Paeds - ortho + rheum Flashcards
(68 cards)
1
Q
What is osteogenesis imperfecta?
A
A genetic condition that causes a range of mutations to the formation of collagen.
(There are 8 different kinds of OI depending on what the underlying genetic mutation is)
Results in brittle bones that are prone to fractures.
2
Q
How would osteogenesis imperfecta present?
A
- hypermobility
- blue/grey sclera
- triangular face
- short stature
- deafness from early adulthood
- dental problems, eg. with the formation of teeth
- bone deformities eg. bowed legs and scoliosis
- joint and bone pain
3
Q
How would you manage osteogenesis imperfecta?
A
- Bisphosphonates to increase bone density
- Vitamin D supplementation to prevent deficiency
- Physiotherapy and occupational therapy to maximise strength and function
- Surgery to manage fractures
- Social workers for social and financial support
- Specialist nurses
- Paediatric follow up
4
Q
What is DDH?
A
Developmental Dysplasia of the Hip is where there is a structural abnormality with the development of the hip bones during foetal development.
Risk factors are the 5 Fs
- Female
- Firstborn
- Fhx
- Fanny first (breech)
- Fluid (oligohydramnios)
5
Q
How would you pick up a baby with DDH?
A
- it is screened for on the neonatal examination at birth and at 6-8 weeks old
- Findings that suggest DDH in the Newborn and Infant Physical Examination (NIPE)…
- Different leg lengths
- Restricted hip abd on one side
- Significant bilateral restriction in abd
- Difference in the knee level when the hips are flexed
- Clunking of the hips on special tests (clicking is more common and usually not conerning)
- Ortolani test
- Barlow test
- Diagnostic = US of hips if kids have any risk factors or concerning examination findings suggestive of DDH
6
Q
What are the special tests used in the newborn and infant physical examination to check for DDH?
A
Ortolani test
- baby on their back with hips and knees flexed
- palms placed on babys knees with thumbs on inner thigh and 4 fingers on outer thigh
- use gentle pressure to abd hips and apply pressure behind the legs with fingers to see if hips will dislocate anteriorly
Barlow test
- baby on their back with hips adducted and flexed at 90 degrees, and knees bent 90 degrees
- gentle pressure on knees through femur to see if femoral head will dislocate posteriorly
Galleazis test
- to indicate whether leg shortening is femoral or tibial
7
Q
What are some risk factors for DDH?
A
- 1st degree family history
- breech presentation from 36 weeks onwards
- breech presentation at birth from 28 weeks onwards
- multiple pregnancy
8
Q
How would you manage DDH?
A
-
Pavlik harness if the baby presents at less than 6 months old
- keep it on permanently, adjusting for growth
- it holds the femoral head in the correct position to allow the hip socket (acetabulum) to develop a normal shape
- it keeps the babys hips flexed and abducted
- regularly review baby and can remove harness when hips are more stable, usually after 6-8 weeks
- Surgery if harness fails or baby presents after 6 months of age
- use a hip spica cast to immobilise hip afterwards
9
Q
What is a talipes?
A
Also called “clubfoot”, It is a fixed abnormal ankle position that presents at birth.
Talipes equinovarus = ankle in plantar flexion and supination
Talipes calcaneovalgus = ankle in dorsiflexion and pronation
10
Q
What is positional talipes?
A
Positional talipes = resting ankle position is in plantar flexion and supination. However it is not fixed and can be moved back to normal position. There is no structural boney problem, the muscles are just slightly tight around the ankle.
Manage with physiotherapist and it will resolve over time.
11
Q
How would you manage talipes?
A
-
Ponseti method started almost immediately after birth
- foot is manipulated towards normal position and a cast is applied to hold it in position
- this is repeated until the foot is in the correct position
- sometimes an achilles tenotomy to release tension in the achilles tendon is performed in clinic
- Finally, once treatment with the cast is finished a brace is used to hold the feet in the correct position when not walking, until child is 4 years old
12
Q
What is achondroplasia?
