., headaches, seizures, or pulmonary haemorrhage) is made via biopsy of an affected organ such as skin or kidney.
- renal biopsy: the immunofluorescence shows IgA deposition in the mesangium hence resembling IgA nephropathy.
Describe the management of HSP [+]
Treatment of pain:
- Mild to moderate JOINT pain can typically be managed with either ibuprofen or paracetamol.
- Mild to moderate ABDOMINAL pain is managed with paracetamol and supportive care.
- Oral glucocorticoid therapy is used to manage severe abdominal pain in HSP patients. If abdominal pain is accompanied by nausea and vomiting, intravenous corticosteroids may be used.
Renal involvement:
- Specific treatment with intravenous corticosteroids (pulse dosing) is recommended only in patients with nephrotic-range proteinuria and/or those with declining renal function.
- A combination of corticosteroids, immunosuppressants, and plasmapheresis is used in the patient with rapidly progressive nephritis.
- Renal transplant is reserved in patients who develop end-stage renal disease.’
What would indicate hospitalisation for HSP? [5]
- Inability to maintain adequate hydration with oral intake
- Severe abdominal pain
- Notable gastrointestinal bleeding
- Altered mental status
- Renal involvement (elevated creatinine), hypertension, and/or nephrotic syndrome
Describe the different types of Ehlers-Danlos syndromes [4]
Hypermobile Ehlers-Danlos syndrome
- is the most common and least severe type of Ehlers-Danlos syndrome (although it still causes significant disability and psychosocial issues).
- The key features are joint hypermobility and soft and stretchy skin.
- A single gene for hypermobile EDS has not been identified. It appears to be inherited in an autosomal dominant pattern.
Classical Ehlers-Danlos syndrome
- features remarkably stretchy skin that feels smooth and velvety.
- There is severe joint hypermobility, joint pain and abnormal wound healing.
- Lumps often develop over pressure points, such as the elbows. Patients are prone to hernias, prolapses, mitral regurgitation and aortic root dilatation. Inheritance is autosomal dominant.
Vascular Ehlers-Danlos syndrome
- is the most severe and dangerous form of EDS, where the blood vessels are particularly fragile and prone to rupture.
- Patients have characteristic thin, translucent skin. Other features include gastrointestinal perforation and spontaneous pneumothorax.
- Patients are monitored for vascular abnormalities and told to seek urgent medical attention for sudden unexplained pain or bleeding. Inheritance is autosomal dominant.
Kyphoscoliotic Ehlers-Danlos syndrome
- is characterised initially by poor muscle tone (hypotonia) as a neonate and infant, followed by kyphoscoliosis as they grow.
- There is significant joint hypermobility. Joint dislocation is common.
- Inheritance is autosomal recessive.
TOM TIP: It is worth being familiar with relatively common hypermobile Ehlers-Danlos syndrome and remembering some key features of the other types to spot them in your exams.
Which features are typical for classic EDS? [2]
Which features are typical for vascular EDS? [1]
Classical EDS:
- Extremely stretchy skin
- Severe joint hypermobilitiy
Vascular EDS:
- Thin translucent skin
- Blood vessel rupture
TOM TIP: It is worth being familiar with relatively common hypermobile Ehlers-Danlos syndrome and remembering some key features of the other types to spot them in your exams.
Remember the [2] associated with classic EDS, and the [2] with vascular EDS.
TOM TIP: It is worth being familiar with relatively common hypermobile Ehlers-Danlos syndrome and remembering some key features of the other types to spot them in your exams
. Remember the extremely stretchy skin and severe joint hypermobility associated with classic EDS, and the thin translucent skin and blood vessel rupture associated with vascular EDS.
When / why might a baby be suffering from IDA? [1]
If they are exclusively milk feeding (bottle / breastfeeding) at ~ 1 year age
A baby has rhesus incompatibility. How would they present [4] due to which condition? [1]
How might you treat? [4]
Hydrops fetalis
- Skin oedema, pericardial effusions, ascites, secondary jaundice
Treatment:
- Phototherapy, IV IG, Blood transfusion, exchange transfusion
What are the most common causes of intracellular red defects [6]
Describe their presentations [+]
Sickle cell disease
Thalassemias
Hereditary spherocytosis
- Hereditary spherocytosis is a condition where the red blood cells are sphere shaped, making them fragile and easily destroyed when passing through the spleen. It is the most common inherited haemolytic anaemia in northern Europeans. It is an autosomal dominant condition.
- splenomegaly
- risk of aplastic, haemolytic or megaloblastic crisis (causing acute exacerbation of anaemia)
Hereditary eliptocytosis
G6PD deficiency
- bite cells and heinz bodies
- avoid triggers
Pyruvate kinase defiency
Which infections would most likely cause haemolysis [3]
Parvovirus
Malaria
HUS
Describe the presentation of parvovirus b19 infection [+]
- causes transient aplastic anaemia, temporary suspension of erythropoeisis - risk in SCA or hereditary spherocytosis
- mild feverish illness which can be hardly noticeable
- cheeks appear bright red, hence the name ‘slapped cheek syndrome’
- child begins to feel better as the rash appears and the rash usually peaks after a week and then fades
- the rash is unusual in that for some months afterwards, a warm bath, sunlight, heat or fever will trigger a recurrence of the bright red cheeks and the rash itself
- causes aplastic crisis in SCA ptx
Why does malaria cause anaemia? [3]
Increased splenic activity
Bone marrow suppression
Increased haemolysis of rbc
How would you determine if a microcytic anaemia is due to IDA or thalassemia minor on initial investigation? [1]
How would you then determine if a patient has Beta thalassaemia minor / alpha thalassaemia minir? [2]
Look at ferritin level
- if low = IDA
- if normal = thal. minor
Then do Hb electrophoresis
- Elevated HbA2 = beta thal. minor
- Normal HbA2 = alpha thal. minor
Normocytic MCV:
- How would you determine if a child is suffering from haemolytic cause / blood loss? [1]
- How would you determine if is from marrow hypoplasia / leukaemia
Reticulocytes increased
What are red flags for anaemia in children? [5]
Red flags in anaemia
* Hb < 60g/L
* Tachycardia, cardiac murmur or signs of cardiac failure
* Features of haemolysis (dark urine, jaundice, scleral icterus)
* Associated reticulocytopenia (low reticulocyctes)
* Presence of nucleated red blood cells on blood film
* Associated thrombocytopenia or neutropenia
* Severe vitamin B12 or folate deficiency - associated w failure to thrive / neurodevelopment problems
Where possible defer transfusion until a definitive diagnosis is made
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