Some Pediatric Rheumatic

Diseases

Eman M Fahmy
Introduction
Rheumatic diseases are autoimmune and
inflammatory diseases that cause your immune
system to attack your joints, muscles, bone.

Rheumatic diseases are often grouped under the

term “arthritis” which is used to describe over
100 diseases and conditions
Rheumatic diseases can cause damage to your
vital organs, including the lungs, heart, nervous
system, kidneys, skin and eyes.
Rheumatic diseases may result in conditions so
severe that those who suffer from them cannot
bathe or dress themselves. Additionally, a simple
task such as walking can cause pain and be
difficult or even impossible.
Rheumatic disease can develop in people of any age, sex or
race. some people are more susceptible to some than others.

Some contributing factors to the disease, includes:

Genetics: PTPN22 gene,
Environmental factors: sun light and infection
Gender : women
Age : puberty
Pediatric Arthritis
Pediatric rheumatic diseases is an umbrella term
encompassing the spectrum of musculoskeletal
and connective tissue disorders which begin
during childhood (under the age of 16 to 18
years).
Although pediatrics Rheumatic diseases share
many common symptoms, such as pain, joint
swelling, redness and warmth, they are distinct
and each have their own sets of signs and
symptoms.
Some examples of Paediatric Rheumatic
diseases

• Juvenile idiopathic arthritis (JIA) which is

considered the most common form of chronic
arthritis children.
Juvenile dermatomyositis (JDM), which is an
autoimmune disease which causes muscle weakness and
skin rashes.
Juvenile systemic lupus erythematosus (jS
LE)
, which is an autoimmune condition which can
affect the skin, joints, blood, kidneys and central
nervous system (in addition to other parts of the
body).
Juvenile scleroderma, which describes a group of
conditions that causes the skin to tighten and harden.
Vasculitis : Henoch-Schoenlein purpura,
kawasaki disease)
Juvenile systemic lupus erythematosus

(j SLE) is a long-term, autoimmune condition,

meaning that the immune system malfunctions
and attacks the body's organs and tissues,
especially the skin, joints, blood, kidneys and
central nervous system.

JSLE appears before the age of 18, though some

healthcare professionals may also call it
paediatric SLE or childhood-onset SLE.
The term SLE is used on its own when it is
diagnosed in people over the age of 18.
The name "systemic lupus erythematosus" dates
back to the early 20th century. "Systemic" means
that it affects many organs of the body. The word
"lupus" is derived from the Latin word for "wolf"
and it refers to the characteristic butterfly-like rash
on the face, which is similar to the white markings
on a wolf’s face. "Erythematosus" in Greek means
"red" and it refers to the redness of the skin rash.
In Europe, around 1 in 2,500 people are diagnosed
with SLE, and about 15% of all people with SLE are
diagnosed before they are 18. Females of child-
bearing years (15 to 45) are most often affected and,
in that particular age group, the ratio of affected
females to males is 9 to 1.
Before puberty, the proportion of affected males is
higher and about 1 of every 5 children with SLE is
male.
Diagnosis
Accoding to American college of rheumatology
(ACR)1997 pt should fillifed at least 4/11

Systemic lupus international collaborating clinics

(SLICC) 2012 at least 4/17 at least 1 of 11 clinical
criteria and 1 of 6 immunological antibodies or
biopsy proved lupus nephritis with positive ANA or
Anti dsDNA
Immunological antibodies required
ANA test : it is positive in virtually all patient of SLE
( highly sensitive but not specific) so if it is positive we
should search about specific antibodies (antidsDNA,
anti SM)
If it is negative with high suspicion of lupus, other
antibodies must be done. negative result d t sensitivity
of method used to detect ANA (solid phase assay more
sensitive than indirect immunoflurescent) and
duration of illness loss of reactivity
0ther antibodies :
Antiphospholipid anti bodies (LAC IgM, IgG, ACL
IgG, IgM )
Anti RNP Anti RO/SSA and Anti LA/SSB
Anti ribosomal P protien
Anti RBCS anibodies (coomb”s test)
Management

There is no permanent cure for SLE. The goal of

treatment is to relieve symptoms and protect organs by
decreasing inflammation and/or the level of
autoimmune activity in the body.
most people with SLE lead full, active, and
healthy lives. Periodic increases in disease
activity (flares) can usually be managed by
varying medications
No two cases of lupus are alike
Symptoms, and the course of the disease vary
widely
ultraviolet light can precipitate and worsen
flares, people with systemic lupus should avoid
sun exposure. Sunscreens and clothing covering
the extremities can be helpful. Abruptly stopping
medications, especially corticosteroids, can also
cause flares and should be avoided.
People with SLE are at increased risk of
infections as complications, especially if they are
taking corticosteroids or immunosuppressive
medications. Therefore, any unexpected fever
should be reported to medical professionals
1- Skin and musculoskeletal manifistations

- Low dose of steroid (1mg/kg) till inflammatory marker

normalize.