A
- It is the most common cause of disproportionate short stature (dwarfism).
- It is a type of skeletal dysplasia
- occurs due to a sporadic mutation or ineritance of an abnormal copy of the FGFR3 gene (Fibroblast growth factor receptor 3) on Chromosome 4
- this causes abnormal function of the epiphyseal plates which restricts bone growth in length
- Autosomal dominant
- Homozygous gene mutations are fatal in the neonatal period
- All patients with achondroplasia are heterozygous
13
Q
What are some features of achondroplasia?
A
- disproportionate short stature (average around 4 feet)
- proximal limbs (femur and humerus) are more affected than bones of forearm and lower leg.
- Spine is least affected and most patients have a normal trunk length
- Short digits
- bow legs (genu varum)
-
disproportionate skull
- flattened mid-face and nasal bridge
-
foramen magnum stenosis
- can lead to cervial cord compression and hydrocephalus
- cranial vault grows and fuses via membranous ossification (unaffected by achondroplasia) and leads to a normal sized vault and frontal bossing (prominent forehead)
- recurrent otitis media due to cranial abnormalities
- associated with kyphoscoliosis, spinal stenosis
14
Q
How would you manage achondroplasia?
A
- MDT supportive management (dieticians, physiotherapists, occupational therapists, orthopaedic and ENT surgeons, paediatricians, specialist nurses)
- Leg lengthening surgery to add height but is controversial and can cause chronic pain and reduced function
15
Q
What is Rickets?
A
- A condition affecting children where there is defective bone mineralisation causing soft deformed bones (in adults this is osteomalacia)
- It is due to vitamin D or calcium deficiency
- Vit D is produced in response to sunlight or obtained through eggs, oily fish, fortified cereals or supplements
- Calcium is found in dairy products and green vegetables
- A rare form of rickets caused by low phosphate in the blood = hereditary hypophosphataemic rickets
16
Q
Describe the pathophysiology of rickets
A
- Vitamin D is created from cholesterol by the skin in response to UV radiation
- those with darker skin require a longer period in the sun to generate the same quantity of vit D
- An average diet contains inadequate levels of vit D to compensate for lack of sun exposure, so people with reduced exposure should take vit D supplementation
- Diseases like IBD or other malabsorption disorders and CKD (kidneys metabolise vit D to its active form calcitriol) are associated with vitamin D deficiency
- Vitamin D is essential for calcium and phosphate absorption from the intestines and kidneys
- Calcium and phosphate are required for construction of bone so low levels result in defective bone mineralisation
- Low calcium causes secondary hyperparathyroidism
- parathyroid gland tries to raise Ca2+ level by s_ecreting parathyroid hormone_
- PTH stimulates increased reabsorption of Ca2+ from the bones, which causes more problems with bone mineralisation
17
Q
How would rickets present?
A
- lethargy
- bone pain
- swollen wrists
- bone deformity
- poor growth
- dental problems
- muscle weakness
- pathological or abnormal fractures
Bone deformities…
- bowing of the legs (legs curve outwards)
- knock knees (legs curve inwards)
- rachitic rosary (ends of ribs expand at costochondral junctions, causing lumps on the chest)
- craniotabes (soft skull) with delayed closure of sutures and frontal bossing
- delayed teeth + underdevelopment of enamel
18
Q
How would you investigate rickets?
A
- serum 25-hydroxyvitamin D of <25nmol/L = vitamin D deficiency
- Xray to diagnose rickets
- can show osteopenia (more radiolucent bones)
- Serum calcium may be low
- serum phosphate may be low
- serum alkaline phosphatase may be high
- parathyroid hormone may be high
Look for other pathologies…
- FBC and ferritin for iron deficiency anaemia
- ESR and CRP for inflammatory conditions
- U&Es for kidney disease
- LFTs for liver pathology
- TFTs for hypothyroidism
- Malabsorption screen like anti-TTG antibodies for coeliac
- Autoimune and Rheumatoid tests
19
Q
How would you manage rickets?
