Suspected Multi-System Rheumatic Disease
When to suspect multi-system rheumatic diseases in children?
- Prolonged or intermittent fever in the absence of infection or malignancy. The fever pattern can sometimes be a clue e.g., A quotidian pattern in systemic JIA.
- Presence of rash with joint pains. Rash can be varied in the many conditions and special care to seek out the rash especially at hairline, behind the ears, umbilicus (for psoriasis), evanescent rash (especially on inner thighs and trunk) in systemic JIA.
- Persistently elevated inflammatory markers especially ESR. Note that elevations in ESR / CRP are non-specific and does not diagnose an autoimmune condition. A high ESR with a normal C-reactive protein supports diagnosis of JSLE.
- Presence of autoantibodies e.g., ANA especially when present in high titres. Caution that ANA can also be present in healthy children and also other conditions like infection and malignancy. Interpretation of ANA in addition requires careful considering of clinical context.
Diagnostic approach.
A detailed history and meticulous examination seeking out involvement of all organs should be performed. Further investigations can be performed depending on the suspected diagnosis.
Many rheumatic diseases in children affect multiple organs as they often involve the joints, muscles and connective tissues. These can be inflammatory or non-inflammatory in nature. Recent advances have shown that whilst the majority of these inflammatory diseases are autoimmune in origin which involve mainly the adaptive immune system (e.g., Systemic vasculitis, Juvenile SLE, Juvenile Dermatomyositis), there are also many rarer autoinflammatory diseases involving the innate immune system e.g., Familial Mediterranean Fever (FMF). Although most rheumatic diseases affect multiple organs, they can sometimes present with symptoms predominantly affecting a single organ system e.g., the kidneys, gastrointestinal tract, lungs and eyes. A child with SLE may present with just nephrotic syndrome or a child with JIA may present with uveitis as the initial presentation. Pulmonary haemorrhage may be the first sign of an ANCA vasculitis.
Acute Rheumatic Fever is common in many parts of the world and will be in the differential diagnosis.
|
System |
Symptom |
Sign |
Investigation |
|
General |
Fever, loss of appetite, loss of weight, fatigue |
High temperature, thin/cachexic, loss of muscle bulk or fat, lethargic |
FBC, ESR, CRP Renal profile Liver function ANA, C3/C4 |
|
Rash, hair loss, mouth ulcers |
Various rashes alopecia (scarring or non-scarring) ulcers (mouth/palate/nasal) |
Skin biopsy including immunofluorescence |
|
|
Heart and blood vessels |
Chest pain, palpitations, shortness of breath, decrease effort tolerance |
Cardiomegaly, murmurs, gallop rhythm, pericardial rub, irregular pulse, absent/reduced pulses, bruits |
ECG, ECHO US Doppler medium/large vessels Arteriogram (CTAngio or MRAngio) |
|
Lungs |
Cough, haemoptysis, shortness of breath, reduced effort tolerance, noisy breathing e.g., stridor, wheezing, Hoarse or soft voice |
Pallor, clubbing, tachypnoea, increased work of breathing (e.g., recessions) stridor/ wheezing, lung crepitations, low saturation or cyanosis |
CXR HRCT (for lung disease) CT thorax CT PA (if suspect pulmonary embolism) ANCA (if suspect vasculitis) |
|
Gastrointestinal |
Abdominal pain, nausea, vomiting, diarrhoea, bloody stools, rectal bleeding |
Abdominal distension, tenderness, masses, ascites, pancreatitis, hepatomegaly, splenomegaly, bowel perforation, perianal skin tags |
Abdomen XR US abdomen Stool occult blood CT abdomen Endoscopy Colonoscopy |
|
Kidneys |
Swelling of eyes, face or feet, reduced urine output, frothy urine, blood in urine |
Periorbital / facial or ankle oedema, hypertension, Ascites, sacral oedema, anasarca |
Anti-ds DNA Ab Anti GBM Ab Renal function 24 hour urine protein Renal biopsy |
|
Joint pain, early morning stiffness, gelling, joint swelling, loss of/ impaired function, limping, regression of milestones |
Joint swelling, tenderness, restriction of joint movement |
Xray Ultrasound MRI or CT scan |
|
|
Muscle pain / aches, weakness of limbs, Difficulty to get up from floor or climb stairs |
Muscle tenderness Muscle swelling Muscle weakness (note distribution and involvement – proximal, distal, neck and abdomen) |
Muscle enzymes Ultrasound MRI Muscle biopsy EMG |
|
|
Brain |
Headache, giddiness, seizures, stroke, deteriorating school performance, drowsy, delirium Abnormal bizarre posturing and movement (chorea) Psychiatric features |
Impaired conscious level, focal neurological signs, hypertonia/ hyperreflexia |
CT scan MRI |
|
Nerves |
Numbness or tingling of extremities, weakness of limbs, facial asymmetry, squint, |
Signs of peripheral neuropathy or mononeuritis multiplex, cranial nerve palsies |
Nerve conduction tests MRI spinal cord |
|
Eyes |
Blurred vision, eye pain, eye redness, eye protrusion |
Conjunctival redness, irregular pupils, paralytic squint, proptosis, optic disc swelling, cotton wool spots, fundal haemorrhages, uveitis |
Slit lamp examination Retinal scans Vision tests CT scan/MRI |
|
Blood |
Conjunctiva pale or yellow, bruises, purpuric rash, symptoms of thrombosis (ischaemic or infarction) |
Pallor, jaundice, purpura, petechiae, bleeding gums hepatosplenomegaly, lymphadenopathy, bleeding tendencies, signs of venous or arterial thrombosis, |
Full blood picture Direct Coombs test Bone Marrow aspirate and trephine Coagulation profile Thrombophilia profile |
|
Thyroid |
Symptoms of hypothyroidism or hyperthyroidism |
Palpable thyroid gland |
Thyroid function test Thyroid autoantibodies |
Some autoantibodies are more specific for rheumatic illness and, in particular, multi-system rheumatic diseases and vasculitis. More information is available.
Resources to demonstrate mucocutaneous features of multisystem diseases are available.
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