- Hydroxychloroquine (Plaquenil)
- Methotrexate
2- Internal organ affection

- High dose steriod

- Cytotoxic drugs: (azathioprine (Imuran),
cyclophosphamide (Cytoxan), cyclosporine
(Sandimmune).
In SLE patients with serious brain (lupus
cerebritis) or kidney disease (lupus nephritis),
plasmapheresis is sometimes used to remove
antibodies and other immune substances from
the blood to suppress immunity.
Rituximab (Rituxan) anti CD20 :
Rituximab is an intravenously infused antibody
that suppresses a particular white blood cell, the B
cell, by decreasing their number in the circulation.
B cells have been found to play a central role in
lupus activity, esp severe and refractory (active
cerebritis or nephritis)
What is JIA?
Juvenile idiopathic arthritis (JIA) is a
chronic, long-term arthritis characterised by
pain associated with swelling and restricted
movement of joints. The term chronic is defined
as lasting more than 6 weeks
JIA affects 1 out of every 1000 children under
the age of 16. This is where ‘juvenile’ comes from
- because symptoms usually occur before the age
of 16 years. ‘Idiopathic' means that we do not
know the cause of the condition
When joints are inflamed they are swollen due
to increased intra-articular fluid and painful.
Some times joint swelling not marked so
arthritis is detected by presence of pain
associated with either redness, stiffness and
decrease rang of motion
There are several different forms of JIA, with
different severities. They are mainly
distinguished by the number of joints affected
oligoarticular JIA – less than 5 joints
polyarticular JIA – 5 or more joints)
systemic JIA - with a fever and/or rash.
• Diagnosis of the different forms is made by
observing the symptoms during the first 6
months of the condition. The eyes of children
and young people with JIA can also be affected
by inflammation. This is known as uvuitis.
Therefore, it’s important that children and
young people have regular eye examinations.
Systemic JIA
Systemic onset JIA accounts for 5%∼15% of children with JIA in North America and

Europ.

Systemic JIA is defined as the presence of arthritis of one or more joint

accompanied or preceded by a daily (at least 3 DW) intermittent spiky fever more

than 39oC, lasting more than 2 weeks, and at least one of the following:

-- characteristic evanescent rash,

-- generalized lymphadenopathy,

-- serositis,

-- hepatomegaly, or splenomegaly .
Although there are no specific laboratory findings, systemic

inflammatory signs are always present. Laboratory findings show

leukocytosis with neutrophilia, thrombocytosis,

elevated erythrocyte sedimentation rate (ESR), and elevated C-

reactive protein. Microcytic anemia is also a common lab finding

so we should exclude other mimic diseases

Since children are also growing, it is important to prevent damage
to the joints and bones with the aid of appropriate treatment.
Treatment and support should aim to address the physical,
psychological and social health of every child or young person So
we aim for early diagnosis and treatment
Treatment of JIA
Systemic JIA : steroid is the main treatment
Refractory cases add biological therapy

Poly articular JIA and oligoarticular JIA :

NSAID , Methotrexate injection. Refractory
cases add biological therapy
Kawasaki disease

KD is the second most common vasculitis in

childhood after Henoch Schönlein purpura, and
is the most common cause of acquired heart
disease in children in high-income countries.
Lack of appropriate treatment leads to coronary
artery aneurysms (CAA) in approximately 25%
of cases.
Kawasaki disease
Kawasaki disease is a condition that
mainly affects children under the age of 5.
It's also known as mucocutaneous lymph
node syndrome.
A child with Kawasaki disease has a high
temperature that lasts for 5 days or longer, and
possibly 4 of 5 of the following symptoms:
• a rash
• swollen glands in the neck
• dry, red cracked lips a swollen, bumpy, red
tongue (“strawberry tongue”)
• swollen and red hands and feet
• red eyes
 Diagnosis KD

There's no single test to diagnose Kawasaki

disease, but there are some key signs that
suggest a child may have this condition.