A
Main management is prevention:
- breast fed babies are at a higher risk of vitamin D deficiency!
- formula feed is fortified with vitamin D
- Breastfeeding women and all children should take vitamin D supplements
- 400IU (10mcg) per day for children
Management:
- Treat vitamin D deficiency with Vitamin D (ergocalciferol)
- 6 months-12 years old = 6000IU/day for 8-12 weeks
- Refer kids with rickets symptoms to a paediatrician
- treat rickets with Vitamin D and Calcium supplements
20
Q
What is the difference between children bones/fractures to adult bones/fractures?
A
- Children have growth plates
- Children bones have more cancellous bone (spongier, highly vascular bone in the centre of long bones)
- this makes their bones more flexible but less strong than adult bones that have more cortical bone (compact hard bone)
- Therefore children are more prone to greenstick fractures (one side of the bone breaks while the other side stays intact)
- Children are also more likely to have buckle fractures due to less strength against compression
- Childrens bones have a better blood supply so heal more quickly with less deformity than adults
- Childrens bones have a higher capacity for remodelling so even if they are set at an incorrect angle, they can remodel over time to return to the correct shape
21
Q
What classification is used for fractures through the growth plate?
A
Salter-Harris classification
SALTR mneumonic
Type 1 = Straight across
2 = Above
3 = Below
4 = Through
5 = Crush
22
Q
How would you generally manage a fracture in a child?
A
Pain management: WHO pain ladder
- 1st line = paracetamol or ibuprofen
- 2nd line = morphine
- We do not use codeine and tramadol in kids as there is unpredictability in their metabolism
- Aspirin is contraindicated in <16 year olds due to risk of Reye’s syndrome (only used in certain circumstances like Kawasaki disease)
- Safeguarding!!!
- Mechanical alignment
- via Closed reduction (manipulation of the joint)
- or Open reduction in surgery
- Provide relative stability to allow healing
- via external casts, K wires, intramedullary wires and nails, plates and screws
23
Q
What are some classical causes of hip pain a kids?
0-4
5-10
10-16
A
0-4 years old
- septic arthritis
- DDH
- transient sinovitis
5-10
- septic arthritis
- transient sinovitis
- perthes disease
10-16
- septic arthritis
- slipped upper femoral epiphysis (SUFE)
- juvenile idiopathic arthritis
24
Q
What criteria does NICE say to urgently refer a limping child for assessment?
A
- <3 years old
- >9 years old with a restricted or painful hip
- not able to weight bear
- evidence of neurovascular compromise
- severe pain or agitation
- suspicion of abuse
-
red flags for serious pathology
- child <3 years old
- fever
- waking at night with pain
- weight loss
- anorexia
- night sweats
- fatigue
- persistent pain
- stiffness in the morning
- swollen or red joint
25
Septic arthritis is an infection inside a joint and is an emergency!!!
Recognition is essential, how would it present?
* affects a single joint (often knee or hip)
* rapid onset of...
* hot red swollen painful joint
* refusing to weight bear
* stiffness and reduced range of motion
* systemic symptoms such as fever, lethargy, sepsis
Can be subtle in young kids so suspect it if a kid has joint problems
(other differentials = Transient Sinovitis, Perthes disease, SUFE, Juvenile idiopathic arthritis)
26
What are some common bacteria in septic arthritis?
Commonly Staphylococcus aureus
* Neisseria gonorrhoea (in sexually active teens)
* Group A Strep like Streptococcus pyogenes
* Haemophilus influenza
* Eschericia coli
27
How would you manage septic arthritis?
have a low threshold for treating septic arthritis, until it has been excluded with examination of joint fluid
* **admit** to hospital and refer to orthopaedic team
* **aspirate joint prior to antibiotics**
* send for _Gram staining, crystal microscopy, culture and antibiotic sensitivities_
* Give **empirical IV antibiotics** until microbial sensitivities are known
* continue for 3-6 weeks when septic arthritis is confirmed
* Sometimes may require **surgical drainage and washout** of joint to clear infection in severe cases
28
What is an osteosarcoma?
* a type of bone cancer that presents in people aged 10-20 years.
* Most common bone to be affected is the _femur_
* other common sites are _humerus and tibia_
* Mainly just present with **persistent bone pain**, particularly _worse at night time_ that may wake them from sleep
* also can present with **bone swelling**, a **palpable mass**, **restricted joint movements**
29
How would you diagnose osteosarcoma?
* _urgent direct access Xray within 48 hours_ of children presenting with unexplained bone pain or swelling
* if Xray suggests possible sarcoma, give _urgent specialist assessment within 48 hours_
* Xray features =
* **poorly defined lesion in the bone**, with **destruction of normal bone** and a **"fluffy" appearance**
* **periosteal reaction** (irritation of the lining of the bone) described as a **"sun-burst" appearance**
* associated **soft tissue mass**
* Bloods = **raised Alkaline Phosphatase** (ALP)
* Staging = CT, MRI, Bone scan, PET scan, Bone biopsy
30
How would you manage an osteosarcoma?
* surgical resection of the lesion, often with limb amputation
* adjuvant chemotherapy to improve outcomes
* MDT input (paediatric oncologist and surgeons, specialist nurses, physiotherapy, occupational therapy, psychology, dietician, prosthetics and orthotics, social services)
Monitor for complications = pathological bone fractures and metastasis
31
What is osteomyelitis?
* an infection in the bone and bone marrow, typically occuring int he metaphysis of long bones
* Most common bacteria = Staph aureus
* can be acute or chronic
* the infection can occur directly into the bone (eg. from open fracture), or have travelled to the bone through blood, etc.
32
How would a patient presenting with osteomyelitis present? (hx and clinically)
Risk factors in hx:
* open bone fracture
* orthopaedic surgery
* immunocompromised
* sickle cell anaemia
* HIV
* TB
Presentation:
* refusing to use limb or weight bear
* pain
* swelling
* tenderness
* afebrile or low grade fever
* acute ostemyelitis can present with a high fever, esp if it has spread to the joint and caused septic arthritis
33
How would you investigate osteomyelitits?
* Xray can sometimes be normal
* **MRI** is the best for diagnosis
* **Bone scan** can also diagnose
* CRP and ESR and WCC raised in response to infection
* Blood culture for causative organism
* Bone marrow aspiration or bone biopsy with histology and culture may be necessary
34
How would you manage osteomyelitis?
* extensive and prolonged antibiotic therapy
* may require surgery for drainage and debridement of infected bone
35
When would you suspect transient synovitis?
* It is a common cause of hip pain in kids 3-10 years old
* caused by temporary (transient) irritation and inflammation in the synovial membrane of the joint (synovitis)
* Associated with **recent viral Upper Resp Tract Infection**
* Remember to always think about septic arthritis if there is joint pain + fever (TS would not typically have fever)
Presentation:
* symptoms present within a few weeks of a viral illness
* limp
* refusal to weight bear
* groin or hip pain
* mild low grade temp
36
How would you manage transient synovitis?
* analgesia to ease discomfort
* exclude other diagnoses like septic arthritis
NICE (kid 3-9 yeras old with symptoms suggesting TS)
* if limp is present for \<48 hours and kid is otherwise well, manage in primary care
* give **safety net advice** to attend a&e immediately if symptoms get worse or they develop a fever
* follow up at 48 hours and 1 week to ensure symptoms are resolving
37
What is Perthes disease?
* This involves **disruption of blood flow to the femoral head**, causing **avascular necrosis** of the bone.