The National Institute for Health and Care

Excellence (NICE) states that your child may
have Kawasaki disease if they have:
a high temperature for 5 days or longer at least 4 other key symptoms

These symptoms include:

Conjunctival congestion both eyes – where the whites of your child's eyes

are red and swollen without fluid leaking from their eyes

changes to the mouth or throat – such as dry, red, cracked lips, a red,

swollen tongue, or red inside the mouth or at the back of the throat

changes to the hands and feet – such as swollen or painful hands or feet, or

red or peeling skin on the palms of the hands or the soles of the feet

Skin rash: erythmatous polymorphous rash common affect trunk and

extremities
• Swollen lymph nodes in the neck: most
common unilateral and tender, less common
and usually in old childern

Children under 1 year of age may not have

as many of the key symptoms compared
with older children
Other common findings
in addition to the diagnostic criteria include:
• neurological: irritability, aseptic meningitis
• GIT symptoms: abdominal pain, vomiting,
diarrhoea, gallbladder hydrops
• arthralgia / arthritis
• dysuria
Incomplete Kawasaki disease

Consider in a child with a clinical presentation

suggestive of KD but not meeting the full
diagnostic criteria
Requires abnormal investigation results to
support the diagnosis
Infants and adolescents often present with an
incomplete picture and are at a higher risk for
cardiac complications
 Consider incomplete KD in:
A child with fever for at least 5 days combined with 2 or 3 of the
principal clinical features OR
An infant with one/more of the following features:
▫ fever ≥7 days +/- irritability without other explanation
▫ prolonged fever and unexplained aseptic meningitis

A child or infant with prolonged fever and:

▫ shock
▫ cervical adenitis not responsive to oral antibiotics

Incomplete KD can present a significant diagnostic dilemma,

however once the diagnosis is made, the treatment for KD and
incomplete KD is identical
Investigations in KD

• There is no diagnostic test for KD. Laboratory tests

provide support for diagnosis, assessment of severity,
and monitoring of disease and treatment
• Echocardiogram: discuss with cardiology specific
timing of initial and follow-up studies. Suggested
schedule:
▫ At presentation (this should not delay initiation of
treatment)
▫ 2 weeks
▫ 6 weeks
Lab investigations done
CBC ,ESR, CRP , liver and kidney function
• Common abnormalities include elevation of ESR,
CRP and neutrophils.
• Thrombocytosis is common in the second week of
illness.
• Elevated liver enzymes
• Sterile pyrea
Complications
• Complications of Kawasaki disease usually affect the
heart. This means your child may need some tests to
check their heart is functioning normally.
• These must include:
• an electrocardiogram (ECG)
• an echocardiogram – where high-frequency sound
waves are used to produce images of the heart,
which can confirm whether there are any problems
with the heart's structure or function
• During the acute phase of Kawasaki disease (weeks 1
to 2), several heart abnormalities may be identified.
• These could include:
• a rapid heart rate (tachycardia)
• a collection of fluid in the heart (pericardial effusion)
• inflammation of the heart muscle (myocarditis)
• coronary artery swelling (aneurysms)
Treatment of KD
Treatment should begin as soon as
possible.

The 2 main treatments for Kawasaki disease are:

⮚aspirin
⮚intravenous immunoglobulin
Aspirin

It's used to treat Kawasaki disease because:

• it can ease pain and discomfort
• it can help reduce a high temperature
• at medium or high doses, aspirin is an anti-
inflammatory (it reduces swelling) 30- 50 mg /kg
(medium dose) or 80-100mg/kg( high dose)
• They'll probably be given medium or high-dose aspirin
until their temperature subsides( 48 hour or 2 weeks) .
• At low doses, aspirin is an antiplatelet (it
prevents blood clots forming) 3-5 mg/kg
• low-dose aspirin until 6 to 8 weeks after the
start of their symptoms.
Intravenous immunoglobulin

• Intravenous immunoglobulin is also called IVIG.

Immunoglobulin is a solution of antibodies
taken from healthy donors. Intravenous means
it's injected directly into a vein.
• Research has shown IVIG can reduce fever and
the risk of heart problems.
• Dose 2gm/kg over single IV infusion and should be
given in the first 10 days from diagnosis should also
be given to children diagnosed after 10 days if there
is evidence of ongoing fever and/or inflammation
• After your child is given IVIG, their symptoms
should improve within 36 hours.
• If their high temperature doesn't improve after 36
hours, they may be given a second dose of IVIG.
Corticosteroids

• Corticosteroids are a type of medicine that

contain hormones, which are powerful chemicals
that have a wide range of effects on the body.
• They may be recommended if IVIG hasn't been
effective (second line) , or if your child is found
to have a high risk of heart problems.
• Consider use in high-risk groups as initial therapy by
pulse 30mg/kg once or for 3 days which include
⮚ Demographics: age <12 months of age, Asian ethnicity
⮚ Investigation abnormalities: ALT >100 IU/L, albumin
≤2.5mg g/L, sodium ≤133 mmol/L, platelets ≤30 x
109/L (MAS) , CRP >100 mg/L, anaemia for age
⮚ Cardiac or coronary artery involvement on echo at
presentation