* this affects the epiphysis of the femur (the bone distal to the growth plate - physis)
* Over time there is **revascularisation/ neovascularisation**, and healing of the femoral head
* there is **remodelling of the bone** as it heals
* main complciation is a **soft deformed femoral head** resulting in **early hip OA** which may need an **artificial THR**
* Occurs in kids 4-12 years old, commonly in boys
* Idiopathic = no clear trigger for the AVN
38
How does Perthes disease present?
Slow onset...
* pain in the hip or groin
* limp
* restricted hip movements
* referred pain to the knee
There is no hx of trauma.
(If the pain was triggered by minor trauma, think Slipped Upper Femoral Epiphysis especially in older kids)
39
How would you investigate Perthes disease?
* Xray is the initial investigation but it can be normal
* bilateral ap pelvic xray and "frog leg" lateral xray
* **ESR, CRP**
* **Technetium bone scan**
* **MRI scan**
40
How would you manage Perthes disease?
Conservative treatment in less severe.
(Aims to maintain a healthy position and alignment in the joint, and reduce the risk of damage or deformity to the femoral head.)
* Bed rest
* traction
* crutches
* analgesia
Other management
* Physiotherapy to retain range of movements without putting excess strain on the bone
* regular Xrays to assess healing
* Surgery for severe cases or nonhealing cases
41
Describe the pathophysiology of Kawasaki disease
* also known as mucocutaneous lymph node syndrome
* a **systemic medium-sized vessel vasculitis**
* more common in Japanese and Korean children, kids under 5 years old, and more common in boys
It consists of 3 phases...
* Acute phase (lasts 1-2 weeks) = child is unwell with **fever, rash, lymphadenopathy**
* Subacute phase (lasts 2-4 weeks) = acute symptoms settle, **desquamation** and **arthralgia** occur and there is a **risk of coronary artery aneurysms forming**
* Convalescent stage (lasts 2-4 weeks) = remaining symptoms settle, blood tests slowly return to normal, coronary artery aneurysms may regress
42
What are some clinical features that Kawasaki disease would present with?
* persistent **high fever \>39** for **more than 5 days**!!!!!
* Widespread erythematous maculopapular rash
* **desquamation** (skin peeling) **on palms and soles** of feet
* Child will be unhappy and unwell
* **Strawberry tongue** (red tongue with large papillae)
* Cracked lips
* **Cervical lymphadenopathy**
* **Bilateral conjunctivitis**
**ALWAYS think kawasaki in fever persisting \>5 days.** _Strawberry tongue, rash, lymphadenopathy and conjunctivitis_ **should seal the diagnosis.**
43
How would you investigate for Kawasaki disease?
* FBC can show anaemia, leukocytosis and thrombocytosis
* LFTs can show hypoalbuminaemia and elevated LFTs
* inflammatory markers (ESR in particular) are raised
* Urinalysis can show raised WBC without infection
* Echocardiogram can show coronary artery pathology
44
How would you manage Kawasaki disease?
* **high dose aspirin** to reduce risk of thrombosis
* _aspirin is usually avoided_ in kids due to risk of _Reye's syndrome._ This is one of the few circumstances it is used.
* **IV immunoglobulins** to reduce risk of coronary artery aneurysms
* closely follow up the patient with **echocardiograms** to monitor for evidence of coronary artery aneurysms
45
Describe the pathophysiology of Rheumatic Fever
* It is a multisystem autoimmune condition caused by **Group A Beta-haemolytic Streptococci**
* (typically _streptococcus pyogenes causing tonsillitis_)
* this happens because the body produces antibodies to fight the streptococcus bacteria, however they also end up targetting tissues in the body
* eg. the antibodies match antigens on body cells like muscle cells in the myocardium in the heart
* This results in a **type 2 hypersensitivity reaction** where the immune system begins attacking body cells
* This process usually occurs **2-4 weeks after initial infection**
*
46
How does rheumatic fever typically present?
(systemic, heart, skin, joints, CNS)
2-4 weeks following a strep infection eg. tonsillitis
* Systemic = fever, joint pain, rash, SOB, chorea, nodules
* Joints = **migratory arthritis affecting large joints**
* hot, swollen, painful joints
* migratory = different joints become inflamed and improve at different times
* Heart = **carditis** with **pericarditis, myocarditis and endocarditis** results in...
* _tachycardia_ or _bradycardia_
* _murmurs_ from valvular heart disease (typically _mitral_ valve)
* _pericardial rub_ on auscultation
* _HF_
* Skin...
* **subcutaneous nodules** = firm painless nodules over extensor surfaces of joints like elbows
* **erythema marginatum** = pink rings of varying size across torso and proximal limbs
* Nervous System...
* **Chorea** = irregular, uncontrolled rapid movements of the limbs
* also known as Sydenham chorea or St Vitus' Dance
47
How would you investigate for rheumatic fever?
* **Throat swab** for bacterial culture
* **Antistreptococcal antibody (ASO) titres**
* levels typically rise over 2-4 weeks after acute infection, peak at 3-6 weeks, fall over 3-12 months
* _Repeat ASO levels in 2 weeks_ to confirm -ve test or assess whether levels are rising or falling
* **Echocardiogram, ECG, CXR**
48
What is the Jones Criteria?
It is used to diagnose rheumatic fever.
Diagnosis of rheumatic fever can be made when there is evidence of recent strep infection plus...
* 2 Major criteria
* OR 1 Major criteria + 2 Minor criteria
Major Criteria = **JONES**
J - joint arthritis
O - organ inflammation eg. carditis
N - nodules
E - erythema marginatum rash
S - sydenham chorea
Minor Criteria = **FEAR**
F - fever
E - ECG changes (prolonged PR interval) without carditis
A - arthralgia without arthritis
R - raised inflammatory markers (crp and esr)
49
How would you manage rheumatic fever?
* Treat strep infections with antibiotics to prevent them developing into rheumatic fever
* treat strep tonsillitis with **phenoxymethylpenicillin (Penicillin V) for 10 days**
Patients with clinical features of rheumatic fever should be referred for specialist management...
* **NSAIDs** like ibuprofen = treat joint pain
* **Aspirin and steroids** = carditis
* **Prophylactic antibiotics (oral or IM penicillin)** to prevent further strep infections and recurrence of rheumatic fever
* Monitor for complications eg. recurrence of rheumatic fever, _valvular disease (mitral stenosis)_, chronic heart failure
50
What is Juvenile idiopathic arthritis?
* a condition affecting children and adolescents where autoimmune inflammation occurs in the joints.
* diagnosed when there is arthritis without a known cause, that _lasts \>6 weeks_ in a _patient \<16 years old_
* features of inflammatory arthritis = **joint pain, swelling, stiffness**
there are 5 types of JIA...
* systemic JIA
* polyarticular JIA
* oligoarticular JIA
* enthesitis related arthritis
* juvenile psoriatic arthritis
51
Describe Systemic JIA (Still's disease)
Features...
* **subtle salmon pink rash**
* **high swinging fevers**
* ****In kids that present with _fevers \>5 days_, non-infective differentials are *Kawasaki disease, Still's disease, Rheumatic Fever, Leukaemia*
* enlarged lymph nodes
* weight loss
* **joint inflammation and pain**
* splenomegaly
* muscle pain
* pleuritis and pericarditis
Investigations...
* antinuclear antibodies and Rheumatoid Factor are negative
* Raised CRP, ESR, Serum ferritin
52
What is a key complication of Stills disease?
Macrophage activation syndrome
* severe activation of the immune system with a massive inflammatory response
* presents with an acutely unwell child with _DIC, anaemia, thrombocytopaenia, bleeding, and non-blanching rash_
* Key investigation = **Low ESR**
53
What is polyarticular JIA?
idiopathic inflammatory arthritis in 5 joints or more
* tends to be symmetrical
* minimal systemic symptoms, but can have mild fever, anaemia, reduced growth
54
What is oligoarticular JIA?
* also known as pauciarticular JIA
* involves **4 joints or less**
* usually only affects a single joint (monoarthritis) and tends to affect larger joints like knee or ankle
* more frequent in girls \<6 years old
* **Anterior Uveitis** is commonly associated (refer to opthalmologist)
* No systemic symptoms
* inflammatory markers mildly elevated or normal, ANA often positive, RF usually negative
55
What is Enthesitis-related arthritis?
* more common in males \>6 years old
* thought to be like the seronegative spondyloarthropathy group of conditions that affect adults
* ankylosing spondylitis, psoriatic arthritis, reactive arthritis, inflammatory bowel disease related arthritis
* patients present with _inflammatory arthritis in the joints_ as well as _enthesitis_ (inflammation of point of insertion of tendons/ligaments into the bone)
* Enthesitis can be due to _traumatic stress_ (eg repetitive strain during sports) or _autoimmune inflammatory processes_
* enthesitis is diagnosed via **MRI** of affected joint
* localised palpation of entheses is **tender**
* Majority of enthesitis-related arthritis will have **HLA B27 gene**
* commonly associated symptoms of **psoriasis** (psoriatic plaques and nail pitting) and **IBD** (intermittent diarrhoea and rectal bleeding) and **Anterior Uveitis** (refer to ophthalmologist for screening)
56
What is juvenile psoriatic arthritis?
* seronegative inflammatory arthritis associated with psoriasis
* Pattern of joint involvement varies...
* can have symmetrical polyarthritis affecting the small joints similar to Rheumatoid
* OR asymmetrical arthritis affecting large joints in the lower limb
Associated signs...
* plaques of psoriasis on skin
* pitting of the nails
* onycholysis (separation of nail from nail bed)
* dactylitis (inflammation of the full finger)
* enthesitis (inflammation of the entheses)
57
How would you manage juvenile idiopathic arthritis?
* **NSAIDS** like ibuprofen
* **Steroids** (oral, IM or intraarticular in oligoarthritis)
* Disease Modifying Anti-Rheumatic Drugs (**DMARDs**) like _methotrexate, sulfasalazine, leflunomide_
* Biologic therapy eg. tumour necrosis factor inhibitors (_entanercept, infliximab, adalimumab_)
58
What is Henoch-Schonlein Purpura
* an IgA vasculitis that presents with a **purpuric rash** affecting the **lower limbs and buttocks** in children
* inflammation occurs due to **IgA deposits in the blood vessels**
* The rash is caused by inflammation + leaking of blood from small blood vessels under the skin, forming purpura
* affects _skin, kidneys, gastrointestinal tract_
* usually triggered by _Upper Resp Tract Infection or Gastroenteritis_
59
How would HSP present?
Four classic features are...
* **red-purple Purpura** (100%)
* **Joint pain** (75%)
* _arthralgia or arthritis_ typically in _knees and ankles_
* **Abdo pain** (50%)
* indicates gastrointestinal involvement.
* can result in _GI haemorrhage, intussusception and bowel infarction_ in severe cases
* **Renal involvement** (50%)
* can result in an _IgA nephritis_
* leads to microscopic or macroscopic _haematuria_ and _proteinuria_
* if there is \>2+ protein on urine dip, child has developed _nephrotic syndrome_ and will present with oedema
60
How would you investigate HSP?
Investigations are to...
* Assess for other organ involvement
* exclude other serious pathology and other causes of non-blanching rash (meningococcal septicaemia, leukaemia, ITP, HUS)
Investigations...
* FBC and blood film for thrombocytopaenia, sepsis and leukaemia
* 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 proteinuria
* Blood pressure for HTN
* EULAR/PRINTO/PRES criteria for HSP from 2010
* patient must have palpable purpura (not petichiae) AND at least 1 of...
* diffuse abdo pain
* arthritis/arthralgia
* IgA deposits on histology
* proteinuria or haematuria
61
How would you manage HSP?
* supportive with simple analgesia, rest, hydration
* steroids can be considered
* Monitor with...
* urine dipstick for renal involvement
* blood pressure for HTN
62
What is Ehlers-Danlos Syndrome?
* an umbrella term that encompasses a group of genetic conditions that causes defects in collagen = **hypermobility** of the joints and **abnormalities in connective tissue** (affects skin, bone, blood vessels, organs)
63
What are the 4 types of ED Syndrome?
Hypermobile Ehlers-Danlos Syndrome
* most common and least severe EDS
* key features = j**oint hypermobility**, **soft and stretchy skin**
Classical Ehlers-Danlos Syndrome
* remarkably **stretchy skin** that feels **smooth and velvety to touch**
* **severe joint hypermobility**
* joint pain
* **abnormal wound healing**
* lumps over pressure points like elbows
* prone to _hernias, prolapses, mitral regurt, aortic root dilation_
* inheritance = autosomal dominant
Vascular Ehlers-Danlos Syndrome
* most dangerous EDS
* **blood vessels are very fragile** due to defective collagen
* characteristic **thin, translucent skin** that you can almost see through
* skin, internal organs and arteries are f_ragile and prone to rupturing_
* Monitor patients for _vascular abnormalities_ and advise to seek help for sudden unexplained bleeding/pain
* Inheritance = autosomal dominant
Kyphoscoliotic Ehlers-Danlos Syndrome
* characterised by **initial poor tone (hypotonia) in neonate**, then **kyphoscoliosis** as they grow older
* significant **joint hypermobility**
* patients tend to be tall and slim
* risk of _rupture in medium sized arteries_
* Inheritance = autosomal dominant
64
What is the scoring system used for Hypermobility?
Beighton score is used to assess extent of hypermobility and support the diagnosis of hypermobility syndrome.
One point is scored for each side of the body, max score of 9...
* palms flat on floor with straight legs (score 1)
* _elbows_ hyperextend
* _knees_ hyperextend
* _thumb_ can bend to touch forearm
* _little finger_ hyperextends past 90 degrees
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How would you manage EDS?
* diagnosis is made using Beighton score
* exclude Marfan syndrome which also features hypermobility
* examine for high arch palate, arachnodactyly, arm span
Management
* physiotherapy to strengthen/stabilise joints
* occupational therapy to maximise function
* maintain good posture in joints
* control ammounts of intense activity to minimise flares
* psychology can help manage chronic condition and pain
Monitor for **postural orthostatic tachycardia syndrome**
* inappropriate tachycardia on sitting or standing up
* results in syncope, presyncope, headaches, disorientation, nausea, tremor
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How would you differentiate between Transient Sinovitis and SA?
kocher criteria!!!! the more criteria it fulfills, the higher chance it is of being SA
* Non weight bearing
* Pyrexia \>38.5C
* ESR \>40mm/hr
* WBC \>12,000 cells/mm3
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How would you investigate these...
* developmental dysplasia of the hip
* Perthes disease
* slipped upper femoral epiphysis
* Septic Arthritis
*
* DDH = barlows and ortolani tests, **US hip**
* Perthes = **MRI** as may be missed on Xray
* SUFE = **Hip Xray**
* Septic Arthritis = **joint aspiration** for raised WBC, blood cultures, raised inflammatory markers
* **Kocher Criteria** (fever, non weight bearing, raised esr, raised wcc)
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What history would you expect from....
DDH
Perthes
Slipped upper femoral epiphysis
DDH = common in extended breech, diagnosed from screening at birth, child may limp and then early onset arthritis
Perthes = hip pain (referred to knee) in 5-12 year olds.
SUFE = obese male adolescents, hip pain often referred to knee, limited internal rotation
